Infant Motor Development Is Associated with Adult Cognitive Categorisation in a Longitudinal Birth Cohort Study

ERIC Educational Resources Information Center

Murray, G. K.; Veijola, J.; Moilanen, K.; Miettunen, J.; Glahn, D. C.; Cannon, T. D.; Jones, P. B.; Isohanni, M.

2006-01-01

Background: The relationship between the age of reaching infant developmental milestones and later intellectual function within the normal population remains unresolved. We hypothesised that the age of learning to stand in infancy would be associated with adult executive function and that the association would be apparent throughout the range of…

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

PubMed

Maliepaard, Marianne; Mathijssen, Irene M J; Oosterlaan, Jaap; Okkerse, Jolanda M E

2014-06-01

To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ < 85) compared with the normative population (P < .001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P < .001), Internalizing (P < .01), social problems (P < .001), attention problems (P < .001), and the DBD Inattention (P < .001). Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P < .01), attention problems (P < .05), and inattention problems (P < .01) than normative population and with other diagnostic subgroups. Although children who have syndromic craniosynostosis have FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

Sensory Impairment and Head Circumference in Fragile X Syndrome, Down Syndrome and Idiopathic Intellectual Disability.

ERIC Educational Resources Information Center

Turk, Jeremy; Patton, Michael

2000-01-01

Eighteen boys with fragile X syndrome were compared with 42 with idiopathic intellectual disability, and 45 with Down syndrome. Boys with Down syndrome had more sensory problems and smaller head circumferences than normal. Head circumferences of boys with fragile X syndrome and with idiopathic intellectual disability were larger than normal.…

Relating children's attentional capabilities to intelligence, memory, and academic achievement: a test of construct specificity in children with asthma.

PubMed

Annett, Robert D; Bender, Bruce G; Gordon, Michael

2007-01-01

The relationship between attention, intelligence, memory, achievement, and behavior in a large population (N = 939) of children without neuropsychologic problems was investigated in children with mild and moderate asthma. It was hypothesized that different levels of children's attentional capabilities would be associated with different levels of intellectual, memory, and academic abilities. Children ages 6-12 at the eight clinical centers of the Childhood Asthma Management Program (CAMP) were enrolled in this study. Standardized measures of child neuropsychological and behavioral performance were administered to all participants, with analyses examining both the developmental trajectory of child attentional capabilities and the associations between Continuous Performance Test (CPT) scores and intellectual functioning, and measures of memory, academic achievement, and behavioral functioning. Findings demonstrated that correct responses on the CPT increase significantly with age, while commission errors decrease significantly with age. Performance levels on the CPT were associated with differences in child intellectual function, memory, and academic achievement. Overall these findings reveal how impairments in child attention skills were associated with normal levels of performance on measures of children's intelligence, memory, academic achievement, and behavioral functioning, suggesting that CPT performance is a salient marker of brain function.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

PubMed

Eroglu, Yasemen; Nguyen-Driver, Mina; Steiner, Robert D; Merkens, Louise; Merkens, Mark; Roullet, Jean-Baptiste; Elias, Ellen; Sarphare, Geeta; Porter, Forbes D; Li, Chumei; Tierney, Elaine; Nowaczyk, Małgorzata J; Freeman, Kurt A

2017-08-01

Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing in four centers. All children with at least one IQ composite score above 80 were included in the study. Six girls, three boys with SLOS were found to have normal or low-normal IQ in a cohort of 145 children with SLOS. Major/multiple organ anomalies and low serum cholesterol levels were uncommon. No correlation with IQ and genotype was evident and no specific developmental profile were observed. Thus, normal or low-normal cognitive function is possible in SLOS. Further studies are needed to elucidate factors contributing to normal or low-normal cognitive function in children with SLOS. © 2017 Wiley Periodicals, Inc.

Borderline intellectual functioning: consensus and good practice guidelines.

PubMed

Salvador-Carulla, Luis; García-Gutiérrez, Juan Carlos; Ruiz Gutiérrez-Colosía, Mencía; Artigas-Pallarès, Josep; García Ibáñez, José; González Pérez, Joan; Nadal Pla, Margarida; Aguilera Inés, Francisco; Isus, Sofia; Cereza, Josep Maria; Poole, Miriam; Portero Lazcano, Guillermo; Monzón, Patricio; Leiva, Marta; Parellada, Mara; García Nonell, Katia; Martínez I Hernández, Andreu; Rigau, Eugenia; Martínez-Leal, Rafael

2013-01-01

The Borderline Intellectual Functioning (BIF) is conceptualized as the frontier that delimits "normal" intellectual functioning from intellectual disability (IQ 71-85). In spite of its magnitude, its prevalence cannot be quantified and its diagnosis has not yet been defined. To elaborate a conceptual framework and to establish consensus guidelines. A mixed qualitative methodology, including frame analysis and nominal groups techniques, was used. The literature was extensively reviewed in evidence based medical databases, scientific publications, and the grey literature. This information was studied and a framing document was prepared. Scientific publications covering BIF are scarce. The term that yields a bigger number of results is "Borderline Intelligence". The Working Group detected a number of areas in which consensus was needed and wrote a consensus document covering the conclusions of the experts and the framing document. It is a priority to reach an international consensus about the BIF construct and its operative criteria, as well as to develop specific tools for screening and diagnosis. It is also necessary to define criteria that enable its incidence and prevalence. To know what interventions are the most efficient, and what are the needs of this population, is vital to implement an integral model of care centred on the individual. Copyright © 2011 SEP y SEPB. Published by Elsevier Espana. All rights reserved.

Borderline intellectual functioning and sleep: the role of cyclic alternating pattern.

PubMed

Esposito, Maria; Carotenuto, Marco

2010-11-19

In the clinical literature there are few specific studies about the relationship between cognition processes and sleep during childhood. In addition, milder deficits in general intellectual capacity have received less attention relative to major cognitive dysfunctions (such as the genetic or environmental basis of mental retardation), especially concerning the low normal and borderline status. Sleep could play a key role in multiple intellectual abilities such as memory, executive functions, and school performances. Aim of our study is to assess the sleep macrostructure and NREM instability (cyclic alternating pattern) and their relationship with IQ in a sample of subjects with borderline intellectual functioning (BIF). The DSM-IV defines BIF as a total intelligence quotient (TIQ) ranging between 71 and 84. Intellective functioning was assessed using the Italian version of Wechsler Intelligence Scale for Children-Revised (WISC-R), a well validated test for the developmental age between 6 and 16. For this study, 12 BIF and 17 healthy children, matched for sex and age, underwent an overnight PSG recording. Macrostructural sleep and CAP analysis were also performed. To our knowledge, this study represents the first attempt to evaluate sleep architecture and NREM instability organization in children with BIF. Findings from this investigation evidence that BIF presents alterations in both macro- and microstructural sleep architecture, with an interesting statistical significant correlation with IQ. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Assessing Advanced Theory of Mind in Children and Adolescents with High-Functioning Autism: The Spanish Version of the "Stories of Everyday Life"

ERIC Educational Resources Information Center

Lera-Miguel, Sara; Rosa, Mireia; Puig, Olga; Kaland, Nils; Lázaro, Luisa; Castro-Formieles, Josefina; Calvo, Rosa

2016-01-01

Most individuals with autism spectrum disorders often fail in tasks of theory of mind (ToM). However, those with normal intellectual functioning known as high functioning ASD (HF-ASD) sometimes succeed in mentalizing inferences. Some tools have been developed to more accurately test their ToM abilities. The aims of this study were to examine the…

Effects of transient neonatal hyperthyrotropinemia on intellectual quotient and psychomotor performance.

PubMed

Azizi, F; Afkhami, M; Sarshar, A; Nafarabadi, M

2001-01-01

Transient neonatal hyperthyrotropinemia (TNH) occurs frequently in areas of iodine deficiency. To evaluate the effect of TNH in intellectual function and psychomotor performance, a historical cohohrt study was performed in 9 years old children with documented TNH at birth. 18 children with TNH who had been born in Mahdieh Hospital were studied at age 9 and compared to 19 matcheal children born at the same time, but having normal thyroid function at birth. Global intelligence (IQ) and psychomotor performance were evaluated with Raven and Bender-Gestalt tests, respectively. Total serum T4 and T3 by commercial RIA and TSH by IRMA. Urine was tested for iodine content by digestion method. Height and weight were similar in two groups at birth and at 9 years of age. Thyroid function tests were similar in the two groups except for TSH at birth which was higher in TNH than in control group (23.4 +/- 8.3 vs 3.6 +/- 1.0 mU/L, P < 0.001). Results of T4, T3, resine uptake, and urinary iodine at 9 years of age were not different between two groups. Mean IQ was 98 +/- 11 and 106 +/- 8 in TNH and normal children, respectively (P < 0.01). There was no significant difference between psychomotor performance in the two groups. There was no correlation between TSH at birth and IQ at 9 years of age. The present finding suggests that TNH can adversely affect longterm intellectual development.

Brain structure characteristics in intellectually superior schizophrenia.

PubMed

Vaskinn, Anja; Hartberg, Cecilie B; Sundet, Kjetil; Westlye, Lars T; Andreassen, Ole A; Melle, Ingrid; Agartz, Ingrid

2015-04-30

The current study aims to fill a gap in the knowledge base by investigating the structural brain characteristics of individuals with schizophrenia and superior intellectual abilities. Subcortical volumes, cortical thickness and cortical surface area were examined in intellectually normal and intellectually superior participants with schizophrenia and their IQ-matched healthy controls, as well as in intellectually low schizophrenia participants. We replicated significant diagnostic group effects on hippocampal and ventricular size after correction for multiple comparisons. There were no statistically significant effects of intellectual level or of the interaction between diagnostic group and intellectual level. Effect sizes indicated that differences between schizophrenia and healthy control participants were of similar magnitude at both intellectual levels for all three types of morphological data. A secondary analysis within the schizophrenia group, including participants with low intellectual abilities, yielded numerical, but no statistically significant differences on any structural brain measure. The present findings indicate that the brain structure abnormalities in schizophrenia are present at all intellectual levels, and individuals with schizophrenia and superior intellectual abilities have brain structure abnormalities of the same magnitude as individuals with schizophrenia and normal intellectual abilities. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals.

PubMed

Niklasson, Lena; Gillberg, Christopher

2010-01-01

The primary objective of this study was to study the impact of ASD/ADHD on general intellectual ability and profile, executive functions and visuo-motor skills in children and adults with 22q11 deletion syndrome (22q11DS). A secondary aim was to study if gender, age, heart disease, ASD, ADHD or ASD in combination with ADHD had an impact on general intellectual ability and profile. One hundred consecutively referred individuals aged 1-35 years with 22q11DS were given in-depth neuropsychological assessments. Mean full scale IQ was 71 with a normal distribution around this mean. Higher IQ for females than males, and a negative trend for IQ with higher age were found. Intellectual impairment, as well as visuo-motor dysfunction, was found to be related to 22q11DS per se and not to ASD/ADHD. In the area of executive function, the presence of ASD/ADHD predicted poor planning ability in the children in the study.

Disproportionately severe memory deficit in relation to normal intellectual functioning after closed head injury.

PubMed Central

Levin, H S; Goldstein, F C; High, W M; Eisenberg, H M

1988-01-01

The presence of disproportionate memory impairment with relatively preserved intellectual functioning was examined in 87 survivors of moderate or severe closed head injury. Approximately one-fourth of the patients tested at 5 to 15 and/or 16 to 42 months after injury manifested defective memory on both auditory and pictorial measures despite obtaining Wechsler Verbal and Performance Intelligence Quotients within the average range. The findings indicate that disproportionately severe memory deficit persists in a subgroup of closed head injured survivors which is reminiscent in some cases of the amnesic disturbance arising from other causes. Evaluation of long term memory in relation to cognitive ability could potentially identify important distinctions for prognosis and rehabilitation in head injured patients. PMID:3225586

Assessing Advanced Theory of Mind in Children and Adolescents with High-Functioning Autism: The Spanish Version of the Stories of Everyday Life.

PubMed

Lera-Miguel, Sara; Rosa, Mireia; Puig, Olga; Kaland, Nils; Lázaro, Luisa; Castro-Formieles, Josefina; Calvo, Rosa

2016-01-01

Most individuals with autism spectrum disorders often fail in tasks of theory of mind (ToM). However, those with normal intellectual functioning known as high functioning ASD (HF-ASD) sometimes succeed in mentalizing inferences. Some tools have been developed to more accurately test their ToM abilities. The aims of this study were to examine the psychometric properties of the Spanish version of Stories of Everyday Life Test (SEL) in a sample of 29 children and adolescents with HF-ASD and 25 typically developing controls and to compare their performance. The Spanish-SEL demonstrated good internal consistency, strong convergence with clinical severity and another ToM test, and adequate discriminant validity from intellectual capability and age, identifying the condition of 70 % of participants.

Memory in ASD: Have We Been Barking up the Wrong Tree?

ERIC Educational Resources Information Center

Boucher, Jill; Mayes, Andrew

2012-01-01

In this theoretical note, possible neural causes of episodic memory impairment in individuals with ASD and currently normal intellectual and linguistic function are considered. The neural causes most commonly argued for are hippocampal or prefrontal cortex dysfunction, associated with impaired neural connectivity. It is argued here that a…

Behavioral Treatment and Normal Educational and Intellectual Functioning in Young Autistic Children.

ERIC Educational Resources Information Center

Lovaas, O. Ivar

1987-01-01

Reports the results of behavior modification treatment for two groups of similarly constituted, young autistic children. Pretreatment measures revealed no significant differences between the intensively treated experimental group and the minimally treated control groups. At follow-up, experimental group subjects (N=19) did significantly better…

Can cerebral MRI at age 1 year predict motor and intellectual outcomes in very-low-birthweight children?

PubMed

Skranes, J; Vik, T; Nilsen, G; Smevik, O; Andersson, H W; Brubakk, A M

1998-04-01

This follow-up study reports on cerebral MRI findings in 20 very-low-birthweight (VLBW) infants without disabilities at age 1 year in relation to motor, intellectual, and perceptual function at age 6 years. MRI findings, anthropometrics, and Bayley Scales of Infant Development scores at age 1 year as predictors of psychomotor status at age 6 years are also evaluated and compared. Outcome parameters were the Peabody Developmental Motor Scales and the Wechsler Preschool and Primary Scale of Intelligence. The results show that infants with myelin hyperintensities including the centrum semiovale or with occipital hyperintensities with associated ventricular dilatation at age 1 scored lower on the Peabody Gross Motor Locomotion Scale at age 6 than infants with normal myelination or with isolated occipital hyperintensities. This may indicate damage to motor fibers caused by perinatal periventricular leukomalacia. No relation was found between abnormal MRI findings at age 1 and later fine motor, intellectual, and perceptual function. Comparing different age 1-year predictors, an abnormality score defined by MRI was used as an independent predictor of gross motor locomotion function at age 6 years. However, the Bayley Mental Development Index scores and weight at age 1 were more important predictors of later motor and intellectual outcome, respectively, than MRI findings. It is recommended that cerebral MRI should not be used routinely to examine VLBW infants without disabilities at 1 year of age.

[The profile of WISC-R scores in children with high-functioning autism].

PubMed

Zielinska, Monika; Sterczynski, Radoslaw; Baginska, Aneta

2014-01-01

The aim of the study was to define the intellectual profile of Polish children suffering from autism. Our study was based on the results of previous research, mostly conducted in English-speaking countries. Although these earlier studies documented the intellectual profile of an autistic child, they also identified some discrepancies. Therefore, we decided to complement the discussion on autism with our data on intellectual functioning of autistic Polish children examined with a translated version of the intelligence test. The study followed a matching design. From among 191 children with autism and 1 400 without this diagnosis, we selected 34 pairs based on gender and age, and not differing by more than 10 points in terms of intelligence quotient. The intellectual profile of the studied children was determined with the WISC-R scale. As expected, the intellectual profile of children with autism proved more variable than that of healthy controls. Children with autism scored lower on "Comprehension" scale and (at a threshold of statistical significance) on "Object assembly" scale, and achieved higher results on "Information" and "Block design" scales. The results of our study confirmed the most typical observations from previous research conducted among an English-speaking population of autistic children. Polish autistic children did not differ significantly in terms of their quotients of verbal and non-verbal intelligence. However, the intellectual profile of autistic children showed higher variance compared to normally developing controls. Children with autism were more likely to score the lowest in the "Comprehension" subtest and the highest in the "Block design" subtest.

Teacher Burnout: Is It Real? Can We Prevent It?

ERIC Educational Resources Information Center

Terry, Paul M.

Excessive, prolonged stress can alter the body's normal physiologic function. If adequate coping mechanisms are not instituted, this extreme state can lead to burnout. Burnout can be experienced with physical, intellectual, social, psycho-emotional, and spiritual adaptations. It has been estimated that up to 40 percent of U.S. teachers will not be…

Relationships between gross- and fine motor functions, cognitive abilities, and self-regulatory aspects of students with physical disabilities.

PubMed

Varsamis, Panagiotis; Agaliotis, Ioannis

2015-12-01

This article reports research on self-regulatory aspects (i.e., goal-setting, self-efficacy and self-evaluation) of secondary and post-secondary students with congenital motor disabilities, who performed a ball-throwing-at-a-target task. Participants were divided into four subgroups presenting distinct combinations of motor and cognitive abilities (i.e., normal cognitive development and mild physical disabilities, normal cognitive development and severe physical disabilities, mild-to-moderate intellectual disability and mild physical disabilities, and mild-to-moderate intellectual disability and severe physical disabilities). Results showed that students presenting mild motor disabilities exhibited a positive self-concept and self-regulation profile, irrespective of their cognitive functioning. Students with considerable motor disabilities, but without cognitive challenges, presented a negative, though realistic self-concept and self-regulation profile. Finally, students with considerable motor disabilities and mild-to-moderate cognitive disabilities showed a positive, though unrealistic, self-regulation profile. The nature of the diverse relationship of motor and cognitive (dis)abilities to specific self-regulatory aspects are discussed, and important instructional implications are mentioned. Copyright © 2015 Elsevier Ltd. All rights reserved.

Meeting the support needs of persons with mild intellectual disability or borderline intellectual functioning: still a long way to go.

PubMed

Nouwens, P J G; Smulders, N B M; Embregts, P J C M; van Nieuwenhuizen, C

2017-12-01

Among persons with a mild intellectual disability or borderline intellectual functioning, differences in their characteristics imply that a differentiated approach is required to meet their needs. This retrospective study examined whether the history of support/treatment programs and the type of healthcare providers involved matched the specific support needs of persons with a mild intellectual disability or borderline intellectual functioning. Five (previously identified) profiles of persons with a mild intellectual disability or borderline intellectual functioning were used to investigate to what extent the support needs of this group had been met. For the 250 persons with mild intellectual disability or borderline intellectual functioning who matched these five profiles, data were collected retrospectively from their case files. Persons with mild intellectual disability or borderline intellectual functioning received a very similar amount and type of support/treatment programs. Differences between the profiles were found for non-verbal therapy, residential treatment and contacts with social work. Regarding the type of healthcare providers involved, differences between the profiles emerged for specialised intellectual disability services, youth services and specialised addiction services. The support programs for a heterogeneous population of persons with mild intellectual disability or borderline intellectual functioning seem to be suboptimal, indicating that more differentiation is required in the services offered to these individuals. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Identifying classes of persons with mild intellectual disability or borderline intellectual functioning: a latent class analysis.

PubMed

Nouwens, Peter J G; Lucas, Rosanne; Smulders, Nienke B M; Embregts, Petri J C M; van Nieuwenhuizen, Chijs

2017-07-17

Persons with mild intellectual disability or borderline intellectual functioning are often studied as a single group with similar characteristics. However, there are indications that differences exist within this population. Therefore, the aim of this study was to identify classes of persons with mild intellectual disability or borderline intellectual functioning and to examine whether these classes are related to individual and/or environmental characteristics. Latent class analysis was performed using file data of 250 eligible participants with a mean age of 26.1 (SD 13.8, range 3-70) years. Five distinct classes of persons with mild intellectual disability or borderline intellectual functioning were found. These classes significantly differed in individual and environmental characteristics. For example, persons with a mild intellectual disability experienced fewer problems than those with borderline intellectual disability. The identification of five classes implies that a differentiated approach is required towards persons with mild intellectual disability or borderline intellectual functioning.

Evaluation of intellectual development of children following congenital, mildly symptomatic cytomegalovirus (CMV) infection. A prospective study.

PubMed

Milewska-Bobula, Bogumniła; Zebrowska, Joanna; Olszaniecka, Marzena; Pijanowska, Stefania; Radziszewska-Konopka, Marzanna; Lipka, Bozena

2010-01-01

Assessment of intellectual development of 6-year-old children following asymptomatic or mildly symptomatic congenital cytomegalovirus infection in infancy. A longitudinal, prospective cohort study concerning 38 (2%) children with congenital cytomegalovirus infection confirmed by specific serological and molecular tests, selected from the group of 1895 neonates preliminarily enrolled into the study. The first specialistic clinical assessment was performed during the neonatal and early infancy period, the second at the age of 12-18 months, and the final comprehensive clinical evaluation was carried out at the age of 6-6.5 years. Psychological evaluation showed normal mental development (Intelligence Quotient ranged from 88 to 114), but 12 (32%) children showed abnormalities in speech development and in 3 (8%) poor visual-motor integration was observed. Emotional and social functioning indicate a normal level of maturity, but 14 (37%) children exhibited increased emotional sensitivity. Psychological assessment indicate that 6 (16%) children may have problems with school maturity. Long-term follow-up of children with congenital cytomegalovirus infection is necessary, including those with a mild clinical course, in view of the possible late sequelae, especially concerning intellectual development and hearing impairment.

Special education for intellectual disability: current trends and perspectives.

PubMed

Kauffman, James M; Hung, Li-Yu

2009-09-01

To inform readers of current issues in special education for individuals with intellectual disabilities and summarize recent research and opinion. Two issues dominate special education for students with intellectual disabilities in the early 21st century. First, what should be taught to such students and who should teach them? Second, where should such students be taught - in 'inclusive' settings alongside normal peers or in special settings dedicated to their special needs? Research on teaching reading, arithmetic, and functional daily living skills to students with disabilities suggests the superiority of direct, systematic instruction. Universal design is often seen as supportive of inclusion. Inclusion has been seen as the central issue in special education but is gradually giving way to concern for what students learn. Direct, systematic instruction in reading, arithmetic, and daily living skills is the most effective approach to teaching students with intellectual disabilities. Basic concepts and logic suggest that special and general education cannot be equivalent. We conclude that what students are taught should be put ahead of where they are taught. Our fundamental concern is that students with intellectual disabilities be respected and be taught all they can learn.

The Relation Between Intellectual Functioning and Adaptive Behavior in the Diagnosis of Intellectual Disability.

PubMed

Tassé, Marc J; Luckasson, Ruth; Schalock, Robert L

2016-12-01

Intellectual disability originates during the developmental period and is characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. In this article, we present a brief history of the diagnostic criteria of intellectual disability for both the DSM-5 and AAIDD. The article also (a) provides an update of the understanding of adaptive behavior, (b) dispels two thinking errors regarding mistaken temporal or causal link between intellectual functioning and adaptive behavior, (c) explains that there is a strong correlational, but no causative, relation between intellectual functioning and adaptive behavior, and (d) asserts that once a question of determining intellectual disability is raised, both intellectual functioning and adaptive behavior are assessed and considered jointly and weighed equally in the diagnosis of intellectual disability. We discuss the problems created by an inaccurate statement that appears in the DSM-5 regarding a causal link between deficits in intellectual functioning and adaptive behavior and propose an immediate revision to remove this erroneous and confounding statement.

Fluid and flexible minds: Intelligence reflects synchrony in the brain’s intrinsic network architecture

PubMed Central

Ferguson, Michael A.; Anderson, Jeffrey S.; Spreng, R. Nathan

2017-01-01

Human intelligence has been conceptualized as a complex system of dissociable cognitive processes, yet studies investigating the neural basis of intelligence have typically emphasized the contributions of discrete brain regions or, more recently, of specific networks of functionally connected regions. Here we take a broader, systems perspective in order to investigate whether intelligence is an emergent property of synchrony within the brain’s intrinsic network architecture. Using a large sample of resting-state fMRI and cognitive data (n = 830), we report that the synchrony of functional interactions within and across distributed brain networks reliably predicts fluid and flexible intellectual functioning. By adopting a whole-brain, systems-level approach, we were able to reliably predict individual differences in human intelligence by characterizing features of the brain’s intrinsic network architecture. These findings hold promise for the eventual development of neural markers to predict changes in intellectual function that are associated with neurodevelopment, normal aging, and brain disease.

Reduced Interhemispheric Connectivity in Childhood Autism Detected by Electroencephalographic Photic Driving Coherence

ERIC Educational Resources Information Center

Lazarev, Vladimir V.; Pontes, Adailton; Mitrofanov, Andrey A.; deAzevedo, Leonardo C.

2015-01-01

The EEG coherence among 14 scalp points during intermittent photic stimulation at 11 fixed frequencies of 3-24 Hz was studied in 14 boys with autism, aged 6-14 years, with relatively intact verbal and intellectual functions, and 19 normally developing boys. The number of interhemispheric coherent connections pertaining to the 20 highest…

Self-Regulation during Pretend Play in Children with Intellectual Disability and in Normally Developing Children

ERIC Educational Resources Information Center

Vieillevoye, Sandrine; Nader-Grosbois, Nathalie

2008-01-01

This study investigated the symbolic behavior and the self-regulation in dyads of children with intellectual disability and of normally developing children. Specifically, these processes were studied in link with the children's characteristics (mental age, linguistic level, individual pretend play level). The sample included 80 participants, 40…

Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring.

PubMed

Albert, Benjamin B; Heather, Natasha; Derraik, José G B; Cutfield, Wayne S; Wouldes, Trecia; Tregurtha, Sheryl; Mathai, Sarah; Webster, Dianne; Jefferies, Craig; Gunn, Alistair J; Hofman, Paul L

2013-09-01

Despite newborn screening and early levothyroxine replacement, there are continued reports of mild neurocognitive impairment in children with congenital hypothyroidism (CHT). In Auckland, New Zealand, cases are identified by a neonatal screening program with rapid institution of high-dose levothyroxine replacement (10-15 μg/kg·d), producing prompt normalization of thyroid function. Subsequently, frequent monitoring and dose alterations are performed for 2 years. We aimed to assess whether the Auckland treatment strategy prevents impairment of intellectual and motor development. This study encompassed all children with CHT born in 1993-2006 in Auckland and their siblings. Neurocognitive assessments included the following: 1) intelligence quotient via Weschler Preschool and Primary Scale of Intelligence III or Weschler Intelligence Scale for Children IV; 2) Movement Assessment Battery for Children; and 3) Beery Developmental Test of Visual-Motor Integration. Body composition was assessed by dual-energy x-ray absorptiometry. Forty-four CHT cases and 53 sibling controls aged 9.6 ± 3.9 years were studied. Overall intelligence quotient was similar among CHT cases and controls (95.2 vs 98.6; P = .20), and there were also no differences in motor function. Severity of CHT did not influence outcome, but greater time to normalize free T4 was associated with worse motor balance. There were no differences in anthropometry or body composition between groups. These findings suggest that a strategy of rapidly identifying and treating infants with CHT using high-dose levothyroxine replacement is associated with normal intellectual and motor development. The subtle negative impact on motor function associated with time to normalize free T4 levels is consistent with benefit from rapid initial correction.

Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

PubMed Central

Pratte-Santos, Rodrigo; Ribeiro, Katyanne Heringer; Santos, Thainá Altoe; Cintra, Terezinha Sarquis

2016-01-01

ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment. PMID:27074231

Physiological Correlates of Intellectual Function in Children with Sickle Cell Disease: Hypoxaemia, Hyperaemia and Brain Infarction

ERIC Educational Resources Information Center

Hogan, Alexandra M.; Pit-ten Cate, Ineke M.; Vargha-Khadem, Faraneh; Prengler, Mara; Kirkham, Fenella J.

2006-01-01

Lowered intelligence relative to controls is evident by mid-childhood in children with sickle cell disease. There is consensus that brain infarct contributes to this deficit, but the subtle lowering of IQ in children with normal MRI scans might be accounted for by chronic systemic complications leading to insufficient oxygen delivery to the brain.…

Non-Discriminatory Intellectual Assessment Procedures.

ERIC Educational Resources Information Center

Greenleaf, Wayne; Smith, Henry L.

The paper discusses test bias; presents the rationale of the System of Multicultural Pluralistic Assessment (SOMPA), a test instrument which assumes equal cultural and racial intellectual potential but asserts that there is not one normal curve of measured intellectual performance; and suggests that the test would correct racial and cultural test…

Intelligence, Functioning, and Related Factors in Children with Cerebral Palsy.

PubMed

Türkoğlu, Gözde; Türkoğlu, Serhat; Çelik, Canan; Uçan, Halil

2017-03-01

Cerebral palsy (CP) is the most common significant motor impairment in childhood. CP is defined as a primary disorder of posture and movement; however, intellectual impairment is prevalent in children with CP. The purpose of this study was to examine the intelligence level associated with gross motor function and hand function, type of CP, the presence of comorbid disorders such as epilepsy, and other factors. In total, 107 children with CP were included. Age, gender, prenatal/natal/postnatal risk factors, type of CP, and presence of other neurodevelopmental disorders were recorded as demographic findings. Intellectual functions of the patients were determined by clinical assessment, adaptive function of daily life, and individualized, standardized intelligence testing. The gross motor function and hand function of the patients were classified using the "Gross Motor Function Classification System" and "Bimanual Fine Motor Function" measurements, respectively. The mean age of the patients was 8.10±3.43 years (2-16 years). The study included 63 (58.9%) male patients and 44 (41.1%) female patients. During clinical typing, 80.4% of the patients were spastic, 11.2% were mixed, 4.7% were dyskinetic, and 3.7% were ataxic. Intellectual functioning tests found 26.2% of the children within the intellectual norm and that 10% of the children had a borderline intellectual disability, 16% of them had a mild intellectual disability, 17% of them had a moderate intellectual disability, and 30.8% of them had a severe intellectual disability. No significant relationship was determined between the CP type and intellectual functioning (p>0.05). Intellectual functioning was found to be significantly correlated with hand functions and motor levels (p<0.001). Factors related with intellectual functioning were neonatal convulsion, epilepsy, and speech disorders. Intelligence assessment should be an essential part of CP evaluation and research. There is not enough reliable knowledge, unanimity regarding validity data, and population-specific norms in the intelligence assessments of children with CP. Research is required to assess properly intelligence for children with CP.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

PubMed

Jean-Marçais, Nolwenn; Decamp, Matthieu; Gérard, Marion; Ribault, Virginie; Andrieux, Joris; Kottler, Marie-Laure; Plessis, Ghislaine

2015-01-01

Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO-like phenotype with normal stimulatory G (Gs) function. HDAC4 is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, HDAC4 and TWIST2. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. © 2014 Wiley Periodicals, Inc.

The Relation between Intellectual Functioning and Adaptive Behavior in the Diagnosis of Intellectual Disability

ERIC Educational Resources Information Center

Tassé, Marc J.; Luckasson, Ruth; Schalock, Robert L.

2016-01-01

Intellectual disability originates during the developmental period and is characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. In this article, we present a brief history of the diagnostic criteria of intellectual disability for both…

Age and Adaptive Functioning in Children and Adolescents with ASD: The Effects of Intellectual Functioning and ASD Symptom Severity.

PubMed

Hill, Trenesha L; Gray, Sarah A O; Kamps, Jodi L; Enrique Varela, R

2015-12-01

The present study examined the moderating effects of intellectual functioning and ASD symptom severity on the relation between age and adaptive functioning in 220 youth with autism spectrum disorder (ASD). Regression analysis indicated that intellectual functioning and ASD symptom severity moderated the relation between age and adaptive functioning. For younger children with lower intellectual functioning, higher ASD symptom severity was associated with better adaptive functioning than that of those with lower ASD symptom severity. Similarly, for older children with higher intellectual functioning, higher ASD symptom severity was associated with better adaptive functioning than that of those with lower ASD symptom severity. Analyses by subscales suggest that this pattern is driven by the Conceptual subscale. Clinical and research implications are discussed.

Age and Adaptive Functioning in Children and Adolescents with ASD: The Effects of Intellectual Functioning and ASD Symptom Severity

PubMed Central

Hill, Trenesha L.; Gray, Sarah A. O.; Kamps, Jodi L.; Varela, R. Enrique

2016-01-01

The present study examined the moderating effects of intellectual functioning and ASD symptom severity on the relation between age and adaptive functioning in 220 youth with autism spectrum disorder (ASD). Regression analysis indicated that intellectual functioning and ASD symptom severity moderated the relation between age and adaptive functioning. For younger children with lower intellectual functioning, higher ASD symptom severity was associated with better adaptive functioning than that of those with lower ASD symptom severity. Similarly, for older children with higher intellectual functioning, higher ASD symptom severity was associated with better adaptive functioning than that of those with lower ASD symptom severity. Analyses by subscales suggest that this pattern is driven by the Conceptual subscale. Clinical and research implications are discussed. PMID:26174048

Accurate Memory for Object Location by Individuals with Intellectual Disability: Absolute Spatial Tagging Instead of Configural Processing?

ERIC Educational Resources Information Center

Giuliani, Fabienne; Favrod, Jerome; Grasset, Francois; Schenk, Francoise

2011-01-01

Using head-mounted eye tracker material, we assessed spatial recognition abilities (e.g., reaction to object permutation, removal or replacement with a new object) in participants with intellectual disabilities. The "Intellectual Disabilities (ID)" group (n = 40) obtained a score totalling a 93.7% success rate, whereas the "Normal Control" group…

Mainstream Students' Attitudes to Possible Inclusion in Unified Sports with Students Who Have an Intellectual Disability

ERIC Educational Resources Information Center

Townsend, Michael; Hassall, John

2007-01-01

Background: Schools in New Zealand do not normally include students with intellectual disability in their sports programmes. This study examined regular students' attitudes towards the possible inclusion of students with an intellectual disability in an integrated sports programme within their school. Materials and Methods: A total of 170 school…

Intelligence, Functioning, and Related Factors in Children with Cerebral Palsy

PubMed Central

TÜRKOĞLU, Gözde; TÜRKOĞLU, Serhat; ÇELİK, Canan; UÇAN, Halil

2017-01-01

Introduction Cerebral palsy (CP) is the most common significant motor impairment in childhood. CP is defined as a primary disorder of posture and movement; however, intellectual impairment is prevalent in children with CP. The purpose of this study was to examine the intelligence level associated with gross motor function and hand function, type of CP, the presence of comorbid disorders such as epilepsy, and other factors. Methods In total, 107 children with CP were included. Age, gender, prenatal/natal/postnatal risk factors, type of CP, and presence of other neurodevelopmental disorders were recorded as demographic findings. Intellectual functions of the patients were determined by clinical assessment, adaptive function of daily life, and individualized, standardized intelligence testing. The gross motor function and hand function of the patients were classified using the “Gross Motor Function Classification System” and “Bimanual Fine Motor Function” measurements, respectively. Results The mean age of the patients was 8.10±3.43 years (2–16 years). The study included 63 (58.9%) male patients and 44 (41.1%) female patients. During clinical typing, 80.4% of the patients were spastic, 11.2% were mixed, 4.7% were dyskinetic, and 3.7% were ataxic. Intellectual functioning tests found 26.2% of the children within the intellectual norm and that 10% of the children had a borderline intellectual disability, 16% of them had a mild intellectual disability, 17% of them had a moderate intellectual disability, and 30.8% of them had a severe intellectual disability. No significant relationship was determined between the CP type and intellectual functioning (p>0.05). Intellectual functioning was found to be significantly correlated with hand functions and motor levels (p<0.001). Factors related with intellectual functioning were neonatal convulsion, epilepsy, and speech disorders. Conclusion Intelligence assessment should be an essential part of CP evaluation and research. There is not enough reliable knowledge, unanimity regarding validity data, and population-specific norms in the intelligence assessments of children with CP. Research is required to assess properly intelligence for children with CP. PMID:28566956

Outlook for Children with Intellectual Disabilities

MedlinePlus

... intellectually disabled (formerly called mentally retarded). Their general intelligence is significantly below average, and they have difficulty ... As measured by standardized tests, the average IQ (intelligence quotient) is 100; normal ranges from 90 to ...

Cognitive performance in multiple sclerosis: the contribution of intellectual enrichment and brain MRI measures.

PubMed

Santangelo, Gabriella; Bisecco, Alvino; Trojano, Luigi; Sacco, Rosaria; Siciliano, Mattia; d'Ambrosio, Alessandro; Della Corte, Marida; Lavorgna, Luigi; Bonavita, Simona; Tedeschi, Gioacchino; Gallo, Antonio

2018-05-26

Cognitive reserve (CR) is a construct that originates from the observation of poor correspondence between brain damage and clinical symptoms. The aim of the study was to investigate the association between cognitive reserve (CR), brain reserve (BR) and cognitive functions and to evaluate whether CR might attenuate/moderate the negative impact of brain atrophy and lesion load on cognitive functions in multiple sclerosis (MS). To achieve these aims, ninety-eight relapsing-remitting MS patients underwent the brief repeatable battery of neuropsychological tests and Stroop test (ST). CR was assessed by vocabulary-based estimate of lifetime intellectual enrichment. All patients underwent a 3T MRI to assess T2-lesion load and atrophy measures, including normalized gray matter and white matter (nWMV) volumes. The BR was evaluated by maximal lifetime brain volume expressed by intracranial volume (ICV). Hierarchical regressions were used to investigate whether higher BR and/or CR is related to better cognitive performances after controlling for potentially confounding factors. The ICV was not associated with any cognitive tests. Intellectual enrichment was positively associated with performance on tests assessing memory, attention and information processing speed, verbal fluency and inhibitory control. Significant relationship between nWMV and ST was moderated by intellectual enrichment. In conclusion, the findings suggested that CR seems to mitigate cognitive dysfunction in MS patients and can reduce the negative impact of brain atrophy on inhibitory control, relevant for integrity of instrumental activities of daily living.

Intellectual Functioning in Adults with ADHD: A Meta-Analytic Examination of Full Scale IQ Differences between Adults with and without ADHD

ERIC Educational Resources Information Center

Bridgett, David J.; Walker, Michael E.

2006-01-01

Although attention has been given to the intellectual functioning of children with attention-deficit/hyperactivity disorder (ADHD) relative to their non-ADHD peers, few studies have examined intellectual functioning in adults with ADHD. The purpose of the current investigation was to examine differences in intellectual ability between adults with…

Memory and linguistic/executive functions of children with borderline intellectual functioning.

PubMed

Água Dias, Andrea B; Albuquerque, Cristina P; Simões, Mário R

2017-11-08

Children with Borderline Intellectual Functioning (BIF) have received a minimal amount of research attention and have been studied in conjunction with Intellectual and Developmental Disabilities. The present study intends to broaden the knowledge of BIF, by analyzing domains such as verbal memory and visual memory, as well as tasks that rely simultaneously on memory, executive functions, and language. A cross-sectional, comparison study was carried out between a group of 40 children with BIF (mean age = 10.03; 24 male and 16 female), and a control group of 40 normal children of the same age, gender, and socioeconomic level as the BIF group. The WISC-III Full Scale IQs of the BIF group ranged from 71 to 84. The following instruments were used: Word List, Narrative Memory, Rey Complex Figure, Face Memory, Rapid Naming (both RAN and RAS tests), and Verbal Fluency. The results showed deficits in children with BIF in verbal short-term memory, rapid naming, phonemic verbal fluency, and visual short-term memory, specifically in a visual recognition task, when compared with the control group. Long-term verbal memory was impaired only in older children with BIF and long-term visual memory showed no deficit. Verbal short-term memory stands out as a limitation and visual long-term memory as a strength. Correlations between the WISC-III and neuropsychological tests scores were predominantly low. The study expands the neuropsychological characterization of children with BIF and the implications of the deficits and strengths are stressed.

Association between educational attainment and amyloid deposition across the spectrum from normal cognition to dementia: neuroimaging evidence for protection and compensation.

PubMed

Arenaza-Urquijo, Eider M; Bejanin, Alexandre; Gonneaud, Julie; Wirth, Miranka; La Joie, Renaud; Mutlu, Justine; Gaubert, Malo; Landeau, Brigitte; de la Sayette, Vincent; Eustache, Francis; Chételat, Gaël

2017-11-01

The brain mechanisms underlying the effect of intellectual enrichment may evolve along the normal aging Alzheimer's disease (AD) cognitive spectrum and may include both protective and compensatory mechanisms. We assessed the association between early intellectual enrichment (education, years) and average cortical florbetapir standardized uptake value ratio as well as performed voxel-wise analyses in a total of 140 participants, including cognitively normal older adults, mild cognitive impairment (MCI), and AD patients. Higher education was associated with lower cortical florbetapir positron emission tomography (florbetapir-PET) uptake, notably in the frontal lobe in normal older adults, but with higher uptake in frontal, temporal, and parietal regions in MCI after controlling for global cognitive status. No association was found in AD. In MCI, we observed an increased fluorodeoxyglucose positron emission tomography (FDG-PET) uptake with education within the regions of higher florbetapir-PET uptake, suggesting a compensatory increase. Early intellectual enrichment may be associated with protection and compensation for amyloid beta (Aβ) deposition later in life, before the onset of dementia. Previous investigations have been controversial as regard to the effects of intellectual enrichment variables on Aβ deposition; the present findings call for approaches aiming to evaluate mechanisms of resilience across disease stages. Copyright © 2017 Elsevier Inc. All rights reserved.

Intellectual Functioning in Offspring of Parents with Bipolar Disorder: A Review of the Literature

PubMed Central

Klimes-Dougan, Bonnie; Jeong, Jake; Kennedy, Kevin P.; Allen, Timothy A.

2017-01-01

Impaired intellectual functioning is an important risk factor for the emergence of severe mental illness. Unlike many other forms of mental disorder however, the association between bipolar disorder and intellectual deficits is unclear. In this narrative review, we examine the current evidence on intellectual functioning in children and adolescents at risk for developing bipolar disorder. The results are based on 18 independent, peer-reviewed publications from 1980 to 2017 that met criteria for this study. The findings yielded no consistent evidence of lower or higher intellectual quotient (IQ) in offspring of parents diagnosed with bipolar disorder. Some tentative evidence was found for lower performance IQ in offspring of bipolar parents as compared to controls. It is recommended that future research examine variability in intellectual functioning and potential moderators. These findings demonstrate the need to examine how intellectual functioning unfolds across development given the potential role of IQ as a marker of vulnerability or resilience in youth at high risk for affective disorders. PMID:29143763

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

PubMed

Cheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J; de Vries, Bert B A; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K; Boycott, Kym M; Person, Richard; Willaert, Rebecca; Eichler, Evan E; Kooy, R Frank; Yang, Yaping; Wu, Joseph C; Lupski, James R; Arnesen, Thomas; Cooper, Gregory M; Chung, Wendy K; Gecz, Jozef; Stessman, Holly A F; Meng, Linyan; Lyon, Gholson J

2018-05-03

N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15. Clinical features of affected individuals with LGD variants in NAA15 include variable levels of intellectual disability, delayed speech and motor milestones, and autism spectrum disorder. Additionally, mild craniofacial dysmorphology, congenital cardiac anomalies, and seizures are present in some subjects. RNA analysis in cell lines from two individuals showed degradation of the transcripts with LGD variants, probably as a result of nonsense-mediated decay. Functional assays in yeast confirmed a deleterious effect for two of the LGD variants in NAA15. Further supporting a mechanism of haploinsufficiency, individuals with copy-number variant (CNV) deletions involving NAA15 and surrounding genes can present with mild intellectual disability, mild dysmorphic features, motor delays, and decreased growth. We propose that defects in NatA-mediated N-terminal acetylation (NTA) lead to variable levels of neurodevelopmental disorders in humans, supporting the importance of the NatA complex in normal human development. Copyright © 2018 American Society of Human Genetics. All rights reserved.

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

PubMed

Kolarova, Julia; Tangen, Imke; Bens, Susanne; Gillessen-Kaesbach, Gabriele; Gutwein, Jana; Kautza, Monika; Rydzanicz, Malgorzata; Stephani, Ulrich; Siebert, Reiner; Ammerpohl, Ole; Caliebe, Almuth

2015-08-01

Despite recent progress in molecular karyotyping and clinical sequencing the cause of intellectual disability in a considerable subset of individuals affected by this phenotype remains elusive. As intellectual disability is also a feature of various imprinting disorders and some monogenic forms of intellectual disability are caused by epigenetic modifiers we hypothesized that changes in DNA methylation might be associated with or even causative in some cases of intellectual disability. Therefore, we performed a DNA methylation analysis of peripheral blood samples from 82 patients with intellectual disability and additional features using the HumanMethylation450 BeadChip. The findings were compared to that of 19 normal controls. Differentially methylated loci were validated by bisulfite pyrosequencing. On a global level, we failed to detect a robust DNA methylation signature segregating individuals with intellectual disability from controls. Using an individual approach, we identified 157 regions showing individual DNA methylation changes in at least one patient. These correlated to 107 genes including genes linked to conditions associated with intellectual disability, namely COLEC11, SHANK2, GLI2 and KCNQ2, as well as imprinted genes like FAM50B and MEG3. The latter was suggestive of an undiagnosed Temple syndrome which could be confirmed by diagnostic tests. Subsequent in-depth analysis of imprinted loci revealed DNA methylation changes at additional imprinted loci, i.e. PPIEL, IGF2R, MEG8 and MCTS2/HM13, in up to five patients. Our findings indicate that imprinting disorders are rare but probably under-diagnosed in patients with intellectual disability and moreover point to DNA methylation changes as potential alternative means to identify deregulated genes involved in the pathogenesis of intellectual disability. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

PubMed

Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

2014-01-01

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

PubMed Central

Huang, Lingli; Jolly, Lachlan A.; Willis-Owen, Saffron; Gardner, Alison; Kumar, Raman; Douglas, Evelyn; Shoubridge, Cheryl; Wieczorek, Dagmar; Tzschach, Andreas; Cohen, Monika; Hackett, Anna; Field, Michael; Froyen, Guy; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Corbett, Mark A.; Gecz, Jozef

2012-01-01

The discovery of mutations causing human disease has so far been biased toward protein-coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel resequencing of the nonrepetitive genomic linkage interval at Xq28 of family MRX3. We identified in the binding site of transcription factor YY1 a regulatory mutation that leads to overexpression of the chromatin-associated transcriptional regulator HCFC1. When tested on embryonic murine neural stem cells and embryonic hippocampal neurons, HCFC1 overexpression led to a significant increase of the production of astrocytes and a considerable reduction in neurite growth. Two other nonsynonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function. PMID:23000143

Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders.

PubMed

Mouga, Susana; Café, Cátia; Almeida, Joana; Marques, Carla; Duque, Frederico; Oliveira, Guiomar

2016-09-01

The influence of specific autism spectrum disorder (ASD) deficits in Intelligence Quotients (IQ), Indexes and subtests from the Wechsler Intelligence Scale for Children-III was investigated in 445 school-aged children: ASD (N = 224) and other neurodevelopmental disorders (N = 221), matched by Full-Scale IQ and chronological age. ASD have lower scores in the VIQ than PIQ. The core distinctive scores between groups are Processing Speed Index and "Comprehension" and "Coding" subtests with lower results in ASD. ASD group with normal/high IQ showed highest score on "Similarities" subtest whereas the lower IQ group performed better on "Object Assembly". The results replicated our previous work on adaptive behaviour, showing that adaptive functioning is positively correlated with intellectual profile, especially with the Communication domain in ASD.

Intellectual Ability in Young Adulthood as an Antecedent of Physical Functioning in Older Age

PubMed Central

Poranen-Clark, Taina; von Bonsdorff, Mikaela B.; Törmäkangas, Timo; Lahti, Jari; Wasenius, Niko; Räikkönen, Katri; Osmond, Clive; Salonen, Minna K.; Rantanen, Taina; Kajantie, Eero; Eriksson, Johan G.

2016-01-01

Objectives Low cognitive ability is associated with subsequent functional disability. Whether this association extends across adult life has been little studied. The aim of this study was to examine the association between intellectual ability in young adulthood and physical functioning during a 10-year follow-up in older age. Methods 360 persons of the Helsinki Birth Cohort Study (HBCS) male members, born between 1934- 1944 and residing in Finland in 1971, took part in The Finnish Defence Forces Basic Intellectual Ability Test during the first two weeks of their military service training between 1952- 72. Their physical functioning was assessed twice using the Short Form 36 (SF-36) questionnaire at average ages of 61 and 71 years. A longitudinal path model linking Intellectual Ability Test score to the physical functioning assessments was used to explore the effect of intellectual ability in young adulthood on physical functioning in older age. Results After adjustments for age at measurement, childhood socioeconomic status and adult BMI (kg/m2), better intellectual ability total and arithmetic and verbal reasoning subtest scores in young adulthood predicted better physical functioning at age 61 years (P-values < 0.021). Intellectual ability total and arithmetic and verbal reasoning subtest scores in young adulthood had indirect effects on physical functioning at age 71 years (P-values < 0.022) through better physical functioning at age 61 years. Adjustment for main chronic diseases did not change the results materially. Conclusion Better early life intellectual ability helps in maintaining better physical functioning in older age. PMID:27189726

Motor Performance of Children with Mild Intellectual Disability and Borderline Intellectual Functioning

ERIC Educational Resources Information Center

Vuijk, P. J.; Hartman, E.; Scherder, E.; Visscher, C.

2010-01-01

Background: There is a relatively small body of research on the motor performance of children with mild intellectual disabilities (MID) and borderline intellectual functioning (BIF). Adequate levels of motor skills may contribute to lifelong enjoyment of physical activity, participation in sports and healthy lifestyles. The present study compares…

Long-Term Prognosis of Patients with Esophageal Atresia and/or Tracheoesophageal Fistula.

PubMed

Bakal, Unal; Ersoz, Fikret; Eker, Irem; Sarac, Mehmet; Aydin, Mustafa; Kazez, Ahmet

2016-05-01

To investigate long-term prognosis of infants with esophageal atresia (EA) and/or tracheoesophageal fistula (TEF). The data of patients with EA were investigated from their medical files. For the neurodevelopmental evaluation, they were requested to come for a return visit to authors' polyclinic. Intellectual development was assessed by Ankara Developmental Screening Inventory (ADSI) (for 0-6 age) and Wechsler Intelligence Scale for Children-Revised (WISC-R) (for 6-16 age). Of the 57 patients, 50 had EA+ distal TEF (87.7 %), six had isolated EA (10.5 %) and one had isolated TEF (1.8 %). Of the total patients, 18 cases (31 %) died and remaining 39 cases (69 %) survived. In the surviving cases, the most common long-term complication was dysphagia (n = 37, 94.8 %). Intellectual levels of the 24 patients assessed by ADSI were normal and of the remaining 15 cases evaluated by WISC-R ranged between 95 and 110 points. The long-term complications and hospital visits are common in surviving cases of EA; however, they have normal cognitive functions and physical developmental characteristics.

Psychiatric Disorders in Outpatients With Borderline Intellectual Functioning: Comparison With Both Outpatients From Regular Mental Health Care and Outpatients With Mild Intellectual Disabilities

PubMed Central

Wieland, Jannelien; Haan, Sara Kapitein-de; Zitman, Frans G

2014-01-01

Objective: In the Netherlands, patients with borderline intellectual functioning are eligible for specialized mental health care. This offers the unique possibility to examine the mix of psychiatric disorders in patients who, in other countries, are treated in regular outpatient mental health care clinics. Our study sought to examine the rates of all main Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, Axis I psychiatric diagnoses in outpatients with borderline intellectual functioning of 2 specialized regional psychiatric outpatient departments and to compare these with rates of the same disorders in outpatients from regular mental health care (RMHC) and outpatients with mild intellectual disabilities (IDs). Method: Our study was a cross-sectional, anonymized medical chart review. All participants were patients from the Dutch regional mental health care provider Rivierduinen. Diagnoses of patients with borderline intellectual functioning (borderline intellectual functioning group; n = 235) were compared with diagnoses of patients from RMHC (RMHC group; n = 1026) and patients with mild ID (mild ID group; n = 152). Results: Compared with the RMHC group, psychotic and major depressive disorders were less common in the borderline intellectual functioning group, while posttraumatic stress disorder and V codes were more common. Compared with the mild ID group, psychotic disorders were significantly less common. Conclusion: Mental health problems in people with borderline intellectual functioning may not be well addressed in general psychiatry, or by standard psychiatry for patients with ID. Specific attention to this group in clinical practice and research may be warranted lest they fall between 2 stools. PMID:25007114

Psychiatric disorders in outpatients with borderline intellectual functioning: comparison with both outpatients from regular mental health care and outpatients with mild intellectual disabilities.

PubMed

Wieland, Jannelien; Kapitein-de Haan, Sara; Zitman, Frans G

2014-04-01

In the Netherlands, patients with borderline intellectual functioning are eligible for specialized mental health care. This offers the unique possibility to examine the mix of psychiatric disorders in patients who, in other countries, are treated in regular outpatient mental health care clinics. Our study sought to examine the rates of all main Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, Axis I psychiatric diagnoses in outpatients with borderline intellectual functioning of 2 specialized regional psychiatric outpatient departments and to compare these with rates of the same disorders in outpatients from regular mental health care (RMHC) and outpatients with mild intellectual disabilities (IDs). Our study was a cross-sectional, anonymized medical chart review. All participants were patients from the Dutch regional mental health care provider Rivierduinen. Diagnoses of patients with borderline intellectual functioning (borderline intellectual functioning group; n = 235) were compared with diagnoses of patients from RMHC (RMHC group; n = 1026) and patients with mild ID (mild ID group; n = 152). Compared with the RMHC group, psychotic and major depressive disorders were less common in the borderline intellectual functioning group, while posttraumatic stress disorder and V codes were more common. Compared with the mild ID group, psychotic disorders were significantly less common. Mental health problems in people with borderline intellectual functioning may not be well addressed in general psychiatry, or by standard psychiatry for patients with ID. Specific attention to this group in clinical practice and research may be warranted lest they fall between 2 stools.

Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

PubMed Central

Pohodich, Amy E; Yalamanchili, Hari; Raman, Ayush T; Wan, Ying-Wooi; Gundry, Michael; Hao, Shuang; Jin, Haijing; Tang, Jianrong; Liu, Zhandong

2018-01-01

Clinical trials are currently underway to assess the efficacy of forniceal deep brain stimulation (DBS) for improvement of memory in Alzheimer’s patients, and forniceal DBS has been shown to improve learning and memory in a mouse model of Rett syndrome (RTT), an intellectual disability disorder caused by loss-of-function mutations in MECP2. The mechanism of DBS benefits has been elusive, however, so we assessed changes in gene expression, splice isoforms, DNA methylation, and proteome following acute forniceal DBS in wild-type mice and mice lacking Mecp2. We found that DBS upregulates genes involved in synaptic function, cell survival, and neurogenesis and normalized expression of ~25% of the genes altered in Mecp2-null mice. Moreover, DBS induced expression of 17–24% of the genes downregulated in other intellectual disability mouse models and in post-mortem human brain tissue from patients with Major Depressive Disorder, suggesting forniceal DBS could benefit individuals with a variety of neuropsychiatric disorders. PMID:29570050

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis.

PubMed

Ulmer, Francis F; Landolt, Markus A; Vinh, Russia Ha; Huisman, Thierry A G M; Neuhaus, Thomas J; Latal, Bea; Laube, Guido F

2009-07-01

Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited. We have investigated nine patients (four after renal transplantation) at a median age of 9.7 years (range 5.3-19.9 years). Intellectual performance (IP) was analysed with the Wechsler Intelligence Scale for Children-III (seven children) and the Kaufman Assessment Battery for Children (two children). Motor performance (MP) was evaluated using the Zurich Neuromotor Assessment Test, and quality of life (QOL) was studied by means of the Netherlands Organization for Applied Scientific Research Academical Medical Center Child Quality of Life Questionnaire. Psychosocial adjustment was assessed by the Child Behavior Checklist. The overall intelligence quotient (IQ) of our patient cohort (median 92, range 71-105) was significantly lower than that of the healthy controls (p = 0.04), with two patients having an IQ < 85. Verbal IQ (93, range 76-118) was significantly higher than performance IQ (90, range 68-97; p = 0.03). The MP was significantly below the norm for pure motor, pegboard and static balance, as well as for movement quality. The patients' QOL was normal for six of seven dimensions (exception being positive emotions), whereas parents reported significant impairment in positive emotions, autonomy, social and cognitive functions. Significant disturbance was noted in terms of psychosocial adjustment. Based on the results from our small patient cohort, we conclude that intellectual and motor performance, health-related QOL and psychosocial adjustment are significantly impaired in children and adolescents with cystinosis.

Executive Function in Children with Intellectual Disability--The Effects of Sex, Level and Aetiology of Intellectual Disability

ERIC Educational Resources Information Center

Memisevic, H.; Sinanovic, O.

2014-01-01

Background: Executive function is very important in the children's overall development. The goal of this study was to assess the executive function in children with intellectual disability (ID) through the use of the Behavior Rating Inventory of Executive Function (BRIEF) teacher version. An additional goal was to examine the differences in…

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

PubMed Central

Iqbal, Zafar; Willemsen, Marjolein H.; Papon, Marie-Amélie; Musante, Luciana; Benevento, Marco; Hu, Hao; Venselaar, Hanka; Wissink-Lindhout, Willemijn M.; Vulto-van Silfhout, Anneke T.; Vissers, Lisenka E.L.M.; de Brouwer, Arjan P.M.; Marouillat, Sylviane; Wienker, Thomas F.; Ropers, Hans Hilger; Kahrizi, Kimia; Nadif Kasri, Nael; Najmabadi, Hossein; Laumonnier, Frédéric; Kleefstra, Tjitske; van Bokhoven, Hans

2015-01-01

We report on Dutch and Iranian families with affected individuals who present with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals. A combination of exome sequencing and homozygosity mapping revealed homozygous mutations c.484G>A (p.Gly162Arg) and c.1898C>G (p.Pro633Arg) in SLC6A17. SLC6A17 is predominantly expressed in the brain, encodes a synaptic vesicular transporter of neutral amino acids and glutamate, and plays an important role in the regulation of glutamatergic synapses. Prediction programs and 3D modeling suggest that the identified mutations are deleterious to protein function. To directly test the functional consequences, we investigated the neuronal subcellular localization of overexpressed wild-type and mutant variants in mouse primary hippocampal neuronal cells. Wild-type protein was present in soma, axons, dendrites, and dendritic spines. p.Pro633Arg altered SLC6A17 was found in soma and proximal dendrites but did not reach spines. p.Gly162Arg altered SLC6A17 showed a normal subcellular distribution but was associated with an abnormal neuronal morphology mainly characterized by the loss of dendritic spines. In summary, our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability, and their pathogenic role is strengthened by genetic evidence and in silico and in vitro functional analyses. PMID:25704603

The health-related quality of life of children with refractory epilepsy: a comparison of those with and without intellectual disability.

PubMed

Sabaz, M; Cairns, D R; Lawson, J A; Bleasel, A F; Bye, A M

2001-05-01

To determine whether refractory epilepsy affects the health-related quality of life (HRQOL) of children with or without intellectual disability (ID), and if the presence of ID independently compromises HRQOL in children with refractory epilepsy. Subjects were parents of children with refractory epilepsy, whose syndrome had been defined using ILAE (International League Against Epilepsy) criteria and video-EEG monitoring. Children had the presence or absence of ID determined by formal neuropsychological or educational assessment. The relative effect of epilepsy on the two intellectual ability groups was determined using relevant clinical variables. Parents completed a valid epilepsy-specific HRQOL questionnaire for children, the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE), and, depending on intellectual ability level, the Child Behaviour Checklist or Developmental Behaviour Checklist. Both intellectually normal children with epilepsy and children with epilepsy and ID were more likely to have psychosocial problems compared with their respective intellectual ability reference populations. The results also revealed that children with ID had reduced HRQOL compared with intellectually normal children; a result independent of epilepsy. Analysis of the relationship between epilepsy variables and HRQOL revealed that the QOLCE was the most sensitive in detecting variation in age at onset, seizure frequency, and medications taken. The HRQOL of children with refractory epilepsy is greatly affected, regardless of intellectual ability level. The presence of ID in children with epilepsy independently depresses HRQOL outcomes. Compared with two generic HRQOL measures, the QOLCE was the most sensitive measure to variation in epilepsy variables.

Assessment of Executive Functions in Prader-Willi Syndrome and Relationship with Intellectual Level

ERIC Educational Resources Information Center

Chevalere, J.; Postal, V.; Jauregui, J.; Copet, P.; Laurier, V.; Thuilleaux, D.

2013-01-01

Introduction: The aim of the present study was to determine whether individuals with Prader--Willi syndrome (PWS) have impaired global executive functioning and whether this deficit is linked with intellectual disability. Another objective focussed on the variability in performance of intellectual quotient (IQ) and executive functions (EF)…

DSM-IV stereotypic movement disorder: persistence of stereotypies of infancy in intellectually normal adolescents and adults.

PubMed

Castellanos, F X; Ritchie, G F; Marsh, W L; Rapoport, J L

1996-03-01

As part of a broader series of studies on unwanted repetitive behaviors, DSM-IV stereotypic movement disorder (SMD) was examined in an intellectually normal population. Repetitive nonfunctional behaviors, or stereotypies, are expressed during early normal development but have not been described in adults without severe psychiatric or intellectual impairment. Lifetime and current psychiatric Axis I diagnoses were determined by structured and clinical interviews in subjects who responded to a newspaper advertisement that specifically mentioned rocking and head banging. Of 52 potential subjects who were screened by telephone, 32 had been previously diagnosed with an Axis I psychiatric disorder, which presumably accounted for the repetitive behavior, or were otherwise excluded. Of 20 who were interviewed in person, 12 met DSM-IV criteria for SMD; rocking or thumb sucking was present in 8 of these 12. Four of 8 rockers had a first-degree relative who had a lifetime history of a similar repetitive behavior. A lifetime history of an affective or anxiety disorder was found for 11 of 12 SMD subjects. DSM-IV stereotypic movement disorder can be diagnosed in intellectually normal individuals. Although sampling bias was probable, prominent stereotypies in individuals meeting the DSM-IV criteria for stereotypic movement disorder, which are narrower than the DSM-III-R criteria for stereotypy/habit disorder, seem likely to include rocking and thumb sucking. The likelihood of persistence of these behaviors, which are developmentally appropriate in infancy, may be enhanced by comorbidity with anxiety or affective disorders.

[Neuropsychological data about children with autistic disorder and an intellectual development within what is considered to be a normal span of time].

PubMed

Carvajal-Molina, F; Alcamí-Pertejo, M; Peral-Guerra, M; Vidriales-Fernández, R; Martín-Plasencia, P

Characteristic symptoms of autistic disorder (AD) can be the result of cognitive impairment which can be produced by specific neurological irregularities. Up until now a specific cognitive deficit in autism has not been found, although the majority of people with autism show intellectual impairment, verbal scores lower than manipulative measures and executive dysfunctions. A neuropsychological evaluation of children with AD was planned. These children had intellectual abilities in the normal range. They were compared with two other groups, one with pervasive developmental disorder not otherwise specified (PDD-NS), and the other from the general population. A battery of neuropsychological tests was carried out on five boys AD, five boys PDD-NS, and five boys of the general population. All of them were between 9 and 15 years old and their intellectual abilities were within the normal range. The children AD obtained verbal scores lower than their visual-perception scores. They also showed good dynamic coordination of movement. Scores in episodic memory tasks where executive strategies are needed were low. The characteristics described in the paper do not demonstrate a specific profile of the AD, but they can be useful in diagnoses and in planning treatment.

Functional Communication Profiles in Children with Cerebral Palsy in Relation to Gross Motor Function and Manual and Intellectual Ability.

PubMed

Choi, Ja Young; Park, Jieun; Choi, Yoon Seong; Goh, Yu Ra; Park, Eun Sook

2018-07-01

The aim of the present study was to investigate communication function using classification systems and its association with other functional profiles, including gross motor function, manual ability, intellectual functioning, and brain magnetic resonance imaging (MRI) characteristics in children with cerebral palsy (CP). This study recruited 117 individuals with CP aged from 4 to 16 years. The Communication Function Classification System (CFCS), Viking Speech Scale (VSS), Speech Language Profile Groups (SLPG), Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and intellectual functioning were assessed in the children along with brain MRI categorization. Very strong relationships were noted among the VSS, CFCS, and SLPG, although these three communication systems provide complementary information, especially for children with mid-range communication impairment. These three communication classification systems were strongly related with the MACS, but moderately related with the GMFCS. Multiple logistic regression analysis indicated that manual ability and intellectual functioning were significantly related with VSS and CFCS function, whereas only intellectual functioning was significantly related with SLPG functioning in children with CP. Communication function in children with a periventricular white matter lesion (PVWL) varied widely. In the cases with a PVWL, poor functioning was more common on the SLPG, compared to the VSS and CFCS. Very strong relationships were noted among three communication classification systems that are closely related with intellectual ability. Compared to gross motor function, manual ability seemed more closely related with communication function in these children. © Copyright: Yonsei University College of Medicine 2018.

Long-Term Intellectual Functioning and School-Related Behavioural Outcomes in Children and Adolescents after Invasive Treatment for Congenital Heart Disease

ERIC Educational Resources Information Center

Spijkerboer, A. W.; Utens, E. M. W. J.; Bogers, A. J. J. C.; Verhulst, F. C.; Helbing, W. A.

2008-01-01

In this study, long-term intellectual functioning and school-related behavioural outcomes were assessed in a patient sample that underwent invasive treatment for congenital heart disease (ConHD) between 1990 and 1995. The Wechsler Intelligence Scale for Children-Revised was used to measure intellectual functioning and the Teacher's Report Form to…

Longitudinal Trajectories of Intellectual and Adaptive Functioning in Adolescents and Adults with Williams Syndrome

ERIC Educational Resources Information Center

Fisher, M. H.; Lense, M. D.; Dykens, E. M.

2016-01-01

Background: Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because…

Normalization vs. Social Role Valorization: Similar or Different?

ERIC Educational Resources Information Center

Kumar, Akhilesh; Singh, Rajani Ranjan; Thressiakutty, A. T.

2015-01-01

The radical changes towards services for persons with disabilities were brought by Principle of Normalization, originated in 1969. As a consequence of Normalization, disability as a whole, and intellectual disability in particular, received the attention of the masses and the intelligentsia began advocating normalization ideologies which became…

[Poverty and mental disability in the criminal law: The invisibles].

PubMed

Mercurio, Ezequiel N

2016-05-01

In recent decades neuroscience research show the negative consequences of poverty in cognitive development. Environmental factors, such as material deprivation, exposure to stressful situations, violence, nutritional deprivation, environmental toxins may shape the developing brain. The changes of the structure and function of the brain since prenatal stages and their consequences can remain stable throughout the life cycle except early interventions are made. Research investigating have found significant link between child poverty and function and structural brain focusing on prefrontal cortex (i.e., executive functions), hippocampus (learning and memory), amygdala (i.e., fear and emotional processing) and Left Occipitotemporal and Perisylvian Regions (Language and Reading) In recent years, international studies show a growing population with intellectual disabilities in prisons. However, in criminal justice, people with mild intellectual disabilities suffer a normalization process. A lack of access to adequate diagnosis operate as an omission this vulnerable group, as a result the State deprive access to support systems guaranteed in international declarations of Human Rights. Furthermore neglect, discrimination, lack of access to comprehensive health and appropriate social interventions deepen in prison. It is for this reason that from a current human rights perspective a person with disability in jail becomes a doubly vulnerable subject.

[Cognitive functions of school children with normal IQ and histories of severe and early malnutrition].

PubMed

Perales, C G; Heresi, E; Pizarro, F; Colombo, M

1996-12-01

This is a cross section study designed to evaluate the long lasting consequences of early and severe undernutrition on the development of basic cognitive functions. Attention, memory and problem-solving capacity were assessed in a group of 16 school children, who were severely undernourished during the first two years of age. They were compared with a group of 16 children with a normal growth. All subjects, age 8 to 10, had a normal intellectual coefficient and they belonged to the me same socioeconomical level. Memory was measured with a modified version of subtest of digits from WISC; attention was evaluated with a modified version of the Continuous Performance Task and problem-solving was measured with the Anstey Domino Test. A personal computer was used to assess the cognitive functions. The children who were undernourished during infancy presented lower scores in memory (number of the digits) and in problems solving (number of correct answers). They also had a worse performance than the control group in the same response time, when attention was evaluated. These results suggest that early severe undernutrition had deletereous effects on basic cognitive functions.

Sibling Relationship Quality and Social Functioning of Children and Adolescents with Intellectual Disability

ERIC Educational Resources Information Center

Floyd, Frank J.; Purcell, Susan E.; Richardson, Shana S.; Kupersmidt, Janis B.

2009-01-01

We examined sibling relationships for children and adolescents with intellectual disability and assessed implications for their social functioning. Targets (total N = 212) had either intellectual disability, a chronic illness/physical disability, or no disability. Nontarget siblings reported on relationship quality, sibling interactions were…

Working Memory Functions in Children with Different Degrees of Intellectual Disability

ERIC Educational Resources Information Center

Schuchardt, K.; Gebhardt, M.; Maehler, C.

2010-01-01

Background: In recent years, there has been increased research interest in the functioning of working memory in people with intellectual disabilities. Although studies have repeatedly found these individuals to have weak working memory skills, few investigations have distinguished between different degrees of intellectual disability. This study…

Family functioning in families with a child with Down syndrome: a mixed methods approach.

PubMed

Povee, K; Roberts, L; Bourke, J; Leonard, H

2012-10-01

This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. The quantitative component examined the effect of maladaptive and autism-spectrum behaviours on the functioning of the family while the qualitative component explored the impact of having a child with Down syndrome on family holidays, family activities and general family functioning. Participants in this study were 224 primary caregivers of children with Down syndrome aged 4-25 years (57.1% male; 42.9% female) currently residing in Western Australia (74.0% in metropolitan Perth and 26.0% in rural Western Australia). Maladaptive and autism-spectrum behaviour were associated with poorer family functioning. Mean total scores on the measures of family functioning and marital adjustment were comparable to that of families of typically developing children. Consistent with the quantitative findings, normality was the most common theme to emerge in the qualitative data. Child problem behaviours were also identified by parents/carers as having a negative impact on the family. This study has implications for the development of programs to support families with a child with Down syndrome and may dispel some of the myths surrounding the impact of intellectual disability on the family. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

PubMed

Iqbal, Zafar; Willemsen, Marjolein H; Papon, Marie-Amélie; Musante, Luciana; Benevento, Marco; Hu, Hao; Venselaar, Hanka; Wissink-Lindhout, Willemijn M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M; de Brouwer, Arjan P M; Marouillat, Sylviane; Wienker, Thomas F; Ropers, Hans Hilger; Kahrizi, Kimia; Nadif Kasri, Nael; Najmabadi, Hossein; Laumonnier, Frédéric; Kleefstra, Tjitske; van Bokhoven, Hans

2015-03-05

We report on Dutch and Iranian families with affected individuals who present with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals. A combination of exome sequencing and homozygosity mapping revealed homozygous mutations c.484G>A (p.Gly162Arg) and c.1898C>G (p.Pro633Arg) in SLC6A17. SLC6A17 is predominantly expressed in the brain, encodes a synaptic vesicular transporter of neutral amino acids and glutamate, and plays an important role in the regulation of glutamatergic synapses. Prediction programs and 3D modeling suggest that the identified mutations are deleterious to protein function. To directly test the functional consequences, we investigated the neuronal subcellular localization of overexpressed wild-type and mutant variants in mouse primary hippocampal neuronal cells. Wild-type protein was present in soma, axons, dendrites, and dendritic spines. p.Pro633Arg altered SLC6A17 was found in soma and proximal dendrites but did not reach spines. p.Gly162Arg altered SLC6A17 showed a normal subcellular distribution but was associated with an abnormal neuronal morphology mainly characterized by the loss of dendritic spines. In summary, our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability, and their pathogenic role is strengthened by genetic evidence and in silico and in vitro functional analyses. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

NMDA receptor hypofunction in the dentate gyrus and impaired context discrimination in adult Fmr1 knockout mice.

PubMed

Eadie, Brennan D; Cushman, Jesse; Kannangara, Timal S; Fanselow, Michael S; Christie, Brian R

2012-02-01

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability in humans. This X-linked disorder is caused by the transcriptional repression of a single gene, Fmr1. The loss of Fmr1 transcription prevents the production of Fragile X mental retardation protein (FMRP) which in turn disrupts the expression of a variety of key synaptic proteins that appear to be important for intellectual ability. A clear link between synaptic dysfunction and behavioral impairment has been elusive, despite the fact that several animal models of FXS have been generated. Here we report that Fmr1 knockout mice exhibit impaired bidirectional synaptic plasticity in the dentate gyrus (DG) of the hippocampus. These deficits are associated with a novel decrease in functional NMDARs (N-methyl-D-aspartate receptors). In addition, mice lacking the Fmr1 gene show impaired performance in a context discrimination task that normally requires functional NMDARs in the DG. These data indicate that Fmr1 deletion results in significant NMDAR-dependent electrophysiological and behavioral impairments specific to the DG. Copyright © 2010 Wiley Periodicals, Inc.

The effectiveness of psychosocial interventions for children with a psychiatric disorder and mild intellectual disability to borderline intellectual functioning: A systematic literature review and meta-analysis.

PubMed

Kok, Lidwien; van der Waa, Anne; Klip, Helen; Staal, Wouter

2016-01-01

Children with intellectual disability frequently have difficulties in adapting to their environment. The extent of the experienced problems does not only depend on cognitive functioning but is influenced by other factors, such as the presence of a psychiatric disorder or other brain disorders, or adverse environmental factors. Several epidemiological studies show that children with intellectual disabilities are at an increased risk to develop psychiatric disorders. This is also true for youth with a mild intellectual disability and even those with borderline intellectual functioning (mild to borderline intellectual disability (MBID)). Psychiatric disorders are often overlooked because behavioral problems are rather attributed to the intellectual disability. Consequently, effective psychiatric interventions, which are needed to improve the level of functioning, are not applied. This review aimed to systematically evaluate the currently available, qualitatively sound research concerning the effectiveness of psychosocial interventions, specifically directed at psychiatric disorders in children with MBID. Assessed for eligibility were 1409 unique reports, and the review ultimately included only 12 reports. Review of the results and meta-analyses showed that the majority of studies suffer from multiple limitations and that methodological variations between studies are extensive. This possibly reflects the high variance of factors that may be involved in MBID. It will be important in future research to address multi-causality. © The Author(s) 2015.

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

PubMed

Luo, Xiaomei; Zou, Yongyi; Tan, Bo; Zhang, Yue; Guo, Jing; Zeng, Lanlan; Zhang, Rui; Tan, Hu; Wei, Xianda; Hu, Yiqiao; Zheng, Yu; Liang, Desheng; Wu, Lingqian

2017-04-01

GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we identified two novel heterozygous frameshift mutations of GATAD2B in two unrelated ID cases through next-generation sequencing (NGS). Both of the mutations c.80_81insGATGT and c.552_555delGAAA cause truncated proteins that might be detrimental to neurodevelopment. We performed western blotting and observed a reduction in the target protein compared with normal controls. This is the first report of GATAD2B in Chinese ID patients. Our findings will broaden the spectrum of GATAD2B mutations and facilitate genetic diagnosis and counseling.

Factors of the Earning Functions and Their Influence on the Intellectual Capital of an Organization

ERIC Educational Resources Information Center

Ileanu, Bogdan Vasile; Tanasoiu, Ovidiu Emil

2008-01-01

This paper tries to consider some earning function as "start point" for the construction of indicators for intellectual capital measure. The analyze combines concepts from Mincer's and Becker theories and intellectual capital definitions currently in use. The correlation, significance and relation between elements are shown using three econometric…

Assessment of Functional Caregiving in Homes with a Child with an Intellectual Disability

ERIC Educational Resources Information Center

Bezruczko, Nikolaus; Chen, Shu-Pi C.; Gulley, S. Beverly; Maher, Joan M.; Lawton, Cathrine S.

2011-01-01

The authors report on the nature of assessing functional caregiving (FC) via three studies, conducted by a university-public preschool collaboration that was designed to measure mothers' confidence to care for children with intellectual disabilities in their homes. Caregiving of children with intellectual disabilities was conceptualized in terms…

Effect of Incorporating Adaptive Functioning Scores on the Prevalence of Intellectual Disability

ERIC Educational Resources Information Center

Obi, Obianuju; Braun, Kim Van Naarden; Baio, Jon; Drews-Botsch, Carolyn; Devine, Owen; Yeargin-Allsopp, Marshalyn

2011-01-01

Surveillance and epidemiologic research on intellectual disability often do not incorporate adaptive functioning (AF) data. Exclusion of AF data leads to overestimation of the prevalence of intellectual disability, the extent of which is not known. In this study, the authors evaluated the effect of incorporating AF data on overall intellectual…

Occult White Matter Damage Contributes to Intellectual Disability in Tuberous Sclerosis Complex

ERIC Educational Resources Information Center

Yu, Chunshui; Lin, Fuchun; Zhao, Li; Ye, Jing; Qin, Wen

2009-01-01

Whether patients with tuberous sclerosis complex (TSC) have brain normal-appearing white matter (NAWM) damage and whether such damage contributes to their intellectual disability were examined in 15 TSC patients and 15 gender- and age-matched healthy controls using diffusion tensor imaging (DTI). Histogram and region of interest (ROI) analyses of…

Enhancing Visual Search Abilities of People with Intellectual Disabilities

ERIC Educational Resources Information Center

Li-Tsang, Cecilia W. P.; Wong, Jackson K. K.

2009-01-01

This study aimed to evaluate the effects of cueing in visual search paradigm for people with and without intellectual disabilities (ID). A total of 36 subjects (18 persons with ID and 18 persons with normal intelligence) were recruited using convenient sampling method. A series of experiments were conducted to compare guided cue strategies using…

Relationships between visual-motor and cognitive abilities in intellectual disabilities.

PubMed

Di Blasi, Francesco D; Elia, Flaviana; Buono, Serafino; Ramakers, Ger J A; Di Nuovo, Santo F

2007-06-01

The neurobiological hypothesis supports the relevance of studying visual-perceptual and visual-motor skills in relation to cognitive abilities in intellectual disabilities because the defective intellectual functioning in intellectual disabilities is not restricted to higher cognitive functions but also to more basic functions. The sample was 102 children 6 to 16 years old and with different severities of intellectual disabilities. Children were administered the Wechsler Intelligence Scale for Children, the Bender Visual Motor Gestalt Test, and the Developmental Test of Visual Perception, and data were also analysed according to the presence or absence of organic anomalies, which are etiologically relevant for mental disabilities. Children with intellectual disabilities had deficits in perceptual organisation which correlated with the severity of intellectual disabilities. Higher correlations between the spatial subtests of the Developmental Test of Visual Perception and the Performance subtests of the Wechsler Intelligence Scale for Children suggested that the spatial skills and cognitive performance may have a similar basis in information processing. Need to differentiate protocols for rehabilitation and intervention for recovery of perceptual abilities from general programs of cognitive stimulations is suggested.

Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.

PubMed

Antonini, Tanya N; Van Horn Kerne, Valerie; Axelrad, Marni E; Karaviti, Lefkothea P; Schwartz, David D

2015-07-01

DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK phocomelia syndrome. © 2015 Wiley Periodicals, Inc.

What Are Neural Tube Defects?

MedlinePlus

... are born with spina bifida will have normal intelligence, but some will have learning or intellectual disabilities . ... effects, some children with this condition have normal intelligence. 6 Iniencephaly Iniencephaly(pronounced in-ee-ehn-SEF- ...

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

PubMed Central

Hsu, Ying; Kim, Gunhee; Zhang, Qihong; Datta, Poppy; Seo, Seongjin

2017-01-01

Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored. We demonstrate that BBS mutant mice have defects in retinal outer segment morphogenesis. We further demonstrate that removal of Bbs8 in adult mice affects photoreceptor function and disrupts the structural integrity of the outer segment. Notably, using a mouse model in which a gene trap inhibiting Bbs8 gene expression can be removed by an inducible FLP recombinase, we show that when BBS8 is restored in immature retinas with malformed outer segments, outer segment extension can resume normally and malformed outer segment discs are displaced distally by normal outer segment structures. Over time, the retinas of the rescued mice become morphologically and functionally normal, indicating that there is a window of plasticity when initial retinal outer segment morphogenesis defects can be ameliorated. PMID:29049287

Study of menstrual patterns in adolescent girls with disabilities in a residential institution.

PubMed

Joshi, Ganesh Arun; Joshi, Prajakta Ganesh

2015-02-01

The gynecological health needs of girls with disabilities is an issue related to their rights as individuals. The objective of this study is to describe the menstrual pattern of girls with disabilities. A descriptive study was undertaken on thirty girls with different types of disabilities in a residential institution. The diagnosis, type of disability, secondary sexual characters, age at menarche, menstrual pattern and practice of menstrual hygiene was noted. The girls with intellectual disabilities had later age of menarche, irregular cycles and more behaviour problems. The girls with hearing impairment and locomotor disabilities had normal menstrual pattern. The girl with low vision had earlier menarche and regularized cycles. Girls with normal intelligence and mild intellectual disabilities were independent in maintaining menstrual hygiene. The menstrual disorders are managed conservatively in accordance with latest guidelines. Onset of menarche is towards the extremes of normal age range in girls with intellectual disabilities or visual impairment but not in girls with hearing impairments or locomotor disabilities. Girls with disabilities have potential for independent menstrual care. Menstrual disorders were managed conservatively.

Speed of processing and reading disability: a cross-linguistic investigation of dyslexia and borderline intellectual functioning.

PubMed

Bonifacci, Paola; Snowling, Margaret J

2008-06-01

English and Italian children with dyslexia were compared with children with reading difficulties associated with low-IQ on tests of simple and choice RT, and in number and symbol scanning tasks. On all four speed-of-processing tasks, children with low-IQ responded more slowly than children with dyslexia and age-controls. In the choice RT task, the performance of children with low-IQ was also less accurate than that of children of normal IQ, consistent with theories linking processing speed limitations with low-IQ. These findings support the hypothesis that dyslexia is a specific cognitive deficit that can arise in the context of normal IQ and normal speed of processing. The same cognitive phenotype was observed in readers of a deep (English) and a shallow (Italian) orthography.

Classification of intellectual disability using the Wechsler Intelligence Scale for Children: Full Scale IQ or General Abilities Index?

PubMed

Koriakin, Taylor A; McCurdy, Mark D; Papazoglou, Aimilia; Pritchard, Alison E; Zabel, T Andrew; Mahone, E Mark; Jacobson, Lisa A

2013-09-01

We examined the implications of using the Full Scale IQ (FSIQ) versus the General Abilities Index (GAI) for determination of intellectual disability using the Wechsler Intelligence Scales for Children, fourth edition (WISC-IV). Children referred for neuropsychological assessment (543 males, 290 females; mean age 10y 5mo, SD 2y 9mo, range 6-16y) were administered the WISC-IV and the Adaptive Behavior Assessment System, second edition (ABAS-II). GAI and FSIQ were highly correlated; however, fewer children were identified as having intellectual disability using GAI (n=159) than when using FSIQ (n=196). Although the 44 children classified as having intellectual disability based upon FSIQ (but not GAI) had significantly higher adaptive functioning scores than those meeting intellectual disability criteria based upon both FSIQ and GAI, mean adaptive scores still fell within the impaired range. FSIQ and GAI were comparable in predicting impairments in adaptive functioning. Using GAI rather than FSIQ in intellectual disability diagnostic decision-making resulted in fewer individuals being diagnosed with intellectual disability; however, the mean GAI of the disqualified individuals was at the upper end of criteria for intellectual impairment (standard score 75), and these individuals remained adaptively impaired. As GAI and FSIQ were similarly predictive of overall adaptive functioning, the use of GAI for intellectual disability diagnostic decision-making may be of limited value. © 2013 Mac Keith Press.

Stimulus Over-Selectivity and Extinction-Induced Recovery of Performance as a Product of Intellectual Impairment and Autism Severity

ERIC Educational Resources Information Center

Kelly, Michelle P.; Leader, Geraldine; Reed, Phil

2015-01-01

The current experiment investigated the extent to which three variables (autism severity, nonverbal intellectual functioning, and verbal intellectual functioning) are associated with over-selective responding in a group of children with Autism Spectrum Disorder. This paper also analyzed the association of these three variables with the recovery of…

Executive Functions in Individuals with Intellectual Disability

ERIC Educational Resources Information Center

Danielsson, Henrik; Henry, Lucy; Ronnberg, Jerker; Nilsson, Lars-Goran

2010-01-01

The aim of the present study was to investigate executive functions in adults with intellectual disability, and compare them to a closely matched control group longitudinally for 5 years. In the Betula database, a group of adults with intellectual disability (ID, n = 46) was defined from measures of verbal and non-verbal IQ. A control group, with…

Level of Sense-Making in Children with Autistic Disorder and Intellectual Disability: Patterns of Delay and Deviance in Development

ERIC Educational Resources Information Center

Maljaars, Jarymke; Noens, Ilse; Scholte, Evert; van Berckelaer-Onnes, Ina

2012-01-01

The present study examined levels of sense-making in relation to adaptive functioning and autism symptomatology in low-functioning children with autistic disorder. Thirty-six children with autistic disorder and intellectual disability were compared with 27 children with intellectual disability and 33 typically developing children with a comparable…

Effects of Age, Intelligence and Executive Control Function on Saccadic Reaction Time in Persons with Intellectual Disabilities

ERIC Educational Resources Information Center

Haishi, Koichi; Okuzumi, Hideyuki; Kokubun, Mitsuru

2011-01-01

The current research aimed to clarify the influence of age, intelligence and executive control function on the central tendency and intraindividual variability of saccadic reaction time in persons with intellectual disabilities. Participants were 44 persons with intellectual disabilities aged between 13 and 57 years whose IQs were between 14 and…

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

PubMed

Frints, Suzanna G M; Ozanturk, Aysegul; Rodríguez Criado, Germán; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; E Hickey, Scott; Kammoun, Molka; Gripp, Karen W; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mihalic Mosher, Theresa; Kelly, Benjamin J; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C; van Roozendaal, Kees E P; Hu, Hao; Haas, Stefan A; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M

2018-05-04

RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations. In contrast, 44 heterozygous female carriers have normal cognition and behavior, but eight showed mild physical features. All RLIM variants identified are missense changes co-segregating with the phenotype and predicted to affect protein function. Eight of the nine altered amino acids are conserved and lie either within a domain essential for binding interacting proteins or in the C-terminal RING finger catalytic domain. In vitro experiments revealed that these amino acid changes in the RLIM RING finger impaired RLIM ubiquitin ligase activity. In vivo experiments in rlim mutant zebrafish showed that wild type RLIM rescued the zebrafish rlim phenotype, whereas the patient-specific missense RLIM variants failed to rescue the phenotype and thus represent likely severe loss-of-function mutations. In summary, we identified a spectrum of RLIM missense variants causing syndromic XLID and affecting the ubiquitin ligase activity of RLIM, suggesting that enzymatic activity of RLIM is required for normal development, cognition and behavior.

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

PubMed Central

Thomas, Anna C.; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O’Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J.; Pai, Yun Jin; Saraiva, Jorge M.; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W.; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Sousa, Sérgio B.; Stanier, Philip

2014-01-01

Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum. PMID:25439728

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

PubMed

Thomas, Anna C; Williams, Hywel; Setó-Salvia, Núria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J; Pai, Yun Jin; Saraiva, Jorge M; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E; Sousa, Sérgio B; Stanier, Philip

2014-11-06

Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with recessively inherited moderate-severe intellectual disability, cerebellar ataxia, early-onset cerebellar atrophy, sensorineural hearing loss, and the distinctive association of progressively coarsening facial features, relative macrocephaly, and the absence of seizures. We used homozygosity mapping and whole-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in two families. A homozygous splice site mutation was identified by Sanger sequencing of SNX14 in a third family, selected purely by phenotypic similarity. This discovery confirms that these characteristic features represent a distinct and recognizable syndrome. SNX14 encodes a cellular protein containing Phox (PX) and regulator of G protein signaling (RGS) domains. Weighted gene coexpression network analysis predicts that SNX14 is highly coexpressed with genes involved in cellular protein metabolism and vesicle-mediated transport. All three mutations either directly affected the PX domain or diminished SNX14 levels, implicating a loss of normal cellular function. This manifested as increased cytoplasmic vacuolation as observed in cultured fibroblasts. Our findings indicate an essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Nutritional Status and Performance in Test of Verbal and Non-Verbal Intelligence in 6-Year- Old Children

ERIC Educational Resources Information Center

Arija, Victoria; Esparo, Griselda; Fernandez-Ballart, Joan; Murphy, Michelle M.; Biarnes, Elisabeth; Canals, Josefa

2006-01-01

The relationship between nutritional status and intellectual capacity in 6-year-old children was investigated in 83 subjects of medium-high socio-economic status, without any apparent risk of malnutrition and normal or high intellectual capacity. Nutritional status was evaluated by measuring food consumption, anthropometrical measurements and…

Effect of Iodine Excess on Physical and Intellectual Growth of Chinese Children.

ERIC Educational Resources Information Center

Jupp, J. J.; And Others

1988-01-01

Ninety-six children from a high-iodine Chinese village were found to have higher goiter incidence, thyroid gland volume, and urinary/creatinine ratio than 51 children from an iodine-normal village. All children from both villages were euthyroid. Excess iodine did not substantially affect the children's physical or intellectual growth. (Author/JDD)

Underweight, Obesity and Exercise among Adults with Intellectual Disabilities in Supported Accommodation in Northern England

ERIC Educational Resources Information Center

Emerson, E.

2005-01-01

Significant deviation from normal weight (obesity and underweight) and lack of physical exercise have been identified as three of the most significant global behavioural risks to health. Body mass index (BMI) and levels of physical activity were measured in a sample of 1542 adults with intellectual disabilities (ID) receiving supported…

Conversational Interactions between Intellectually Disabled and Normal Progress Adolescents during a Problem-Solving Task.

ERIC Educational Resources Information Center

Okrainec, J. Alexa; Hughes, M. Jeffry

This study investigated the features of verbal disagreements arising among 25 adolescent students with mild intellectual disabilities and 25 of their typical peers. Transcripts of a learning task were coded using an adaptation of Eisenberg's (1992) scheme for analyzing verbal conflicts. Findings of the study indicate: (1) in verbal conflict…

Deconstructing Normalisation: Clearing the Way for Inclusion.

ERIC Educational Resources Information Center

Culham, Andrew; Nind, Melanie

2003-01-01

This paper considers two major movements affecting the lives of people with intellectual disabilities: normalization and inclusion. It reviews the aims, processes, and outcomes of the normalization and social role valorization movement and explores its compatibility with inclusion. Lessons from normalization are applied to the inclusion movement.…

Symptoms of Psychopathology in Adults with Intellectual Disability and Seizures

ERIC Educational Resources Information Center

Fitzgerald, Mary E.; Matson, Johnny L.; Barker, Alyse

2011-01-01

Seizures are more common in individuals with intellectual disabilities than in the general population. As a result, differences in functioning for individuals with intellectual disability with and without seizures have been evaluated. Research on differences in psychopathology for individuals with intellectual disability with and without seizures…

The Impact of Intellectual Disability, Caregiver Burden, Family Functioning, Marital Quality, and Sense of Coherence

ERIC Educational Resources Information Center

Al-Krenawi, Alean; Graham, John R.; Al Gharaibeh, Fakir

2011-01-01

The present article is the first to consider the impact of intellectual disability on Bedouin-Arab families' caregiver burden, family functioning, marital quality, and sense of coherence. A random sample of 300 Bedouin-Arab parents with one or more intellectually disabled children, and a control group (n = 100) completed the McMaster Family…

Intellectual Disabilities and Power Spectra Analysis during Sleep: A New Perspective on Borderline Intellectual Functioning

ERIC Educational Resources Information Center

Esposito, M.; Carotenuto, M.

2014-01-01

Background: The role of sleep in cognitive processes has been confirmed by a growing number of reports for all ages of life. Analysing sleep electroencephalogram (EEG) spectra may be useful to study cortical organisation in individuals with Borderline Intellectual Functioning (BIF), as seen in other disturbances even if it is not considered a…

Discrete-Trial Functional Analysis and Functional Communication Training with Three Adults with Intellectual Disabilities and Problem Behavior

ERIC Educational Resources Information Center

Chezan, Laura C.; Drasgow, Erik; Martin, Christian A.

2014-01-01

We conducted a sequence of two studies on the use of discrete-trial functional analysis and functional communication training. First, we used discrete-trial functional analysis (DTFA) to identify the function of problem behavior in three adults with intellectual disabilities and problem behavior. Results indicated clear patterns of problem…

Classification of intellectual disability using the Wechsler Intelligence Scale for Children: Full Scale IQ or General Abilities Index?

PubMed Central

KORIAKIN, TAYLOR A; MCCURDY, MARK D; PAPAZOGLOU, AIMILIA; PRITCHARD, ALISON E; ZABEL, T ANDREW; MAHONE, E MARK; JACOBSON, LISA A

2013-01-01

Aim We examined the implications of using the Full Scale Intelligence Quotient (FSIQ) versus the General Abilities Index (GAI) for determination of intellectual disability using the Wechsler Intelligence Scales for Children, fourth edition (WISC-IV). Method Children referred for neuropsychological assessment (543 males, 290 females; mean age 10y 5mo, SD 2y 9mo, range 6–16y) were administered the WISC-IV and the Adaptive Behavior Assessment System, Second Edition (ABAS-II). Results GAI and FSIQ were highly correlated; however, fewer children were identified as having intellectual disability using GAI (n=159) than when using FSIQ (n=196). Although the 44 children classified as having intellectual disability based upon FSIQ (but not GAI) had significantly higher adaptive functioning scores than those meeting intellectual disability criteria based upon both FSIQ and GAI, mean adaptive scores still fell within the impaired range. FSIQ and GAI were comparable in predicting impairments in adaptive functioning. Interpretation Using GAI rather than FSIQ in intellectual disability diagnostic decision making resulted in fewer individuals being diagnosed with intellectual disability; however, the mean GAI of the disqualified individuals was at the upper end of criteria for intellectual impairment (standard score 75), and these individuals remained adaptively impaired. As GAI and FSIQ were similarly predictive of overall adaptive functioning, the use of GAI for intellectual disability diagnostic decision making may be of limited value. PMID:23859669

Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.

PubMed

Riecken, Lars Björn; Tawamie, Hasan; Dornblut, Carsten; Buchert, Rebecca; Ismayel, Amina; Schulz, Alexander; Schumacher, Johannes; Sticht, Heinrich; Pohl, Katja J; Cui, Yan; Reis, André; Morrison, Helen; Abou Jamra, Rami

2015-02-01

Gain-of-function alterations in several components and modulators of the Ras-MAPK pathway lead to dysregulation of the pathway and cause a broad spectrum of autosomal dominant developmental disorders, collectively known as RASopathies. These findings demonstrate the importance of tight multilevel Ras regulation to safeguard signaling output and prevent aberrant activity. We have recently identified ezrin as a novel regulatory element required for Ras activation. Homozygosity mapping and exome sequencing have now revealed the first presumably disease-causing variant in the coding gene EZR in two siblings with a profound intellectual disability. Localization and membrane targeting of the altered ezrin protein appeared normal but molecular modeling suggested protein interaction surfaces to be disturbed. Functional analysis revealed that the altered ezrin protein is no longer able to bind Ras and facilitate its activation. Furthermore, expression of the altered ezrin protein in different cell lines resulted in abnormal cellular processes, including reduced proliferation and neuritogenesis, thus revealing a possible mechanism for its phenotype in humans. To our knowledge, this is the first report of an autosomal recessively inherited loss-of-function mutation causing reduced Ras activity and thus extends and complements the pathogenicity spectrum of known Ras-MAPK pathway disturbances. © 2014 WILEY PERIODICALS, INC.

The Mental Health of British Adults with Intellectual Impairments Living in General Households

ERIC Educational Resources Information Center

Hatton, Chris; Emerson, Eric; Robertson, Janet; Baines, Susannah

2017-01-01

Background: People with intellectual disability or borderline intellectual functioning may have poorer mental health than their peers. The present authors sought to (i) estimate the risk of poorer mental health among British adults with and without intellectual impairments and (ii) estimate the extent to which any between-group differences in…

The Effect of Physical Training on Static Balance in Young People with Intellectual Disability

ERIC Educational Resources Information Center

Jankowicz-Szymanska, A.; Mikolajczyk, E.; Wojtanowski, W.

2012-01-01

Intellectual disability affects all spheres of people's lives who suffer from it. It lowers the level of intellectual functioning, often stigmatizes, characteristically changing features, and decreases motor performance. Unfortunately, modern medicine cannot cure intellectual disability; however, there is a chance to improve the quality of life of…

Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations

ERIC Educational Resources Information Center

Ansermet, Francois; Lespinasse, James; Gimelli, Stefania; Bena, Frederique; Paoloni-Giacobino, Ariane

2010-01-01

We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the…

Prevalence and Risk Factors of Constipation in Adults with Intellectual Disability in Residential Care Centers in Israel

ERIC Educational Resources Information Center

Morad, Mohammed; Nelson, Noele P.; Merrick, Joav; Davidson, Philip W.; Carmeli, Eli

2007-01-01

The normal aging process is not in itself a risk factor for constipation, but age-related morbidities, immobility, neurologic impairment or specific drugs are risk factors for constipation. This study was undertaken to examine the prevalence and risk factors for constipation in a large sample of 2400 persons with intellectual disability (ID) aged…

A Structured Physical Activity and Fitness Programme for Older Adults with Intellectual Disabilities: Results of a Cluster-Randomised Clinical Trial

ERIC Educational Resources Information Center

van Schijndel-Speet, M.; Evenhuis, H. M.; van Wijck, R.; van Montfort, K. C. A. G. M.; Echteld, M. A.

2017-01-01

Background: The physical activity level of older adults with intellectual disabilities (ID) is extremely low, and their fitness levels are far beneath accepted norms for older people with normal intelligence and comparable with frail older people. A physical activity programme, including an education programme, was developed for older adults with…

What Are Intellectual and Developmental Disabilities (IDDs)?

MedlinePlus

... characterized by problems with both: Intellectual functioning or intelligence, which include the ability to learn, reason, problem ... cord, and nervous system function, which can affect intelligence and learning. These conditions can also cause other ...

Pathobiology of Christianson Syndrome: Linking Disrupted Endosomal-Lysosomal Function with Intellectual Disability and Sensory Impairments.

PubMed

Kerner-Rossi, Mallory; Gulinello, Maria; Walkley, Steven; Dobrenis, Kostantin

2018-05-14

Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain. In addition, parental reports of sensory disturbances in their children with CS, including an apparent insensitivity to pain, led us to explore sensory function and related neuropathology in Slc9a6 KO mice. We present new data showing sensory deficits in Slc9a6 KO mice, which had reduced behavioral responses to noxious thermal and mechanical stimuli (Hargreaves and Von Frey assays, respectively) compared to wild type (WT) littermates. Immunohistochemical and ultrastructural analysis of the spinal cord and peripheral nervous system revealed intracellular accumulation of the glycosphingolipid GM2 ganglioside in KO but not WT mice. This cellular storage phenotype was most abundant in neurons of lamina I-II of the dorsal horn, a major relay site in the processing of painful stimuli. Spinal cords of KO mice also exhibited changes in astroglial and microglial populations throughout the gray matter suggestive of a neuroinflammatory process. Our findings establish the Slc9a6 KO mouse as a relevant tool for studying the sensory deficits in CS, and highlight selective vulnerabilities in relevant cell populations that may contribute to this phenotype. How NHE6 loss of function leads to such a multifaceted neurological syndrome is still undefined, and it is likely that NHE6 is involved with many cellular processes critical to normal nervous system development and function. In addition, the sensory issues exhibited by Slc9a6 KO mice, in combination with our neuropathological findings, are consistent with NHE6 loss of function impacting the entire nervous system. Sensory dysfunction in intellectually disabled individuals is challenging to assess and may impair patient safety and quality of life. Further mechanistic studies of the neurological impairments underlying CS and other genetic intellectual disability disorders must also take into account mechanisms affecting broader nervous system function in order to understand the full range of associated disabilities. Copyright © 2018. Published by Elsevier Inc.

Discovery of previously undetected intellectual disability by psychological assessment: a study of consecutively referred child and adolescent psychiatric inpatients.

PubMed

Pogge, David L; Stokes, John; Buccolo, Martin L; Pappalardo, Stephen; Harvey, Philip D

2014-07-01

Intellectual disability is associated with an increased risk of behavioral disturbances and also complicates their treatment. Despite increases in the sophistication of medical detection of early risk for intellectual disability, there is remarkably little data about the detection of intellectual disability in cases referred for psychiatric treatment. In this study, we used a 10-year sample of 23,629 consecutive child and adolescent admissions (ages between 6 and 17) to inpatient psychiatric treatment. Eleven percent (n=2621) of these cases were referred for psychological assessment and were examined with a general measure of intellectual functioning (i.e., WISC-IV). Of these cases, 16% had Full Scale IQs below 70. Of the cases whose therapists then referred them for formal assessment of their adaptive functioning (i.e., ABAS-II) 81% were found to have composite scores below 70 as well. Only one of the cases whose Full Scale IQ was less than 70 had a referral diagnosis of intellectual disability. Cases with previously undetected intellectual disability were found to be significantly more likely to have a diagnosis of a psychotic disorder and less likely to have a diagnosis of mood disorder than cases with IQs over 70. Disruptive behavior disorder diagnoses did not differ as a function of intellectual performance. These data suggest a high rate of undetected intellectual disability in cases with a psychiatric condition serious enough to require hospitalization and this raises the possibility that many such cases may be misdiagnosed, the basis of their problems may be misconceptualized, and they may be receiving treatments that do not take into account their intellectual level. Copyright © 2014 Elsevier Ltd. All rights reserved.

The evolving understanding of the construct of intellectual disability.

PubMed

Schalock, Robert L

2011-12-01

This article addresses two major areas concerned with the evolving understanding of the construct of intellectual disability. The first part of the article discusses current answers to five critical questions that have revolved around the general question, "What is Intellectual Disability?" These five are what to call the phenomenon, how to explain the phenomenon, how to define the phenomenon and determine who is a member of the class, how to classify persons so defined and identified, and how to establish public policy regarding such persons. The second part of the article discusses four critical issues that will impact both our future understanding of the construct and the approach taken to persons with intellectual disability. These four critical issues relate to the conceptualisation and measurement of intellectual functioning, the constitutive definition of intellectual disability, the alignment of clinical functions related to diagnosis, classification, and planning supports, and how the field resolves a number of emerging epistemological issues.

The effects of growth hormone deficiency and growth hormone replacement therapy on intellectual ability, personality and adjustment in children.

PubMed

Puga González, B; Ferrández Longás, A; Oyarzábal, M; Nosas, R

2010-06-01

Traditionally, it has been assumed that intellectual development in children with growth hormone deficiency (GHD) is distributed between ranges of a normal population based on the observation that it does not differ substantially from that of children of the same age. Nevertheless, few studies have investigated this assumption. This Spanish Collaborative study was prospectively planned with two main purposes: to study a possible influence of GHD on intelligence quotient (IQ), personality traits and adaptative capacity and to study the evolution of these parameters during substitution therapy with growth hormone (GH). Although the overall intellectual ability of children with GHD is comparable to that of a normal reference population, some areas such the motor-component scale (evaluated by McCarthy test) and performance IQ (evaluated by WISC-R) were below the mean at the beginning of the study, showing significant improvement during therapy. Emotional adjustment (normal at study start) also improved significantly during treatment. Females showed better adjustment capacity before and during GH therapy. Longer studies with an increased number of cases are needed to confirm these effects of GHD and its treatment in children.

Working Memory and Executive Function Profiles of Individuals with Borderline Intellectual Functioning

ERIC Educational Resources Information Center

Alloway, T. P.

2010-01-01

Background: The aim of the present study was to investigate the following issues: (1) Do students with borderline intellectual functioning have a pervasive pattern of impaired working memory skills across both verbal and visuo-spatial domains? (2) Is there evidence for impairment in executive function skills, and which tasks indicate greater…

Quantitative sensory testing of temperature, pain, and touch in adults with Down syndrome.

PubMed

de Knegt, Nanda; Defrin, Ruth; Schuengel, Carlo; Lobbezoo, Frank; Evenhuis, Heleen; Scherder, Erik

2015-12-01

The spinothalamic pathway mediates sensations of temperature, pain, and touch. These functions seem impaired in children with Down syndrome (DS), but have not been extensively examined in adults. The objective of the present study was to compare the spinothalamic-mediated sensory functions between adults with DS and adults from the general population and to examine in the DS group the relationship between the sensory functions and level of intellectual functioning. Quantitative sensory testing (QST) was performed in 188 adults with DS (mean age 37.5 years) and 142 age-matched control participants (median age 40.5 years). Temperature, pain, and touch were evaluated with tests for cold-warm discrimination, sharp-dull discrimination (pinprick), and tactile threshold, respectively. Level of intellectual functioning was estimated with the Social Functioning Scale for Intellectual Disability (intellectual disability level) and the Wechsler Preschool and Primary Scale of Intelligence--Revised (intelligence level). Overall, the difference in spinothalamic-mediated sensory functions between the DS and control groups was not statistically significant. However, DS participants with a lower intelligence level had a statistically significant lower performance on the sharp-dull discrimination test than DS participants with higher intelligence level (adjusted p=.006) and control participants (adjusted p=.017). It was concluded that intellectual functioning level is an important factor to take into account for the assessment of spinothalamic-mediated sensory functioning in adults with DS: a lower level could coincide with impaired sensory functioning, but could also hamper QST assessment. Copyright © 2015 Elsevier Ltd. All rights reserved.

Cognitive and Behavioral Characteristics of Children with Williams Syndrome: Implications for Intervention Approaches

PubMed Central

Mervis, Carolyn B.; John, Angela E.

2010-01-01

Portrayals of individuals with Williams syndrome (WS), a genetic disorder caused by a microdeletion of ~25 genes on chromosome 7q11.23, have reached the general public through a variety of media formats. These descriptions are often paradoxical in nature with individuals with WS repeatedly described as demonstrating near-normal language despite the presence of significant intellectual disability and as being extremely sociable and friendly in spite of their seemingly limited understanding of basic social norms. While this depiction of WS served to attract the interest of basic-science researchers, the results of subsequent studies have provided a more nuanced view. For example, rather than across-the-board “near-normal” language, children with WS demonstrate relative strengths in concrete vocabulary and verbal short-term memory, grammatical abilities at the level expected for general intellectual ability, and considerable weakness in relational/conceptual language and pragmatics (social use of language). To provide a more thorough characterization of the WS behavioral phenotype, we summarize recent findings related to intellectual ability, language development, memory development, executive function development, adaptive behavior skills, and behavior as it relates to learning by children with WS. Finally, we briefly discuss intervention approaches that may help children with WS to achieve their full potential. PMID:20425784

Adaptive behavior in young children with neurofibromatosis type 1.

PubMed

Klein-Tasman, Bonita P; Colon, Alina M; Brei, Natalie; van der Fluit, Faye; Casnar, Christina L; Janke, Kelly M; Basel, Donald; Siegel, Dawn H; Walker, Jasmine A

2013-01-01

Neurofibromatosis-1 is the most common single gene disorder affecting 1 in 3000. In children, it is associated not only with physical features but also with attention and learning problems. Research has identified a downward shift in intellectual functioning as well, but to date, there are no published studies about the everyday adaptive behavior of children with NF1. In this study, parental reports of adaptive behavior of 61 children with NF1 ages 3 through 8 were compared to an unaffected contrast group (n = 55) that comprised siblings and community members. Significant group differences in adaptive skills were evident and were largely related to group differences in intellectual functioning. In a subsample of children with average-range intellectual functioning, group differences in parent-reported motor skills were apparent even after controlling statistically for group differences in intellectual functioning. The implications of the findings for the care of children with NF1 are discussed.

Functional properties of behaviour problems depending on level of intellectual disability.

PubMed

Medeiros, K; Rojahn, J; Moore, L L; van Ingen, D J

2014-02-01

Behaviour problems are common among individuals with intellectual disabilities (ID) especially in those with more severe forms. The determination of the functional profile of a targeted behaviour has important implications for the design of customised behavioural interventions. We investigated the relationship between the level of ID and the functional profile of aggression, stereotypy and self-injurious behaviour (SIB) using the Questions about Behavioural Function (QABF). Two staff members at two time points completed the QABF for each of 115 adults with varying levels of ID participating in a day training and habilitation programme. Our results suggest that there is a differential relationship between the functions of behaviour problems and level of ID. While SIB is more often seen by raters to be maintained by escape of social demands and by attaining access to tangible items with the decline of the intellectual level, aggressive and stereotypic behaviours were identified more often as serving multiple functions equally across functioning level. © 2013 The Authors. Journal of Intellectual Disability Research © 2013 John Wiley & Sons Ltd, MENCAP & IASSIDD.

Neuropsychological Predictors of Everyday Functioning in Adults with Intellectual Disabilities

ERIC Educational Resources Information Center

Su, C. Y.; Chen, C. C.; Wuang, Y. P.; Lin, Y. H.; Wu, Y. Y.

2008-01-01

Background: Very little is known about the neuropsychological correlates of adaptive functioning in people with intellectual disabilities (ID). This study examined whether specific cognitive deficits and demographic variables predicted everyday functioning in adults with ID. Method: People with ID (n = 101; ages 19-41 years; mean education = 11…

A Comparison of Intellectual and Behavioral Functioning in Older Persons.

ERIC Educational Resources Information Center

Smith, Michael C.; Kramer, Nanette A.

In order to ascertain the extent to which older persons' levels of behavioral functioning parallel their levels of intellectual functioning, 42 female patients, aged 61-99, of an outpatient comprehensive care geriatric clinic, completed the Wechsler Adult Intelligence Scale (WAIS), the Instrumental Activities of Daily Living Scale (IADL), the…

Alleviating Parenting Stress in Parents with Intellectual Disabilities: A Randomized Controlled Trial of a Video-Feedback Intervention to Promote Positive Parenting

ERIC Educational Resources Information Center

Hodes, Marja W.; Meppelder, Marieke; Moor, Marleen; Kef, Sabina; Schuengel, Carlo

2017-01-01

Background: Adapted parenting support may alleviate the high levels of parenting stress experienced by many parents with intellectual disabilities. Methods: Parents with mild intellectual disabilities or borderline intellectual functioning were randomized to experimental (n = 43) and control (n = 42) conditions. Parents in both groups received…

Increasing Compliance in Students with Intellectual Disabilities Using Functional Behavioral Assessment and Self-Monitoring

ERIC Educational Resources Information Center

Wadsworth, Jamie P.; Hansen, Blake D.; Wills, Sarah B.

2015-01-01

Noncompliance in three elementary age students with intellectual disabilities was assessed using functional behavioral assessments. Escape was identified as the primary function of the behavior in all three students, and access to tangible items was identified in one of the students as a secondary function. Teacher-monitoring and self-monitoring…

Literacy achievement of children with intellectual disabilities and differing linguistic backgrounds.

PubMed

Verhoeven, L; Vermeer, A

2006-10-01

The aim of the present study was to examine the literacy achievement of 10- to 12-year-old native and non-native children with intellectual disabilities (ID) living in the Netherlands. An intriguing question within this context was whether the second language learning non-native children with ID would show a double disadvantage when compared with their monolingual Dutch peers with no ID. Dutch literacy scores in the domains of word decoding, vocabulary, syntax and text were therefore compared for: (1) intellectually disabled native Dutch children; (2) intellectually disabled non-native children; (3) normally developing native Dutch children; and (4) normally developing non-native children. The interrelations between literacy subskills were also compared for native vs. non-native children with ID. The native and non-native students diagnosed as intellectually disabled produced substantially lower literacy scores than their non-disabled peers. The differences between the native (L1) and non-native (L2) children in regular vs. special education were found to depend on the aspect of literacy considered. Word decoding and language skills turned out to significantly predict the children's reading comprehension, although some differences in the strength of relationships could also be evidenced. The literacy achievement of intellectually disabled children with differing linguistic backgrounds generally falls behind that of their non-disabled peers. For word decoding, the non-native children in regular and special education were generally able to keep up with their native peers. For higher-order literacy abilities closely related to the mental lexicon, sentence processing and text processing, however, significant differences in the performances of the native (L1) and non-native (L2) children in regular vs. special education were found, suggesting a double disadvantage for the non-native children in special education.

Relationship between periodontal status and intellectual function among community-dwelling elderly persons.

PubMed

Moriya, Shingo; Tei, Kanchu; Toyoshita, Yoshifumi; Koshino, Hisashi; Inoue, Nobuo; Miura, Hiroko

2012-06-01

The aim of this study was to indicate the relationship between periodontal status and intellectual function in the elderly. Periodontal status has been shown to be related to demographic, socioeconomic, and psychological status. Intellectual function is a significant indicator of health status. Nevertheless, the relationship between periodontal status and intellectual function has not been elucidated in detail among the elderly. A total of 152 community-dwelling elderly persons, aged 70-74 years, were enrolled in the study. Periodontal status was evaluated using the WHO Community Periodontal Index of Treatment Needs (CPITN). Intellectual function was assessed by four neuropsychological tests: Raven's Coloured Progressive Matrices (RCPM) test, the Verbal Paired Associates 1 (VerPA) task and the Visual Paired Associates 1 (VirPA) task, extracted from the Wechsler Memory Scale Revised Edition, and the Block Design subtest, extracted from the Wechsler Adult Intelligence Scales, Third Edition. Correlations between CPITN and each test were examined using Spearman rank correlation coefficients. The ordinal regression model was constructed with CPITN as the dependent variable and neuropsychological test as the principal independent variable to adjust for demographic factors, general health, lifestyle and oral health behaviour. Significant correlations were found between the RCPM test, the VerPA task, the Visual Paired Associates 1 and CPITN. In the ordinal regression model, CPITN was significantly related to measures of RCPM after adjusting for demographic factors, general health status, lifestyle and oral health behaviour. Intellectual function is considered a significant indicator of periodontal status among community-dwelling elderly persons. © 2011 The Gerodontology Society and John Wiley & Sons A/S.

The Relationship of Intellectual Functioning and Cognitive Performance to Brain Structure in Schizophrenia

PubMed Central

Wang, Lei; Gama, Clarissa S.; Barch, Deanna M.

2017-01-01

Abstract Background: Schizophrenia (SZ) is often characterized by cognitive and intellectual impairment. However, there is much heterogeneity across individuals, suggesting different trajectories of the illness. Recent findings have shown brain volume differences across subgroups of individuals with psychosis (SZ and bipolar disorder), such that those with intellectual and cognitive impairments presented evidence of early cerebral disruption, while those with cognitive but not intellectual impairments showed evidence of progressive brain abnormalities. Our aim was to investigate the relations of cognition and intellectual functioning with brain structure abnormalities in a sample of SZ compared to unaffected individuals. Methods: 92 individuals with SZ and 94 healthy controls part of the Northwestern University Schizophrenia Data and Software Tool (NUSDAST) underwent neuropsychological assessment and structural magnetic resonance imaging (MRI). Individuals with SZ were divided into subgroups according their estimated premorbid crystallized intellectual (ePMC-IQ) and cognitive performance. Brain volumes differences were investigated across groups. Results: SZ with ePMC-IQ and cognitive impairments had reduced total brain volume (TBV), intracranial volume (ICV), TBV corrected for ICV, and cortical gray matter volume, as well as reduced cortical thickness, and insula volumes. SZ with cognitive impairment but intact ePMC-IQ showed only reduced cortical gray matter volume and cortical thickness. Conclusions: These data provide additional evidence for heterogeneity in SZ. Impairments in cognition associated with reduced ePMC-IQ were related to evidence of broad brain structural alterations, including suggestion of early cerebral disruption. In contrast, impaired cognitive functioning in the context of more intact intellectual functioning was associated with cortical alterations that may reflect neurodegeneration. PMID:27369471

Are Non-Intellectually Disabled Black Youth with ASD Less Impaired on Parent Report than Their White Peers?

ERIC Educational Resources Information Center

Ratto, Allison B.; Anthony, Bruno J.; Kenworthy, Lauren; Armour, Anna Chelsea; Dudley, Katerina; Anthony, Laura Gutermuth

2016-01-01

There is a lack of research examining differences in functioning in autism spectrum disorder (ASD) across ethnicity, particularly among those without intellectual disability (ID). This study investigated ethnic differences in parent-reported impairment in executive function, adaptive behavior, and social-emotional functioning. White and Black…

Sleep Patterns in the Healthy Aged: Relationship with Intellectual Function

ERIC Educational Resources Information Center

Prinz, Patricia N.

1977-01-01

Sleep patterns of elderly subjects (N=12) differed from young adult levels. When sleep variables were compared with individual changes in intellectual function measured across the seventh through 10th decades of life, a positive correlation was found between time in REM sleep and several longitudinal measures of mental functioning. (Author)

Parent-child interaction over time in families of young children with borderline intellectual functioning.

PubMed

Fenning, Rachel M; Baker, Jason K; Baker, Bruce L; Crnic, Keith A

2014-06-01

A previous study suggested that mothers of 5-year-old children with borderline intellectual functioning displayed lower positive engagement with their children as compared with both mothers of typically developing children and mothers of children with significant developmental delays (Fenning, Baker, Baker, & Crnic, 2007). The current study integrated father data and followed these families over the subsequent 1-year period. Parent and child behavior were coded from naturalistic home observations at both waves. Results revealed that mothers of children with borderline intellectual functioning displayed a greater increase in negative-controlling parenting from child age 5 to 6 than did other mothers; fathers displayed more negative-controlling behavior in comparison to fathers of typically developing children. In addition, children with borderline intellectual functioning themselves exhibited a more significant escalation in difficult behavior than did typically developing children. Cross-lagged analyses for the sample as a whole indicated that maternal negative-controlling behavior predicted subsequent child difficulties, whereas negative paternal behavior was predicted by earlier child behavior. In conjunction with evidence from Fenning et al. (2007), these findings suggest a complex, dynamic, and systemic developmental pattern in the emotional behavior of families of children with borderline intellectual functioning. Implications and areas in need of additional research are discussed. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Tau and spectraplakins promote synapse formation and maintenance through Jun kinase and neuronal trafficking

PubMed Central

Voelzmann, Andre; Okenve-Ramos, Pilar; Qu, Yue; Chojnowska-Monga, Monika; del Caño-Espinel, Manuela; Prokop, Andreas; Sanchez-Soriano, Natalia

2016-01-01

The mechanisms regulating synapse numbers during development and ageing are essential for normal brain function and closely linked to brain disorders including dementias. Using Drosophila, we demonstrate roles of the microtubule-associated protein Tau in regulating synapse numbers, thus unravelling an important cellular requirement of normal Tau. In this context, we find that Tau displays a strong functional overlap with microtubule-binding spectraplakins, establishing new links between two different neurodegenerative factors. Tau and the spectraplakin Short Stop act upstream of a three-step regulatory cascade ensuring adequate delivery of synaptic proteins. This cascade involves microtubule stability as the initial trigger, JNK signalling as the central mediator, and kinesin-3 mediated axonal transport as the key effector. This cascade acts during development (synapse formation) and ageing (synapse maintenance) alike. Therefore, our findings suggest novel explanations for intellectual disability in Tau deficient individuals, as well as early synapse loss in dementias including Alzheimer’s disease. DOI: http://dx.doi.org/10.7554/eLife.14694.001 PMID:27501441

Intellectual Assessment of Children from Culturally Diverse Backgrounds.

ERIC Educational Resources Information Center

Armour-Thomas, Eleanor

1992-01-01

Examines assumptions and premises of standardized tests of mental ability and reviews extant theories and research on intellectual functioning of children from culturally different backgrounds. Discusses implications of these issues and perspectives for new directions for intellectual assessment for children from culturally different backgrounds.…

The Birth Order Puzzle.

ERIC Educational Resources Information Center

Zajonc, R. B.; And Others

1979-01-01

Discusses the controversy of the relationship between birth order and intellectual performance through a detailed evaluation of the confluence model which assumes that the rate of intellectual growth is a function of the intellectual environment within the family and associated with the special circumstances of last children. (CM)

Intellectual functioning in old and very old age: cross-sectional results from the Berlin Aging Study.

PubMed

Lindenberger, U; Baltes, P B

1997-09-01

This study documents age trends, interrelations, and correlates of intellectual abilities in old and very old age (70-103 years) from the Berlin Aging Study (N = 516). Fourteen tests were used to assess 5 abilities: reasoning, memory, and perceptual speed from the mechanic (broad fluid) domain and knowledge and fluency from the pragmatic (broad crystallized) domain. Intellectual abilities had negative linear age relations, with more pronounced age reductions in mechanic than in pragmatic abilities. Interrelations among intellectual abilities were highly positive and did not follow the mechanic-pragmatic distinction. Sociobiographical indicators were less closely linked to intellectual functioning than sensory-sensorimotor variables, which predicted 59% of the total reliable variance in general intelligence. Results suggest that aging-induced biological factors are a prominent source of individual differences in intelligence in old and very old age.

To what extent do joint attention, imitation, and object play behaviors in infancy predict later communication and intellectual functioning in ASD?

PubMed

Poon, Kenneth K; Watson, Linda R; Baranek, Grace T; Poe, Michele D

2012-06-01

The extent to which early social communication behaviors predict later communication and intellectual outcomes was investigated via retrospective video analysis. Joint attention, imitation, and complex object play behaviors were coded from edited home videos featuring scenes of 29 children with ASD at 9-12 and/or 15-18 months. A quantitative interval recording of behavior and a qualitative rating of the developmental level were applied. Social communication behaviors increased between 9-12 and 15-18 months. Their mean level during infancy, but not the rate of change, predicted both Vineland Communication scores and intellectual functioning at 3-7 years. The two methods of measurement yielded similar results. Thus, early social communicative behaviors may play pivotal roles in the development of subsequent communication and intellectual functioning.

Intellectual function evaluation of first generation immigrant children with sickle cell disease: the role of language and sociodemographic factors.

PubMed

Montanaro, Maria; Colombatti, Raffaella; Pugliese, Marisa; Migliozzi, Camilla; Zani, Fabiana; Guerzoni, Maria Elena; Manoli, Sheila; Manara, Renzo; Meneghetti, Giorgio; Rampazzo, Patrizia; Cavalleri, Francesca; Giordan, Marco; Paolucci, Paolo; Basso, Giuseppe; Palazzi, Giovanni; Sainati, Laura

2013-06-04

Sickle Cell Disease (SCD) is the most common genetic disease worldwide. Neurological events are among the most worrisome clinical complications of SCD and are frequently accompanied by cognitive impairment. Intellectual function in SCD may vary according to genetic and environmental factors. Immigrant children with SCD are increasing at a global level and display specific health care needs. The aim of our multicenter study was to describe the intellectual function of first generation African immigrants with SCD and the influence of sociodemographic factors on its characteristics. The Wechsler Intelligence Scales were administered to evaluate broad intellectual functions in children with SCD and in age-matched healthy siblings. Patients' clinical, socio-demographic, Magnetic Resonance Imaging (MRI) and Angiography (MRA) data were correlated to intellectual function scores. 68 children, mean age 8.95 years were evaluated. 72% spoke three languages, 21% two. FSIQ was <75 in 25% of the children. Mean VIQ was lower than PIQ in 75%. Mean verbal subtest scores were lower than performance scores. Female gender, number of languages spoken at home and mother's employment were associated with single subtest performances (p < 0.05). MRA was abnormal in 73.4% and MRI in 35.9%. No significant correlation was established between silent lesions and intellectual function, even if patients with lesions performed worse. Fifteen siblings performed better than patients on cognitive domains, including language (p < 0.05). Immigrant bilingual children with SCD seem to display a rate of cognitive impairment similar to their monolingual counterparts but a more pronounced and precocious onset of language difficulties. Adjunctive tests need to be considered in this group of patients to better define their specific deficits.

Relationship between gross motor and intellectual function in children with cerebral palsy: a cross-sectional study.

PubMed

Dalvand, Hamid; Dehghan, Leila; Hadian, Mohammad Reza; Feizy, Awat; Hosseini, Seyed Ali

2012-03-01

To explore the relationship between gross motor and intellectual function in children with cerebral palsy (CP). A cross-sectional study. Occupational therapy clinic. Children with CP (N=662; 281 girls, 381 boys; age range, 3-14y). Not applicable. Intelligence testing was carried out by means of the Wechsler Preschool and Primary Scale of Intelligence and the Wechsler Intelligence Scale for Children-Revised. Gross motor function level was determined by the Gross Motor Function Classification System Expanded and Revised (GMFCS E&R). Of the children, 10.4% were at level I of the GMFCS E&R, 38% at levels II and III, and 51.5% at levels IV and V. The lowest level of intelligence or profound intellectual disability was found in children with spastic quadriplegia (n=28, 62.2%). Children at the lowest levels (I-IV, GMFCS E&R) obtained higher ratings in terms of intelligence in comparison with children at level V. Based on the present results, the diagnosis was statistically related to the intellectual level as dependent variable (P<.01); accordingly, hypotonic, quadriplegic, and hemiplegic patients had the highest odds to assign higher ratings in abnormal intelligence, respectively. Sex and age were not statistically related to the dependent variable. The study results demonstrated a significant association between GMFCS E&R and intellectual function. Therefore, we suggest that particular attention should be paid to the intellectual level in terms of evaluations of gross motor function. These results, in respect, might be interested for occupational and physical therapists who are involved in rehabilitation programs for these children. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Children with congenital colorectal malformations often require special education or remedial teaching, despite normal intelligence.

PubMed

van den Hondel, Desiree; Aarsen, Femke K; Wijnen, Rene M H; Sloots, Cornelius E J; IJsselstijn, Hanneke

2016-02-01

This study prospectively evaluated neuropsychological functioning in 8-year-old patients with anorectal malformation (ARM) and Hirschsprung's disease (HD). School functioning and behaviour were assessed in a standardised interview. Intelligence, attention, self-esteem and quality of life were evaluated with validated tests and questionnaires. The following predictors were assessed: socio-economic status, number of episodes of general anaesthesia, laxative treatment and premature birth. Severely intellectually disabled patients were excluded. In total, twelve of the 23 (52%) patients with ARM and 11 (55%) of the 20 patients with HD received special education or remedial teaching. The intelligence quotient was normal: mean (standard deviation or SD) was 98 (17) and 96 (17), respectively. However, sustained attention was below the norm: mean (SD) Z-score was -1.90 (1.94) and -1.43 (1.98) for ARM and HD patients; both p < 0.01. Self-esteem was normal: mean (SD) Z-score was 0.10 (1.29) and -0.20 (1.11) for ARM and HD patients. Quality of life was normal in ARM patients and slightly impaired in HD patients. No predictors for neuropsychological outcome were identified. Despite normal intelligence, more than half of these patients received special education or remedial teaching. In addition, problems with sustained attention were found. These findings are important for long-term care. ©2015 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Family functioning, parenting stress and quality of life in mothers and fathers of Polish children with high functioning autism or Asperger syndrome

PubMed Central

2017-01-01

The aim of the study was to investigate the perception of the family functioning in parents of children with autism spectrum disorders (ASD) with normal-range intelligence and the relationships between family functioning, parenting stress and quality of life. Dyads of parents of children with ASD without intellectual disability and parents of typically developing children (controls) completed a set of self-report questionnaires. Parents of children with ASD reported lower functioning of the family as a whole and their own functioning as family members; they exhibited higher levels of parenting stress and lower quality of life. Mothers of children with ASD experienced more stress in personal domain than fathers. Relationships between family functioning, parenting stress and quality of life have been established. There were also moderate to strong correlations in mother-father dyads between their assessments of family functioning, parenting stress and QoL in social relationships and environmental domains. PMID:29036188

Family functioning, parenting stress and quality of life in mothers and fathers of Polish children with high functioning autism or Asperger syndrome.

PubMed

Pisula, Ewa; Porębowicz-Dörsmann, Anna

2017-01-01

The aim of the study was to investigate the perception of the family functioning in parents of children with autism spectrum disorders (ASD) with normal-range intelligence and the relationships between family functioning, parenting stress and quality of life. Dyads of parents of children with ASD without intellectual disability and parents of typically developing children (controls) completed a set of self-report questionnaires. Parents of children with ASD reported lower functioning of the family as a whole and their own functioning as family members; they exhibited higher levels of parenting stress and lower quality of life. Mothers of children with ASD experienced more stress in personal domain than fathers. Relationships between family functioning, parenting stress and quality of life have been established. There were also moderate to strong correlations in mother-father dyads between their assessments of family functioning, parenting stress and QoL in social relationships and environmental domains.

The Intellectual Climate of the Late Nineteenth Century and the Fate of American Normal Schools

ERIC Educational Resources Information Center

Diener, David

2008-01-01

In 1839 the first normal school in the United States opened in Lexington, Massachusetts. Heralded as "an instrument of great good" (Everett 1863, 769) and a spring in which was coiled "a vigor whose uncoiling may wheel the spheres" (Ogren 2005, 16), normal schools continued to grow in numbers throughout the nineteenth century and produced…

Psychometric Comparisons of Three Measures for Assessing Motor Functions in Preschoolers with Intellectual Disabilities

ERIC Educational Resources Information Center

Wuang, Y-P.; Su, C-Y.; Huang, M-H.

2012-01-01

Background: Deficit in motor performance is common in children with intellectual disabilities (ID). A motor function measure with sound psychometric properties is indispensable for clinical and research use. The purpose of this study was to compare the psychometric properties of three commonly used clinical measures for assessing motor function in…

Incorporating Functional Digital Literacy Skills as Part of the Curriculum for High School Students with Intellectual Disability

ERIC Educational Resources Information Center

Cihak, David F.; Wright, Rachel; Smith, Cate C.; McMahon, Don; Kraiss, Kelly

2015-01-01

The purpose of this study was to examine the effects of teaching functional digital literacy skills to three high school students with intellectual disability. Functional digital literacy skills included sending and receiving email messages, organizing social bookmarking to save, share, and access career websites, and accessing cloud storage to…

Oppositional Defiant Disorder in Children with Intellectual Disabilities

ERIC Educational Resources Information Center

Christensen, Lisa; Baker, Bruce L.; Blacher, Jan

2013-01-01

The study examines the epidemiology of oppositional defiant disorder (ODD) for children with intellectual disabilities (ID; n = 49), children with borderline intellectual functioning (BIF; n = 20), and typically developing children (TD; n = 115). The Diagnostic Interview Schedule for Children was administered to mothers at child ages 5, 6, 7, 8,…

Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil

PubMed Central

Pereira, Rodrigo Roncato; Pinto, Irene Plaza; Minasi, Lysa Bernardes; de Melo, Aldaires Vieira; da Cruz e Cunha, Damiana Mirian; Cruz, Alex Silva; Ribeiro, Cristiano Luiz; da Silva, Cláudio Carlos; de Melo e Silva, Daniela; da Cruz, Aparecido Divino

2014-01-01

Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies. PMID:25061755

Home environment, nutritional status and maternal intelligence as determinants of intellectual development in rural Philippine preschool children.

PubMed

Church, A T; Katigbak, M S

1991-01-01

Psychologists used 7 subtests based on Western intelligence tests but developed for rural preschoolers in Tagalog-speaking regions of the Philippines to estimate intelligence of 177 5-6 year old children in 4 agricultural villages in the provinces of Batangas and Oriental Mindoro. They also assessed the height for age, weight for age, and mid upper arm circumference of the children to determine nutritional status. They used 2 subtests from the Philippine Aptitude Classification Test to estimate the intelligence of 181 mothers and asked the mothers questions from the Environmental Interview Questionnaire to determine the status of the home environment. The psychologists hoped to examine the association between home environment, nutritional status, and intellectual development in these preschool children. A moderate association existed between home environment and intellectual development. It contributed more to child intellectual performance than did socioeconomic status and maternal intelligence. The physical and psychosocial environment also contributed to intellectual development. Maternal intelligence, a partial index of genetic influence, could not altogether explain the association between home environment and intellectual development. These results may identify environment experiences concerning environmental specificity such as exploration of the surrounding environment and spatial ability. Intellectual development was not significantly related to nutritional status in normal to moderately malnourished children.

The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder

PubMed Central

Munir, Kerim M.

2016-01-01

Purpose of review The study summarizes supportive epidemiological data regarding the true co-occurrence (comorbidity) and course of mental disorders in children with intellectual disability/intellectual developmental disorders (ID/IDD) across the lifespan. Recent findings Published studies involving representative populations of children and adolescents with ID/IDD have demonstrated a three to four-fold increase in prevalence of co-occurring mental disorders. The effect of age, sex, and severity (mild, moderate, severe, and profound) and socioeconomic status on prevalence is currently not clearly understood. To date there are no prevalence estimates of co-occurring mental disorders in youth identified using the new DSM-5 (and proposed ICD-11) definition of ID/IDD using measures of intellectual functions and deficits in adaptive functioning with various severity levels defined on the basis of adaptive functioning, and not intellectual quotient scores. Summary The true relationship between two forms of morbidity remains complex and causal relationships that may be true for one disorder may not apply to another. The new conceptualization of ID/IDD offers a developmentally better informed psychobiological approach that can help distinguish co-occurrence of mental disorders within the neurodevelopmental section with onset during the developmental period as well as the later onset of other mental disorders. PMID:26779862

The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder.

PubMed

Munir, Kerim M

2016-03-01

The study summarizes supportive epidemiological data regarding the true co-occurrence (comorbidity) and course of mental disorders in children with intellectual disability/intellectual developmental disorders (ID/IDD) across the lifespan. Published studies involving representative populations of children and adolescents with ID/IDD have demonstrated a three to four-fold increase in prevalence of co-occurring mental disorders. The effect of age, sex, and severity (mild, moderate, severe, and profound) and socioeconomic status on prevalence is currently not clearly understood. To date there are no prevalence estimates of co-occurring mental disorders in youth identified using the new DSM-5 (and proposed ICD-11) definition of ID/IDD using measures of intellectual functions and deficits in adaptive functioning with various severity levels defined on the basis of adaptive functioning, and not intellectual quotient scores. The true relationship between two forms of morbidity remains complex and causal relationships that may be true for one disorder may not apply to another. The new conceptualization of ID/IDD offers a developmentally better informed psychobiological approach that can help distinguish co-occurrence of mental disorders within the neurodevelopmental section with onset during the developmental period as well as the later onset of other mental disorders.

Cognition Predicts Quality of Life Among Patients With End-Stage Liver Disease.

PubMed

Paulson, Daniel; Shah, Mona; Miller-Matero, Lisa Renee; Eshelman, Anne; Abouljoud, Marwan

2016-01-01

Impaired cognitive functioning and poor quality of life (QoL) are both common among patients with end-stage liver disease; however, it is unclear how these are related. This study examines how specific cognitive domains predict QoL among liver transplant candidates by replicating Stewart and colleagues' (2010) 3-factor model of cognitive functioning, and determining how variability in these cognitive domains predicts mental health and physical QoL. The sample included 246 patients with end-stage liver disease who were candidates for liver transplant at a large, Midwestern health care center. Measures, including the Repeatable Battery for the Assessment of Neuropsychological Status, Trail Making Test, Shipley Institute of Living Scale, Short-Form Health Survey-36 Version 2, and Hospital Anxiety and Depression Scale, comprised latent variables representing global intellectual functioning, psychomotor speed, and learning and memory functioning. Confirmatory factor analysis results indicate that the 3-factor solution model comprised of global intellectual functioning, psychomotor speed, and learning and memory functioning fit the data well. Addition of physical and mental health QoL latent factors resulted in a structural model also with good fit. Results related physical QoL to global intellectual functioning, and mental health QoL to global intellectual functioning and psychomotor functioning. Findings elucidate a relationship between cognition and QoL and support the use of routine neuropsychological screening with end-stage liver disease patients, specifically examining the cognitive domains of global intellectual, psychomotor, and learning and memory functioning. Subsequently, screening results may inform implementation of targeted interventions to improve QoL. Copyright © 2016 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

Resistance to thyroid hormone due to defective thyroid receptor alpha.

PubMed

Moran, Carla; Chatterjee, Krishna

2015-08-01

Thyroid hormones act via nuclear receptors (TRα1, TRβ1, TRβ2) with differing tissue distribution; the role of α2 protein, derived from the same gene locus as TRα1, is unclear. Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with near-normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia (macrocephaly, epiphyseal dysgenesis), growth retardation, constipation, dyspraxia and intellectual deficit. Biochemical abnormalities include low/low-normal T4 and high/high-normal T3 concentrations, a subnormal T4/T3 ratio, variably reduced reverse T3, raised muscle creatine kinase and mild anaemia. The disorder is mediated by heterozygous, loss-of-function, mutations involving either TRα1 alone or both TRα1 and α2, with no discernible phenotype attributable to defective α2. Whole exome sequencing and diagnostic biomarkers may enable greater ascertainment of RTHα, which is important as thyroxine therapy reverses some metabolic abnormalities and improves growth, constipation, dyspraxia and wellbeing. The genetic and phenotypic heterogeneity of RTHα and its optimal management remain to be elucidated. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

GRASP1 regulates synaptic plasticity and learning through endosomal recycling of AMPA receptors

PubMed Central

Chiu, Shu-Ling; Diering, Graham Hugh; Ye, Bing; Takamiya, Kogo; Chen, Chih-Ming; Jiang, Yuwu; Niranjan, Tejasvi; Schwartz, Charles E.; Wang, Tao; Huganir, Richard L.

2017-01-01

Summary Learning depends on experience-dependent modification of synaptic efficacy and neuronal connectivity in the brain. We provide direct evidence for physiological roles of the recycling endosome protein GRASP1 in glutamatergic synapse function and animal behavior. Mice lacking GRASP1 showed abnormal excitatory synapse number, synaptic plasticity and hippocampal-dependent learning and memory due to a failure in learning-induced synaptic AMPAR incorporation. We identified two GRASP1 point mutations from intellectual disability (ID) patients that showed convergent disruptive effects on AMPAR recycling and glutamate uncaging-induced structural and functional plasticity. Wild-type GRASP1, but not ID mutants, rescues spine loss in hippocampal CA1 neurons of Grasp1 knockout mice. Together, these results demonstrate a requirement for normal recycling endosome function in AMPAR-dependent synaptic function and neuronal connectivity in vivo, and suggest a potential role for GRASP1 in the pathophysiology of human cognitive disorders. PMID:28285821

Aspects of Cognitive Functioning in Adults with Intellectual Disabilities

ERIC Educational Resources Information Center

Perkins, Elizabeth A.; Small, Brent J.

2006-01-01

Recently, more attention is being given to identifying aging-related and dementia-related pathological changes in performance and cognition among persons with intellectual disabilities (ID). This literature review examines age-related differences in specific aspects of cognitive functioning and cognitive performance of people with ID and…

Intellectual Functioning in Fragile X Syndrome School Children.

ERIC Educational Resources Information Center

Bromham, Susan; Jupp, James

1991-01-01

Aspects of intellectual function were investigated in a school age sample of 17 Fragile X individuals, employing the Wechsler Intelligence Scale for Children (Revised). The general ability of the sample was substantially below normative average because of the significantly poorer performance by males than females. (Author/DB)

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

PubMed

Battini, R; Chieffo, D; Bulgheroni, S; Piccini, G; Pecini, C; Lucibello, S; Lenzi, S; Moriconi, F; Pane, M; Astrea, G; Baranello, G; Alfieri, P; Vicari, S; Riva, D; Cioni, G; Mercuri, E

2018-02-01

The aim of our prospective observational study was to assess profiles of cognitive function and a possible impairment of executive functions in a cohort of boys with Duchenne muscular dystrophy without intellectual and behavior disability. Forty Duchenne boys (range of age: 6 years to 11 years and 6 months) were assessed by Wechsler Intelligence scale and battery of tests including tasks assessing working memory and executive functions (inhibition and switching, problem solving and planning). In our cohort some aspects of cognitive function were often impaired. These included multitasking, problem solving, inhibition and working memory necessary to plan and direct goal oriented behavior. Our results support the suggestion that aspects of cognitive function could be impaired even in boys without intellectual disability and support the hypothesis that executive functions may play an important role in specific aspects of cognitive impairment in Duchenne muscular dystrophy. Copyright © 2017 Elsevier B.V. All rights reserved.

Cognitive skill learning and schizophrenia: implications for cognitive remediation.

PubMed

Michel, L; Danion, J M; Grangé, D; Sandner, G

1998-10-01

The ability to acquire a motor and cognitive skill was investigated in 26 patients with schizophrenia and 26 normal participants using repeated testing on the Tower of Toronto puzzle. Seven patients with defective performance were retested using additional trials and immediate feedback designed to facilitate problem solving. A component analysis of performance was used based on J. R. Anderson's (1987) model of cognitive skill learning. Patients exhibited a performance deficit on both motor and cognitive skills. However, their acquisition rate was similar to that of normal participants on most parameters, indicating that skill learning suffered little or no impairment. Performance deficit was accounted for by poor problem-solving ability, explicit memory, and general intellectual capacities. It was remediable in some, but not all, patients. Remediation failure was also related to severe defects of cognitive functions.

Stereotypic movement disorder after acquired brain injury.

PubMed

McGrath, Cynthia M; Kennedy, Richard E; Hoye, Wayne; Yablon, Stuart A

2002-05-01

Stereotypic movement disorder (SMD) consists of repetitive, non-functional motor behaviour that interferes with daily living or causes injury to the person. It is most often described in patients with mental retardation. However, recent evidence indicates that this condition is common among otherwise normal individuals. This case study describes a patient with new-onset SMD occurring after subdural haematoma and brain injury. SMD has rarely been reported after acquired brain injury, and none have documented successful treatment. The current psychiatric literature regarding neurochemistry, neuroanatomy, and treatment of SMD are reviewed with particular application to one patient. Treatment options include serotonin re-uptake inhibitors, opioid antagonists and dopamine antagonists. SMD has been under-appreciated in intellectually normal individuals, and may also be unrecognized after brain injury. Further investigation is needed in this area, which may benefit other individuals with SMD as well.

Correlates of wellness among youth with functional disabilities.

PubMed

Menear, K S; Preskitt, J K; Goldfarb, S S; Menachemi, N

2015-04-01

The literature is more informative on the impediments to wellness among youth with functional limitations and less instructive on the state of wellness for this population. To explore overall wellness, and each sub-dimension of wellness, in a national sample of youth with functional limitations and to determine how demographic characteristics are associated with wellness. Using a previously validated screening instrument, we identify youth with functional limitations aged 12 to 17 represented in the 2011/12 National Survey of Children's Health. Survey items were coded to operationalize an overall wellness score comprised of four sub-dimensions of wellness (i.e., physical, intellectual, emotional, and social). The mean overall wellness score was 26.7 (out of 40) and had an approximate normal distribution. Mean raw scores for each sub-dimension were as follows: social = 2.79 (out of 4; 69.7%); emotional = 4.09 (out of 6; 68.2%); intellectual = 3.79 (out of 8; 47.4%); and physical = 6.30 (out of 8; 78.7%). Lower wellness scores were associated with older age among youth, increasing number of chronic health conditions, lower income, single mother homes, and youth whose mother reported fair or poor mental health status (all p < 0.05). Higher wellness scores were positively associated with mother's education (p < 0.001). Program planners should consider interventions that target youth with functional limitations shown to be at particular risk for lower overall wellness and promote family involvement and comprehensive supports, including maternal educational attainment, mental health screening, and referral. Copyright © 2015 Elsevier Inc. All rights reserved.

The hippocampo-amygdala control of contextual fear expression is affected in a model of intellectual disability.

PubMed

Zhang, Chun-Lei; Houbaert, Xander; Lepleux, Marilyn; Deshors, Melissa; Normand, Elisabeth; Gambino, Frédéric; Herzog, Etienne; Humeau, Yann

2015-11-01

The process of learning mainly depends on the ability to store new information, while the ability to retrieve this information and express appropriate behaviors are also crucial for the adaptation of individuals to environmental cues. Thereby, all three components contribute to the cognitive fitness of an individual. While a lack of behavioral adaptation is a recurrent trait of intellectually disabled patients, discriminating between memory formation, memory retrieval or behavioral expression deficits is not easy to establish. Here, we report some deficits in contextual fear behavior in knockout mice for the intellectual disability gene Il1rapl1. Functional in vivo experiments revealed that the lack of conditioned response resulted from a local inhibitory to excitatory (I/E) imbalance in basolateral amygdala (BLA) consecutive to a loss of excitatory drive onto BLA principal cells by caudal hippocampus axonal projections. A normalization of the fear behavior was obtained in adult mutant mice following opsin-based in vivo synaptic priming of hippocampo-BLA synapses in adult il1rapl1 knockout mice, indicating that synaptic efficacy at hippocampo-BLA projections is crucial for contextual fear memory expression. Importantly, because this restoration was obtained after the learning phase, our results suggest that some of the genetically encoded cognitive deficits in humans may originate from a lack of restitution of genuinely formed memories rather than an exclusive inability to store new memories.

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.

PubMed

von Renesse, Anja; Petkova, Mina V; Lützkendorf, Susanne; Heinemeyer, Jan; Gill, Esther; Hübner, Christoph; von Moers, Arpad; Stenzel, Werner; Schuelke, Markus

2014-04-01

Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated with brain malformations and eye defects. Presently, 16 proteins are known whose dysfunction impedes glycosylation of α-dystroglycan and leads to secondary dystroglycanopathy. To identify the cause of CMD with secondary merosin deficiency, hypomyelination and intellectual disability in two siblings from a consanguineous family. Autozygosity mapping followed by whole exome sequencing and immunochemistry were used to discover and verify a new genetic defect in two siblings with CMD. We identified a homozygous missense mutation (c.325C>T, p.Q109*) in protein O-mannosyl kinase (POMK) that encodes a glycosylation-specific kinase (SGK196) required for function of the dystroglycan complex. The protein was absent from skeletal muscle and skin fibroblasts of the patients. In patient muscle, β-dystroglycan was normally expressed at the sarcolemma, while α-dystroglycan failed to do so. Further, we detected co-localisation of POMK with desmin at the costameres in healthy muscle, and a substantial loss of desmin from the patient muscle. Homozygous truncating mutations in POMK lead to CMD with secondary merosin deficiency, hypomyelination and intellectual disability. Loss of desmin suggests that failure of proper α-dystroglycan glycosylation impedes the binding to extracellular matrix proteins and also affects the cytoskeleton.

Profiles and Cognitive Predictors of Motor Functions among Early School-Age Children with Mild Intellectual Disabilities

ERIC Educational Resources Information Center

Wuang, Y.-P.; Wang, C.-C.; Huang, M.-H.; Su, C.-Y.

2008-01-01

Background: The purpose of the study was to describe sensorimotor profile in children with mild intellectual disability (ID), and to examine the association between cognitive and motor function. Methods: A total of 233 children with mild ID aged 7 to 8 years were evaluated with measures of cognitive, motor and sensory integrative functioning.…

Association of Psychosocial Conditions, Oral Health, and Dietary Variety with Intellectual Activity in Older Community-Dwelling Japanese Adults.

PubMed

Tomioka, Kimiko; Okamoto, Nozomi; Kurumatani, Norio; Hosoi, Hiroshi

2015-01-01

This study examined the factors related to intellectual activity in community-dwelling elderly persons. Self-administered questionnaires mailed to all people aged ≥65 years in a dormitory suburb in Japan (n = 15,210). The response rate was 72.2%. Analytical subjects (n = 8,910) were those who lived independently and completely answered questions about independent and dependent variables and covariates. Independent variables included psychosocial conditions (i.e., social activities, hobbies, and a sense that life is worth living (ikigai)), oral health (i.e., dental health behaviors and oral function evaluated by chewing difficulties, swallowing difficulties, and oral dryness), and dietary variety measured using the dietary variety score (DVS). A dependent variable was intellectual activity measured using the Tokyo Metropolitan Institute of Gerontology Index of Competence. Covariates included age, gender, family structure, pensions, body mass index, alcohol, smoking, medical history, self-rated health, medications, cognitive function, depression, and falling. Logistic regression was used to estimate the odds ratio (OR) for poor intellectual activity. Poor intellectual activity was reported by 28.9% of the study population. After adjustment for covariates and independent variables, poor intellectual activity was significantly associated with nonparticipation in social activities (OR = 1.90, 95%CI = 1.61-2.24), having neither hobbies nor ikigai (3.13, 2.55-3.84), having neither regular dental visits nor daily brushing (1.70, 1.35-2.14), the poorest oral function (1.61, 1.31-1.98), and the lowest DVS quartile (1.96, 1.70-2.26). These results indicate that psychosocial conditions, oral health, and dietary variety are independently associated with intellectual activity in elderly persons. The factors identified in this study may be used in community health programs for maintaining the intellectual activity ability of the elderly.

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

PubMed

Parente, Daniel J; Garriga, Caryn; Baskin, Berivan; Douglas, Ganka; Cho, Megan T; Araujo, Gabriel C; Shinawi, Marwan

2017-01-01

Neuroligins are post-synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic signaling and is crucial for maintaining the excitation-inhibition balance in the brain. Disruption of the excitation-inhibition balance is associated with neuropsychiatric disease. In animal models, altered NLGN2 expression causes anxiety, developmental delay, motor discoordination, social impairment, aggression, and sensory processing defects. In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia. Copy number variants encompassing NLGN2 on 17p13.1 are associated with autism, intellectual disability, metabolic syndrome, diabetes, and dysmorphic features, but an isolated NLGN2 nonsense variant has not yet been described in humans. Here, we describe a 15-year-old male with severe anxiety, obsessive-compulsive behaviors, developmental delay, autism, obesity, macrocephaly, and some dysmorphic features. Exome sequencing identified a heterozygous, de novo, c.441C>A p.(Tyr147Ter) variant in NLGN2 that is predicted to cause loss of normal protein function. This is the first report of an NLGN2 nonsense variant in humans, adding to the accumulating evidence that links synaptic proteins with a spectrum of neurodevelopmental phenotypes. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Intellectual development in Noonan syndrome: a longitudinal study.

PubMed

Roelofs, Renée L; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P C; Egger, Jos I M

2016-07-01

Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, attention, and executive functioning. This longitudinal study is the first to investigate intellectual development in a group of individuals with Noonan syndrome. Sixteen patients with Noonan syndrome underwent intelligence assessment both in childhood and in adulthood, using Wechsler's intelligence scales. IQ scores and Wechsler standard scores achieved in childhood and adulthood were compared. Subsequently, verbal and performance IQ in childhood were used as predictors for adult IQ and index scores. Compared with childhood scores, adult full-scale IQ and performance IQ significantly increased. Adult performance IQ was higher than verbal IQ. Childhood performance IQ and verbal IQ together predicted all adult IQ and index scores, except for the processing speed index. Childhood IQ was a significant predictor of adult intelligence in patients with Noonan syndrome. Performance IQ advanced to a normal level in adulthood, while verbal IQ did not develop proportionately, resulting in a discrepancy between adult performance IQ and verbal IQ. This finding could suggest a delay in the development of executive functioning in patients with Noonan syndrome, which seems to be outgrown in adulthood.

High-expanding cortical regions in human development and evolution are related to higher intellectual abilities.

PubMed

Fjell, Anders M; Westlye, Lars T; Amlien, Inge; Tamnes, Christian K; Grydeland, Håkon; Engvig, Andreas; Espeseth, Thomas; Reinvang, Ivar; Lundervold, Astri J; Lundervold, Arvid; Walhovd, Kristine B

2015-01-01

Cortical surface area has tremendously expanded during human evolution, and similar patterns of cortical expansion have been observed during childhood development. An intriguing hypothesis is that the high-expanding cortical regions also show the strongest correlations with intellectual function in humans. However, we do not know how the regional distribution of correlations between intellectual function and cortical area maps onto expansion in development and evolution. Here, in a sample of 1048 participants, we show that regions in which cortical area correlates with visuospatial reasoning abilities are generally high expanding in both development and evolution. Several regions in the frontal cortex, especially the anterior cingulate, showed high expansion in both development and evolution. The area of these regions was related to intellectual functions in humans. Low-expanding areas were not related to cognitive scores. These findings suggest that cortical regions involved in higher intellectual functions have expanded the most during development and evolution. The radial unit hypothesis provides a common framework for interpretation of the findings in the context of evolution and prenatal development, while additional cellular mechanisms, such as synaptogenesis, gliogenesis, dendritic arborization, and intracortical myelination, likely impact area expansion in later childhood. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

The Relationship between the Severity of Eating Problems and Intellectual Developmental Deficit Level

ERIC Educational Resources Information Center

Gal, Eynat; Hardal-Nasser, Reem; Engel-Yeger, Batya

2011-01-01

Nutrition, essential in the daily living functions promoting life quality of persons with intellectual developmental deficits (IDD), is adversely affected by the highly prevalent eating problems in these persons. The current study explores the characteristics of eating problems in population of children with intellectual developmental disorders.…

A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.

PubMed

Zhou, Shaohe; Shi, Zhangyan; Cui, Meng; Li, Junlin; Ma, Zhe; Shi, Yuanyu; Zheng, Zijian; Zhang, Fuchang; Jin, Tianbo; Geng, Tingting; Chen, Chao; Guo, Yale; Zhou, Jianping; Huang, Shaoping; Guo, Xingli; Gao, Lin; Gong, Pingyuan; Gao, Xiaocai; Zhang, Kejin

2015-01-01

Non-syndromic intellectual disability (NSID) is mental retardation in persons of normal physical appearance who have no recognisable features apart from obvious deficits in intellectual functioning and adaptive ability; however, its genetic etiology of most patients has remained unknown. The main purpose of this study was to fine map and identify specific causal gene(s) by genotyping a NSID family cohort using a panel of markers encompassing a target region reported in a previous work. A total of 139 families including probands, parents and relatives were included in the household survey, clinical examinations and intelligence tests, recruited from the Qinba mountain region of Shannxi province, western China. A collection of 34 tagged single nucleotide polymorphisms (tSNPs) spanning five microsatellite marker (STR) loci were genotyped using an iPLEX Gold assay. The association between tSNPs and patients was analyzed by family-based association testing (FBAT) and haplotype analysis (HBAT). Four markers (rs5974392, rs12164331, rs5929554 and rs3116911) in a block that showed strong linkage disequilibrium within the first three introns of the LOC101928437 locus were found to be significantly associated with NSID (all P<0.01) by the FBAT method for a single marker in additive, dominant and recessive models. The results of haplotype tests of this block also revealed a significant association with NSID (all P<0.05) using 2-window and larger HBAT analyses. These results suggest that LOC101928437 is a novel candidate gene for NSID in Han Chinese individuals of the Qinba region of China. Although the biological function of the gene has not been well studied, knowledge about this gene will provide insights that will increase our understanding of NSID development.

Estimated Full Scale IQ in an Adult Heroin Addict Population.

ERIC Educational Resources Information Center

Chastain, Robert L.; And Others

The research concerning intellectual functioning in addict populations has not addressed basic questions concerning why and how intelligence quotients (IQ) might be related to drug addiction. A study was undertaken to estimate intellectual functioning based upon a demographic profile for Wechsler Adult Intelligence Scale-Revised (WAIS-R) Full…

Borderline Intellectual Functioning: A Systematic Literature Review

ERIC Educational Resources Information Center

Peltopuro, Minna; Ahonen, Timo; Kaartinen, Jukka; Seppälä, Heikki; Närhi, Vesa

2014-01-01

The literature related to people with borderline intellectual functioning (BIF) was systematically reviewed in order to summarize the present knowledge. Database searches yielded 1,726 citations, and 49 studies were included in the review. People with BIF face a variety of hardships in life, including neurocognitive, social, and mental health…

Intellectual and Adaptive Behaviour Functioning in Pantothenate Kinase-Associated Neurodegeneration

ERIC Educational Resources Information Center

Freeman, K.; Gregory, A.; Turner, A.; Blasco, P.; Hogarth, P.; Hayflick, S.

2007-01-01

Background: Pantothenate kinase-associated neurodegeneration (PKAN), an extremely rare autosomal recessive disorder resulting in iron accumulation in the brain, has a diverse phenotypic expression. Based on limited case studies of one or two patients, intellectual impairment is considered part of PKAN. Investigations of cognitive functioning have…

Psychological and School Functioning of Latino Siblings of Children with Intellectual Disability

ERIC Educational Resources Information Center

Lobato, Debra; Kao, Barbara; Plante, Wendy; Seifer, Ronald; Grullon, Edicta; Cheas, Lydia; Canino, Glorisa

2011-01-01

Background: Siblings of children with disabilities are at risk for internalizing psychological disorders; however, little is known about how culture influences this effect. This study examined the psychological and school functioning of Latino siblings of children with intellectual disability (ID). Methods: Participants were 100 Latino (L) and…

38 CFR 3.815 - Monetary allowance under 38 U.S.C. chapter 18 for an individual with disability from covered...

Code of Federal Regulations, 2010 CFR

2010-07-01

... communication, behavior, social interaction, and intellectual functioning are appropriate for age; or (B) The... difficulty; (C) The individual's communication, behavior, social interaction, and intellectual functioning..., grooming, and carrying out personal hygiene; (B) The individual's communication, behavior, social...

34 CFR 668.231 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-07-01

... intellectual disability means a student— (1) With mental retardation or a cognitive impairment characterized by significant limitations in— (i) Intellectual and cognitive functioning; and (ii) Adaptive behavior as...

34 CFR 668.231 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-07-01

... intellectual disability means a student— (1) With mental retardation or a cognitive impairment characterized by significant limitations in— (i) Intellectual and cognitive functioning; and (ii) Adaptive behavior as...

34 CFR 668.231 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-07-01

... intellectual disability means a student— (1) With mental retardation or a cognitive impairment characterized by significant limitations in— (i) Intellectual and cognitive functioning; and (ii) Adaptive behavior as...

Health- and vision-related quality of life in intellectually disabled children.

PubMed

Cui, Yu; Stapleton, Fiona; Suttle, Catherine; Bundy, Anita

2010-01-01

To investigate the psychometric properties of instruments for the assessment of self-reported functional vision performance and health-related quality of life in children with intellectual disabilities (IDs). Two instruments [Autoquestionnaire Enfant Image (AUQUEI), LV Prasad-Functional Vision Questionnaire (LVP-FVQ)] designed for the assessment of functional vision and health-related quality of life were adapted and administered to 168 school children with ID, aged 8 to 18 years. Rasch analysis was used to determine the appropriateness of the rating scales of these instruments and to identify any redundant items. Redundant items were excluded based on descriptive statistics and Rasch analysis, leaving 17 of 23 items in the revised AUQUEI and 16 of 22 in the LVP-FVQ. The AUQUEI items showed disordered thresholds on the rating scale. A modified step calibration (collapsed from four categories to three categories) resulted in ordered response thresholds for all items. The adjusted instrument produced an overall fit to the model (mean item infit = 1.06, SD = 0.32; mean item outfit = 1.11, SD = 0.35), indicating good construct validity. After Rasch analysis, the AUQUEI showed good content validity (person separation = 2.18; item reliability = 0.99; Cronbach alpha = 0.89). Increased similarity of person and item means and SDs on the logit scale after modification would indicate that the instrument was more applicable to the target population in its modified form. In contrast, the LVP-FVQ had a low person separation (1.35), suggesting that a more appropriate instrument is needed for assessment of vision-related quality of life in children with ID. The psychometric properties of two instruments were explored using Rasch analysis. By rescaling and reduction of items, the instruments were modified for use in a population of children with at least mild to moderate ID. However, an alternative instrument is needed for the assessment of vision-related quality of life in intellectually disabled children with normal vision or mild visual abnormalities.

A Brief Assessment of Intelligence Decline in Schizophrenia As Represented by the Difference between Current and Premorbid Intellectual Quotient

PubMed Central

Ohi, Kazutaka; Sumiyoshi, Chika; Fujino, Haruo; Yasuda, Yuka; Yamamori, Hidenaga; Fujimoto, Michiko; Sumiyoshi, Tomiki; Hashimoto, Ryota

2017-01-01

Patients with schizophrenia elicit several clinical features, such as psychotic symptoms, cognitive impairment, and subtle decline of intelligence. The latter two features become evident around the onset of the illness, although they may exist even before the disease onset in a substantial proportion of cases. Here, we review the literature concerning intelligence decline (ID) during the progression of schizophrenia. ID can be estimated by comparing premorbid and current intellectual quotient (IQ) by means of the Adult Reading Test and Wechsler Adult Intelligence Scale (WAIS), respectively. For the purpose of brief assessment, we have recently developed the WAIS-Short Form, which consists of Similarities and Symbol Search and well reflects functional outcomes. According to the degree of ID, patients were classified into three distinct subgroups; deteriorated, preserved, and compromised groups. Patients who show deteriorated IQ (deteriorated group) elicit ID from a premorbid level (≥10-point difference between current and premorbid IQ), while patients who show preserved or compromised IQ do not show such decline (<10-point difference). Furthermore, the latter patients were divided into patients with preserved and compromised IQ based on an estimated premorbid IQ score >90 or below 90, respectively. We have recently shown the distribution of ID in a large cohort of schizophrenia patients. Consistent with previous studies, approximately 30% of schizophrenia patients had a decline of less than 10 points, i.e., normal intellectual performance. In contrast, approximately 70% of patients showed deterioration of IQ. These results indicate that there is a subgroup of schizophrenia patients who have mild or minimal intellectual deficits, following the onset of the disorder. Therefore, a careful assessment of ID is important in identifying appropriate interventions, including medications, cognitive remediation, and social/community services. PMID:29312019

‘It’s my home and your work’: the views of a filmed vignette describing a challenging everyday situation from the perspective of people with intellectual disabilities

PubMed Central

Hellzen, Ove; Haugenes, Marit; Østby, May

2018-01-01

ABSTRACT Purpose: Examining everyday challenges in the interactions between people with intellectual disabilities and their staff, as seen from the user’s perspective, is an important perspective in health care research. Involving people with intellectual disabilities as so-called co-researchers is a relatively unexplored research strategy. In this paper, co-researchers participated in all the steps of the research process, from planning to reporting, in addition to the written reporting of the findings. The aim of this study was to explore how people with intellectual disabilities experienced a filmed vignette of an everyday situation. Method: Based on audio-recorded and transcribed individual and focus-group interviews with people with intellectual disabilities, performed by co-researchers with intellectual disabilities together with researchers, qualitative content analysis was used. Results: The analysis reveals three themes: “being emotionally touched”, “being aware of the other”, and “being unclear”. Conclusions: The results are discussed in light of normalization and participation in society with independence and one’s own decision-making. Regarding the care of people with intellectual disabilities, the main finding is the need to focus not only on greater involvement of this population in their own daily lives, but also to teach self-determination skills. Another finding is the importance of involving people with intellectual impairment as co-researchers. PMID:29733261

Cognitive and academic functioning of juvenile detainees: implications for correctional populations and public health.

PubMed

Lansing, Amy E; Washburn, Jason J; Abram, Karen M; Thomas, Ursula C; Welty, Leah J; Teplin, Linda A

2014-01-01

Cognitive functioning affects health. This study assessed cognitive functioning among participants in the Northwestern Juvenile Project, a stratified random sample of 1,829 newly detained juveniles (10 to 18 years old) from Cook County, Illinois. The study examined receptive vocabulary, oral reading, arithmetic computation skills, and general intellectual abilities. The sample exhibited impaired overall intellectual functioning and deficits in all areas. Males performed more poorly than females. More than three quarters of males showed below average overall intellectual functioning, and 9 in 10 had below average receptive vocabulary skills. Hispanic and African American males performed more poorly than non-Hispanic White males. The multiple systems that serve delinquent youth--correctional, health, legal, and rehabilitative--must collaborate to tailor needed services to the cognitive level of youth in the juvenile justice system.

Cognitive and academic functioning of juvenile detainees: Implications for correctional populations and public health

PubMed Central

Lansing, Amy E.; Washburn, Jason J.; Abram, Karen M.; Thomas, Ursula C.; Welty, Leah J.; Teplin, Linda A.

2014-01-01

Cognitive functioning affects health. This study assessed cognitive functioning among participants in the Northwestern Juvenile Project, a stratified random sample of 1,829 newly detained juveniles (10-18 years old) from Cook County, Illinois. We examined receptive vocabulary, oral reading, arithmetic computation skills, and general intellectual abilities. Our sample exhibited impaired overall intellectual functioning and deficits in all areas. Males performed more poorly than females overall. More than three-quarters of males showed below average overall intellectual functioning, and nine in ten males had below average receptive vocabulary skills. Hispanic and African American males performed more poorly than non-Hispanic white males; The multiple systems that serve delinquent youth—correctional, health, legal, and rehabilitative—must collaborate to tailor needed services to the cognitive level of youth in the juvenile justice system. PMID:24352405

BOD1 Is Required for Cognitive Function in Humans and Drosophila

PubMed Central

Motazacker, M. Mahdi; Nijhof, Bonnie; Castells-Nobau, Anna; Asztalos, Zoltan; Weißmann, Robert; Behjati, Farkhondeh; Tzschach, Andreas; Felbor, Ute; Scherthan, Harry; Sayfati, Seyed Morteza; Ropers, H. Hilger.; Kahrizi, Kimia; Najmabadi, Hossein; Swedlow, Jason R.; Schenck, Annette; Kuss, Andreas W.

2016-01-01

Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chromosome segregation, regulating phosphorylation of PLK1 substrates by modulating Protein Phosphatase 2A (PP2A) activity during mitosis. We report that fibroblast cell lines derived from homozygous BOD1 mutation carriers show aberrant localisation of the cell cycle kinase PLK1 and its phosphatase PP2A at mitotic kinetochores. However, in contrast to the mitotic arrest observed in BOD1-siRNA treated HeLa cells, patient-derived cells progressed through mitosis with no apparent segregation defects but at an accelerated rate compared to controls. The relatively normal cell cycle progression observed in cultured cells is in line with the absence of gross structural brain abnormalities in the affected individuals. Moreover, we found that in normal adult brain tissues BOD1 expression is maintained at considerable levels, in contrast to PLK1 expression, and provide evidence for synaptic localization of Bod1 in murine neurons. These observations suggest that BOD1 plays a cell cycle-independent role in the nervous system. To address this possibility, we established two Drosophila models, where neuron-specific knockdown of BOD1 caused pronounced learning deficits and significant abnormalities in synapse morphology. Together our results reveal novel postmitotic functions of BOD1 as well as pathogenic mechanisms that strongly support a causative role of BOD1 deficiency in the aetiology of intellectual disability. Moreover, by demonstrating its requirement for cognitive function in humans and Drosophila we provide evidence for a conserved role of BOD1 in the development and maintenance of cognitive features. PMID:27166630

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

PubMed Central

Nguyen, LS; Jolly, L; Shoubridge, C; Chan, WK; Huang, L; Laumonnier, F; Raynaud, M; Hackett, A; Field, M; Rodriguez, J; Srivastava, AK; Lee, Y; Long, R; Addington, AM; Rapoport, JL; Suren, S; Hahn, CN; Gamble, J; Wilkinson, MF; Corbett, MA; Gecz, J

2014-01-01

The nonsense-mediated mRNA decay (NMD) pathway was originally discovered by virtue of its ability to rapidly degrade aberrant mRNAs with premature termination codons. More recently, it was shown that NMD also directly regulates subsets of normal transcripts, suggesting that NMD has roles in normal biological processes. Indeed, several NMD factors have been shown to regulate neurological events (for example, neurogenesis and synaptic plasticity) in numerous vertebrate species. In man, mutations in the NMD factor gene UPF3B, which disrupts a branch of the NMD pathway, cause various forms of intellectual disability (ID). Using Epstein Barr virus—immortalized B cells, also known as lymphoblastoid cell lines (LCLs), from ID patients that have loss-of-function mutations in UPF3B, we investigated the genome-wide consequences of compromised NMD and the role of NMD in neuronal development and function. We found that ~5% of the human transcriptome is impacted in UPF3B patients. The UPF3B paralog, UPF3A, is stabilized in all UPF3B patients, and partially compensates for the loss of UPF3B function. Interestingly, UPF3A protein, but not mRNA, was stabilised in a quantitative manner that inversely correlated with the severity of patients’ phenotype. This suggested that the ability to stabilize the UPF3A protein is a crucial modifier of the neurological symptoms due to loss of UPF3B. We also identified ARHGAP24, which encodes a GTPase-activating protein, as a canonical target of NMD, and we provide evidence that deregulation of this gene inhibits axon and dendrite outgrowth and branching. Our results demonstrate that the UPF3B-dependent NMD pathway is a major regulator of the transcriptome and that its targets have important roles in neuronal cells. PMID:22182939

Impact of resective epilepsy surgery on health-related quality of life in children with and without low intellectual ability.

PubMed

Conway, Lauryn; Widjaja, Elysa; Smith, Mary Lou

2018-06-01

The current study examined pre- and postoperative health-related quality of life (HRQL) across children with and without low intellectual ability. We also aimed to clarify the literature on postsurgical change by assessing domain-specific HRQL pre- and postoperatively in children with drug-resistant epilepsy. All patients (n=111) underwent resective epilepsy surgery between 1996 and 2016 at the Hospital for Sick Children in Toronto, comparing baseline and 1-year follow-up HRQL with the Quality of Life in Childhood Epilepsy Questionnaire (QOLCE-76). At the group-level, postsurgical change in HRQL was examined through linear mixed-effects modeling. Clinically important change in HRQL at the individual level was quantified using a standard error of measurement (SEM)-based criterion, and estimates were stratified by intellectual ability. Children with epilepsy and low intellectual ability had lower overall HRQL compared with those with normal intelligence (b=-10.45, SE=4.89, p=.035). No differences in change in HRQL related to intellectual level were found. In the broader sample, significant postoperative improvements were found for HRQL related to physical activity (b=8.28, SE=1.79, p<.001), social activity (b=15.81, SE=2.76, p<.001), and behavior (b=4.34, SE=1.35, p=.001). Postoperative improvements in physical and social HRQL were associated with better seizure control (p=.011). Conversely, cognitive and emotional domains of HRQL did not improve one year postoperatively, even in the presence of improved seizure control. Results suggest that children with low intellectual ability can expect to achieve similar improvements in HRQL after epilepsy surgery compared with those with normal intelligence. Further, while overall HRQL is shown to improve in children following epilepsy surgery, domain-specific change is nuanced and has important implications for health practitioners aiming to monitor treatment progress of patients. Copyright © 2018 Elsevier Inc. All rights reserved.

[Psychoeducational intervention in high ability: intellectual functioning and extracurricular enrichment].

PubMed

Sastre-Riba, Sylvia

2014-02-24

The 'new paradigm' defines the high intellectual ability as a potential that should crystallize progressively throughout development. Its main feature is a high intellectual initial multidimensional potential, which is transformed so that, being a person with high intellectual ability is the result of a developmental process from a neurobiological substrate and the incidence of variables (psychosocial and education) which determines its manifestation more or less stable and optimal to excellence. It is interesting to know the effectiveness of psychoeducational intervention of the extracurricular enrichment programs and their effects on the expression of differential functioning and the optimization of the management of cognitive resources that lead to excellence. An extracurricular enrichment program is described and evaluated through: 1) the stability of the intellectual measures; 2) the satisfaction level of participants and families. Participants are 58 high ability students on the enrichment program and 25 parents. Intellectual profiles are obtained on T1-T2 and calculated their stability by regression analysis, the CSA and CSA-P questionnaires were applied in order to know the participants and families' satisfaction measure. Results show the basic stability of intellectual profiles with five cases of instability among the 58 profiles obtained, and a high satisfaction with the results obtained in the domain of cognitive and personal management among the participants.

Agreement in Quality of Life Assessment between Adolescents with Intellectual Disability and Their Parents

ERIC Educational Resources Information Center

Golubovic, Spela; Skrbic, Renata

2013-01-01

Intellectual disability affects different aspects of functioning and quality of life, as well as the ability to independently assess the quality of life itself. The paper examines the agreement in the quality of life assessments made by adolescents with intellectual disability and their parents compared with assessments made by adolescents without…

Model of Intellectual Disability and the Relationship of Attitudes Towards the Sexuality of Persons with an Intellectual Disability.

PubMed

Parchomiuk, Monika

2013-06-01

The following article discusses the relationship between the model of intellectual disability and the attitudes towards sexuality of people with disabilities. This correlation has been verified during the author's own research conducted on students of several medical faculties such as nursing, public health, emergency medical services and physiotherapy. Tools of the author's design have been used in the research. Likert-type scale "Perspective of intellectual disability" has been used to determine the model of disability seen from the medical (individual) or social perspective. To examine the attitudes towards sexuality two tools of the author's own design have been used: a Likert-type scale "The essence of sexuality in persons with an intellectual disability" which has been used to analyze the cognitive aspect of the attitudes, and a semantic differential with notions concerning physical and psychosocial aspects of sexuality including the affective-evaluative aspect. As expected, significant correlations have been found between the model and the attitudes both in the cognitive and the affective-evaluative aspect. Higher scores for the individual model correlated with: (a) lover scores for most aspects of sexuality of people with intellectual disability, (b) perceiving them as asexual, (c) biological determinism in the sexual sphere. The social model concurred with positive values given to sexuality of people with intellectual disability and its normalization in the sphere of its determinants and symptoms.

Intellectual Ability, Self-Perceived Social Competence, and Depressive Symptomatology in Children with High-Functioning Autistic Spectrum Disorders

ERIC Educational Resources Information Center

Vickerstaff, Sandy; Heriot, Sandra; Wong, Michelle; Lopes, Ana; Dossetor, David

2007-01-01

Although social competence deficits in children with high-functioning autistic spectrum disorders (HFASD) are well documented, there is little research investigating self-perceptions of social limitations. This study replicated research showing a negative association between self-perceived social competence and intellectual ability and…

Maximizing the Potential of Our Youth with Intellectual Disabilities: Rethinking Functional Curriculum

ERIC Educational Resources Information Center

Rich-Gross, Denise A.

2014-01-01

There exists a need to examine the practice of pushing functional curriculum to the bottom of the list to teach students with intellectual disabilities (ID). This article discusses how students with these disabilities could better transition into society if they are instructed appropriately. The author further investigates the current practices in…

Video Self-Modeling on an iPad to Teach Functional Math Skills to Adolescents with Autism and Intellectual Disability

ERIC Educational Resources Information Center

Burton, Cami E.; Anderson, Darlene H.; Prater, Mary Anne; Dyches, Tina T.

2013-01-01

Researchers suggest that video-based interventions can provide increased opportunity for students with disabilities to acquire important academic and functional skills; however, little research exists regarding video-based interventions on the academic skills of students with autism and intellectual disability. We used a…

Intellectual Ability and Executive Function in Pediatric Moyamoya Vasculopathy

ERIC Educational Resources Information Center

Williams, Tricia S.; Westmacott, Robyn; Dlamini, Nomazulu; Granite, Leeor; Dirks, Peter; Askalan, Rand; MacGregor, Daune; Moharir, Mahendranath; Deveber, Gabrielle

2012-01-01

Aim: Moyamoya vasculopathy is characterized by progressive stenosis of the major arteries of the Circle of Willis, resulting in compromised cerebral blood flow and increased risk of stroke. The objectives of the current study were to examine intellectual and executive functioning of children with moyamoya and to evaluate the impact of moyamoya…

Strengths and Weaknesses in Executive Functioning in Children with Intellectual Disability

ERIC Educational Resources Information Center

Danielsson, Henrik; Henry, Lucy; Messer, David; Ronnberg, Jerker

2012-01-01

Children with intellectual disability (ID) were given a comprehensive range of executive functioning measures, which systematically varied in terms of verbal and non-verbal demands. Their performance was compared to the performance of groups matched on mental age (MA) and chronological age (CA), respectively. Twenty-two children were included in…

The Role of Tests in Assessing Intellectual Functioning of Children with Special Needs.

ERIC Educational Resources Information Center

Mearig, Judith S.

1981-01-01

Various testing methods have been developed to assess the intellectual functioning of children with learning disabilities, but testing is only one tool in the comprehensive process of assessment. The alternatives to relying exclusively on intelligence testing include ability tests, individual education plans, and beginning the teaching/programing…

Validating Functional Measures of Physical Ability for Aging People with Intellectual Developmental Disability

ERIC Educational Resources Information Center

Maring, Joyce R.; Costello, Ellen; Birkmeier, Marisa C.; Richards, Maggie; Alexander, Lisa M.

2013-01-01

Unlike the aging population without intellectual and developmental disabilities (IDD), few standardized performance measures exist to assess physical function and risk for adverse outcomes such as nonfatal, unintentional injuries. We modified 3 selected standardized performance tools in the areas of general fitness (2-Minute Walk Test), balance…

Structural and Functional Characteristics of the Social Networks of People with Mild Intellectual Disabilities

ERIC Educational Resources Information Center

van Asselt-Goverts, A. E.; Embregts, P. J. C. M.; Hendriks, A. H. C.

2013-01-01

In the research on people with intellectual disabilities and their social networks, the functional characteristics of their networks have been examined less often than the structural characteristics. Research on the structural characteristics of their networks is also usually restricted to the size and composition of the networks, moreover, with…

Postural Care for People with Intellectual Disabilities and Severely Impaired Motor Function: A Scoping Review

ERIC Educational Resources Information Center

Robertson, Janet; Baines, Susannah; Emerson, Eric; Hatton, Chris

2018-01-01

Background: Poor postural care can have severe and life-threatening complications. This scoping review aims to map and summarize existing evidence regarding postural care for people with intellectual disabilities and severely impaired motor function. Method: Studies were identified via electronic database searches (MEDLINE, CINAHL, PsycINFO and…

Evaluation of Executive Functioning in People with Intellectual Disabilities

ERIC Educational Resources Information Center

Willner, P.; Bailey, R.; Parry, R.; Dymond, S.

2010-01-01

Background: Executive functioning (EF) is an important concept in cognitive psychology that has rarely been studied in people with intellectual disabilities (IDs). The aim of this study was to examine the validity of two test batteries and the structure of EF in this client group. Methods: We administered the children's version of the Behavioural…

A Review of Defining and Measuring Sociability in Children with Intellectual Disabilities

ERIC Educational Resources Information Center

Cook, Fay; Oliver, Chris

2011-01-01

There is a substantial body of research indicating that compromised social functioning for individuals with intellectual disabilities has far reaching implications for quality of life, community participation and wellbeing. However, an inherent difficulty for research into social functioning is the lack of agreed definition of key concepts in the…

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome.

PubMed

Valenti, Daniela; de Bari, Lidia; De Filippis, Bianca; Henrion-Caude, Alexandra; Vacca, Rosa Anna

2014-10-01

Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition leading to deficit in cognitive functions and adaptive behaviors. Until now, the causative mechanism leading to intellectual disability is unknown and the progression of the condition is poorly understood. We first report latest advances on genetic and environmental regulation of mitochondrial function and its role in brain development. Starting from the structure, function and regulation of the oxidative phosphorylation apparatus, we review how mitochondrial biogenesis and dynamics play a central role in neurogenesis and neuroplasticity. We then discuss how dysfunctional mitochondria and alterations in reactive oxygen species homeostasis are potentially involved in the pathogenesis of various neurodevelopmental syndromes with a special focus on Down, Rett, Fragile X syndromes and autism spectrum disorders. Finally, we review and suggest novel therapeutic approaches aimed at improving intellectual disability by activating mitochondrial function and reducing oxidative stress to amiliorate the quality of life in the subjects affected. Copyright © 2014 Elsevier Ltd. All rights reserved.

Predictors of visual-motor integration in children with intellectual disability.

PubMed

Memisevic, Haris; Sinanovic, Osman

2012-12-01

The aim of this study was to assess the influence of sex, age, level and etiology of intellectual disability on visual-motor integration in children with intellectual disability. The sample consisted of 90 children with intellectual disability between 7 and15 years of age. Visual-motor integration was measured using the Acadia test of visual-motor integration. A multiple regression analysis was used for data analysis. The results of this study showed that sex, level of intellectual disability, and age were significant predictors of visual-motor integration. The etiology of intellectual disability did not play a significant role in predicting visual-motor integration. Visual-motor integration skills are very important for a child's overall level of functioning. Individualized programs for the remediation of visual-motor integration skills should be a part of the curriculum for children with intellectual disability.

Working Memory: Maintenance, Updating, and the Realization of Intentions

PubMed Central

Nyberg, Lars; Eriksson, Johan

2016-01-01

“Working memory” refers to a vast set of mnemonic processes and associated brain networks, relates to basic intellectual abilities, and underlies many real-world functions. Working-memory maintenance involves frontoparietal regions and distributed representational areas, and can be based on persistent activity in reentrant loops, synchronous oscillations, or changes in synaptic strength. Manipulation of content of working memory depends on the dorsofrontal cortex, and updating is realized by a frontostriatal ‘“gating” function. Goals and intentions are represented as cognitive and motivational contexts in the rostrofrontal cortex. Different working-memory networks are linked via associative reinforcement-learning mechanisms into a self-organizing system. Normal capacity variation, as well as working-memory deficits, can largely be accounted for by the effectiveness and integrity of the basal ganglia and dopaminergic neurotransmission. PMID:26637287

Mood disorders. Effective management of major depressive disorder in the geriatric patient.

PubMed

Evers, Martin M; Marin, Deborah B

2002-10-01

Major depressive disorder (MDD), commonly called depression, is characterized by a collection of psychologic, somatic, physical, behavioral, and cognitive symptoms that interfere with or prevent the execution of normal daily responsibilities and activities (e.g., work, exercise, hobbies, intellectual pursuits). Older persons with MDD are likely to present with weight loss and suicidal ideation or a preoccupation with death. Also common is irritability, anxiety, a change in functional ability, or some combination of these. Pharmacotherapy is an effective intervention for management of MDD symptoms. It can be used in combination with psychotherapy, or as monotherapy in patients who do not respond to psychotherapy and other nondrug interventions.

Social Cognition in Williams Syndrome: Relations between Performance on the Social Attribution Task and Cognitive and Behavioral Characteristics.

PubMed

van der Fluit, Faye; Gaffrey, Michael S; Klein-Tasman, Bonita P

2012-01-01

Williams syndrome (WS) is a developmental disorder of genetic origin, with characteristic cognitive and personality profiles. Studies of WS point to an outgoing and gregarious personality style, often contrasted with autism spectrum disorders; however, recent research has uncovered underlying social reciprocity difficulties in people with WS. Social information processing difficulties that underlie these social reciprocity difficulties have been sparsely examined. Participants in the current study included 24 children with WS ages 8 through 15. A lab-based measure of social perception and social cognition was administered (Social Attribution Test), as well as an intellectual functioning measure (KBIT-II) and parent reports of communication and reciprocal social skills (Social Communication Questionnaire, Social Responsiveness Scale). Relations between social cognition, cognitive abilities, and social-communication were examined. Results demonstrated relations between parent-reported social reciprocity and the typicality of the responses provided in the lab-based measure, even once variability in intellectual functioning was taken into account. Specifically, those individuals who produced narratives in response to the social attribution task (SAT) that were more similar to those described in previous studies of typically developing individuals were also reported to have fewer social reciprocity difficulties in the real world setting as reported by parents. In addition, a significant improvement in performance on the SAT was seen with added scaffolding, particularly for participants with stronger intellectual functioning. These findings indicate that difficulties interpreting the social dynamics between others in ambiguous situations may contribute to the social relationship difficulties observed in people with WS, above and beyond the role of intellectual functioning. Exploratory analyses indicated that performance by individuals with stronger intellectual functioning is improved with additional structure to a greater degree than for those with weaker intellectual functioning. Interventions that specifically target these social information processing of individuals with WS would likely be beneficial.

Social Cognition in Williams Syndrome: Relations between Performance on the Social Attribution Task and Cognitive and Behavioral Characteristics

PubMed Central

van der Fluit, Faye; Gaffrey, Michael S.; Klein-Tasman, Bonita P.

2012-01-01

Williams syndrome (WS) is a developmental disorder of genetic origin, with characteristic cognitive and personality profiles. Studies of WS point to an outgoing and gregarious personality style, often contrasted with autism spectrum disorders; however, recent research has uncovered underlying social reciprocity difficulties in people with WS. Social information processing difficulties that underlie these social reciprocity difficulties have been sparsely examined. Participants in the current study included 24 children with WS ages 8 through 15. A lab-based measure of social perception and social cognition was administered (Social Attribution Test), as well as an intellectual functioning measure (KBIT-II) and parent reports of communication and reciprocal social skills (Social Communication Questionnaire, Social Responsiveness Scale). Relations between social cognition, cognitive abilities, and social-communication were examined. Results demonstrated relations between parent-reported social reciprocity and the typicality of the responses provided in the lab-based measure, even once variability in intellectual functioning was taken into account. Specifically, those individuals who produced narratives in response to the social attribution task (SAT) that were more similar to those described in previous studies of typically developing individuals were also reported to have fewer social reciprocity difficulties in the real world setting as reported by parents. In addition, a significant improvement in performance on the SAT was seen with added scaffolding, particularly for participants with stronger intellectual functioning. These findings indicate that difficulties interpreting the social dynamics between others in ambiguous situations may contribute to the social relationship difficulties observed in people with WS, above and beyond the role of intellectual functioning. Exploratory analyses indicated that performance by individuals with stronger intellectual functioning is improved with additional structure to a greater degree than for those with weaker intellectual functioning. Interventions that specifically target these social information processing of individuals with WS would likely be beneficial. PMID:22737137

Neonatal hypothyroidism

MedlinePlus

... the first month or so usually have normal intelligence. Untreated mild hypothyroidism can lead to severe intellectual ... 2018, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM ...

Is intelligence equivalent to executive functions?

PubMed

Ardila, Alfredo

2018-05-01

Since the mid 19th century, cognitive and behavioral neurosciences have attempted to find the neurological bases of intellectual abilities. During the early 20th century the psychometric concept of "intelligence" was coined; and toward the end of the 20th century the neuropsychological concept of "executive functions" was introduced. Controversies, however, remain about the unity or heterogeneity of so-called executive functions. It is proposed that two major executive functions could be separated: metacognitive -or intelectual- and emotional/motivational. A similar distinction has been suggested by several authors. Standard definitions of intelligence implicitly assume that executive functions represent the fundamental components of intelligence. Research has demonstrated that, if considered as a whole, executive functions only partially correspond to the psychometric concept of intelligence; whereas some specific executive functions clearly correspond to intelligence, some others do not involve intelligence. If using a major distinction between metacognitive -or simply "intellectual"-executive functions, and emotional/ motivational -or simply non-intellectual-executive functions, it becomes evident that general intelligence can be equated with metacognitive executive functions but not with emotional/ motivational executive functions.

NDST1 missense mutations in autosomal recessive intellectual disability.

PubMed

Reuter, Miriam S; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B; Uebe, Steffen; Wienker, Thomas F; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia

2014-11-01

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in the clinical features, including both demonstrated and apparent intellectual disability, muscular hypotonia, epilepsy, and postnatal growth deficiency. Furthermore, in Drosophila, knockdown of sulfateless, the NDST ortholog, impairs long-term memory, highlighting its function in cognition. Our data confirm NDST1 mutations as a cause of autosomal recessive intellectual disability with a distinctive phenotype, and support an important function of NDST1 in human development. © 2014 Wiley Periodicals, Inc.

The reaction of the cardio-vascular and sympathico-adrenal systems to intellectual activity with emotional stress. [human operator performance

NASA Technical Reports Server (NTRS)

Tomashevskaya, L. I.

1975-01-01

The effect of emotiogenic factors on an operator's intellectual activity were studied for differing working regimes on an experimental control panel that provided for light, sonic, and electrocutaneous stimuli. The latter stimulus was activated automatically if the subject gave an incorrect response. It was shown that the working capacity of the operator under stress depends to a great extent on the effect of the emotiogenic factors on the individual functioning characteristics of the cardiovascular and sympathetic-adrenal systems. Moral, intellectual, willpower, emotional, and other personality traits are decisive factors of operator function.

Executive functions as predictors of visual-motor integration in children with intellectual disability.

PubMed

Memisevic, Haris; Sinanovic, Osman

2013-12-01

The goal of this study was to assess the relationship between visual-motor integration and executive functions, and in particular, the extent to which executive functions can predict visual-motor integration skills in children with intellectual disability. The sample consisted of 90 children (54 boys, 36 girls; M age = 11.3 yr., SD = 2.7, range 7-15) with intellectual disabilities of various etiologies. The measure of executive functions were 8 subscales of the Behavioral Rating Inventory of Executive Function (BRIEF) consisting of Inhibition, Shifting, Emotional Control, Initiating, Working memory, Planning, Organization of material, and Monitoring. Visual-motor integration was measured with the Acadia test of visual-motor integration (VMI). Regression analysis revealed that BRIEF subscales explained 38% of the variance in VMI scores. Of all the BRIEF subscales, only two were statistically significant predictors of visual-motor integration: Working memory and Monitoring. Possible implications of this finding are further elaborated.

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

PubMed Central

Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke HM; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

2016-01-01

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification. PMID:26757981

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

PubMed

Lugtenberg, Dorien; Reijnders, Margot R F; Fenckova, Michaela; Bijlsma, Emilia K; Bernier, Raphael; van Bon, Bregje W M; Smeets, Eric; Vulto-van Silfhout, Anneke T; Bosch, Danielle; Eichler, Evan E; Mefford, Heather C; Carvill, Gemma L; Bongers, Ernie M H F; Schuurs-Hoeijmakers, Janneke Hm; Ruivenkamp, Claudia A; Santen, Gijs W E; van den Maagdenberg, Arn M J M; Peeters-Scholte, Cacha M P C D; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G; de Vries, Petra F; Veltman, Joris A; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B A; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E L M

2016-08-01

Recently WAC was reported as a candidate gene for intellectual disability (ID) based on the identification of a de novo mutation in an individual with severe ID. WAC regulates transcription-coupled histone H2B ubiquitination and has previously been implicated in the 10p12p11 contiguous gene deletion syndrome. In this study, we report on 10 individuals with de novo WAC mutations which we identified through routine (diagnostic) exome sequencing and targeted resequencing of WAC in 2326 individuals with unexplained ID. All but one mutation was expected to lead to a loss-of-function of WAC. Clinical evaluation of all individuals revealed phenotypic overlap for mild ID, hypotonia, behavioral problems and distinctive facial dysmorphisms, including a square-shaped face, deep set eyes, long palpebral fissures, and a broad mouth and chin. These clinical features were also previously reported in individuals with 10p12p11 microdeletion syndrome. To investigate the role of WAC in ID, we studied the importance of the Drosophila WAC orthologue (CG8949) in habituation, a non-associative learning paradigm. Neuronal knockdown of Drosophila CG8949 resulted in impaired learning, suggesting that WAC is required in neurons for normal cognitive performance. In conclusion, we defined a clinically recognizable ID syndrome, caused by de novo loss-of-function mutations in WAC. Independent functional evidence in Drosophila further supported the role of WAC in ID. On the basis of our data WAC can be added to the list of ID genes with a role in transcription regulation through histone modification.

Assessment of Foot Shape in Children and Adolescents with Intellectual Disability: A Pilot Study.

PubMed

Wolan-Nieroda, Andżelina; Guzik, Agnieszka; Bazarnik-Mucha, Katarzyna; Rachwał, Maciej; Drzał-Grabiec, Justyna; Szeliga, Ewa; Walicka-Cupryś, Katarzyna

2018-04-11

BACKGROUND Available publications provide little evidence pertaining to assessment of foot shape in children with intellectual disability. The aim of this study was to assess the parameters of foot shape in children and adolescents with intellectual disability and to evaluate the relationship between the degree of disability and these parameters. MATERIAL AND METHODS The study involved 90 individuals aged 7-15 years, including 45 subjects with mild and moderate levels of intellectual disability (study group) and 45 peers with normal intellectual development (control group). Each participant was subjected to photogrammetric assessment of foot shape based on the projection moire effect. RESULTS Analysis of the relationship between the disability level and the assessed parameters showed that the length of the right (p=0.006) and left (p=0.004) foot, as well as Wejsflog's rate for the right (p<0.001) and left (p<0.001) foot, were significantly higher among children with mild disability, whereas GAMMA angle of the right (p=0.028) and left (p=0.006) foot was significantly higher among children with moderate disability. CONCLUSIONS The findings show a significant relationship between the degree of disability and the assessed foot parameters. Significant differences between the subjects with intellectual disability and the control group were identified in the basic parameters defining foot structure.

Needs of Persons with Severe Intellectual Disabilities: A Q-Methodological Study of Clients with Severe Behavioural Disorders and Severe Intellectual Disabilities

ERIC Educational Resources Information Center

Kreuger, Linda; van Exel, Job; Nieboer, Anna

2008-01-01

Background: A demand-oriented approach is becoming increasingly important in care provision. The purpose of this study was to identify the primary needs of clients with Severe Behavioural Disorders and Severe Intellectual Disabilities. Materials and Methods: We used the theory of Social Production Function and Maslow's hierarchy of needs to…

Symbol labelling improves advantageous decision-making on the Iowa Gambling Task in people with intellectual disabilities.

PubMed

Dymond, Simon; Bailey, Rebecca; Willner, Paul; Parry, Rhonwen

2010-01-01

Individuals with intellectual and developmental disabilities often have difficulties foregoing short-term loss for long-term gain. The Iowa Gambling Task (IGT) has been extensively adopted as a laboratory measure of this ability. In the present study, we undertook the first investigation with people with intellectual disabilities using a two-choice child version of the IGT, with measures of intellectual and executive functioning. Compared to a group of matched controls, people with intellectual disabilities performed advantageously and showed high levels of subjective awareness about the relative goodness and badness of the decks. A symbol labelling intervention, in which participants were taught to label the good and bad decks at regular intervals significantly improved advantageous decision-making to levels approximating that of controls. Factor analysis of executive functioning scores identified working memory and mental flexibility (response initiation and set shifting), with a near-significant inverse correlation between the extent to which the intervention was required and mental flexibility. These findings show, for the first time, that people with intellectual disabilities are capable of performing advantageously on the IGT and add to the growing clinical literature on decision-making. Copyright 2009 Elsevier Ltd. All rights reserved.

Systemic lupus erythematosus with organic brain syndrome: serial electroencephalograms accurately evaluate therapeutic efficacy.

PubMed

Kato, Takashi; Shiratori, Kyoji; Kobashigawa, Tsuyoshi; Hidaka, Yuji

2006-01-01

A 48-year-old man with systemic lupus erythematosus developed organic brain syndrome. High-dose prednisolone was ineffective, and somnolence without focal signs rapidly developed. Electroencephalogram (EEG) demonstrated a slow basic rhythm (3 Hz), but brain magnetic resonance imaging was normal. Somnolence resolved soon after performing plasma exchange (two sessions). However, memory dysfunction persisted, with EEG demonstrating mild abnormalities (7-8 Hz basic rhythm). Double-filtration plasmapheresis (three sessions) was done, followed by intravenous cyclophosphamide. Immediately after the first plasmapheresis session, memory dysfunction began to improve. After the second dose of cyclophosphamide, intellectual function resolved completely and EEG findings also normalized (basic rhythm of 10 Hz waves). Serial EEG findings precisely reflected the neurological condition and therapeutic efficacy in this patient. In contrast, protein levels in cerebrospinal fluid remained high and did not seem to appropriately reflect the neurological condition in this patient.

Short-term treatment with flumazenil restores long-term object memory in a mouse model of Down syndrome.

PubMed

Colas, Damien; Chuluun, Bayarsaikhan; Garner, Craig C; Heller, H Craig

2017-04-01

Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABA A receptor (GABA A R) antagonists in adult animals, but none of the compounds investigated are approved for human use. We explored the therapeutic potential of flumazenil (FLUM), a GABA A R antagonist working at the benzodiazepine binding site that has FDA approval. Long-term memory was assessed by the Novel Object Recognition (NOR) testing in Ts65Dn mice after acute or short-term chronic treatment with FLUM. Short-term, low, chronic dose regimens of FLUM elicit long-lasting (>1week) normalization of cognitive function in both young and aged mice. FLUM at low dosages produces long lasting cognitive improvements and has the potential of fulfilling an unmet therapeutic need in DS. Copyright © 2017. Published by Elsevier Inc.

An Educational Programming Framework for a Subset of Students with Diverse Learning Needs: Borderline Intellectual Functioning

ERIC Educational Resources Information Center

Shaw, Steven R.

2008-01-01

Students with intelligence test scores between 70 and 85 frequently fall into the gap between general and special education. Students with borderline intellectual functioning are a large population at-risk for school failure. Recent educational trends (e.g., the use of response to intervention models of special education eligibility,…

A Pilot Study of Social Competence Group Training for Adolescents with Borderline Intellectual Functioning and Emotional and Behavioural Problems (SCT-ABI)

ERIC Educational Resources Information Center

Nestler, J.; Goldbeck, L.

2011-01-01

Background: Emotional and behavioural problems as well as a lack of social competence are common in adolescents with borderline intellectual functioning and impair their social and vocational integration. Group interventions specifically developed for this target group are scarce and controlled evaluation studies are absent. Methods: A…

Assessment of Patients with Intellectual Disability using the International Classification of Functioning, Disability and Health to Evaluate Dental Treatment Tolerability

ERIC Educational Resources Information Center

Maeda, S.; Kita, F.; Miyawaki, T.; Takeuchi, K.; Ishida, R.; Egusa, M.; Shimada, M.

2005-01-01

Patients with serious intellectual disability (ID) are occasionally unable to tolerate dental treatment when intravenous sedation or general anaesthesia (IVSGA) is involved. In order to make a decision regarding the application of IVSGA, the International Classification of Functioning, Disability and Health (ICF) is useful. Therefore, in this…

Self-Monitoring Checklists for Inquiry Problem-Solving: Functional Problem-Solving Methods for Students with Intellectual Disability

ERIC Educational Resources Information Center

Miller, Bridget; Taber-Doughty, Teresa

2014-01-01

Three students with mild to moderate intellectual and multiple disability, enrolled in a self-contained functional curriculum class were taught to use a self-monitoring checklist and science notebook to increase independence in inquiry problem-solving skills. Using a single-subject multiple-probe design, all students acquired inquiry…

Exploring Structural Dynamics within and between Sensory and Intellectual Functioning in Old and Very Old Age: Longitudinal Evidence from the Berlin Aging Study

ERIC Educational Resources Information Center

Ghisletta, Paolo; Lindenberger, Ulman

2005-01-01

Cross-sectional and longitudinal analyses of age-heterogeneous samples have revealed correlational links between and within intellectual, sensory, and sensorimotor domains. Due to basic limitations of cross-sectional designs and a reluctance to disentangle antecedent-consequent relations in longitudinal designs, the functional significance and…

A Factor-Analytic Study of Adaptive Behavior and Intellectual Functioning in Learning Disabled Children.

ERIC Educational Resources Information Center

Yeargan, Dollye R.

The factorial structure of intellectual functioning and adaptive behavior was examined in 160 learning disabled students (6 to 16 years old). Ss were administered the Wechsler Intelligence Scale for Children-Revised (WISC-R) and the Coping Inventory (CI). Factor analysis of WISC-R scores revealed three factors: verbal comprehenson, perceptual…

Blending Common Core Standards and Functional Skills in Thematic Units for Students with Significant Intellectual Disabilities

ERIC Educational Resources Information Center

Cooper-Duffy, Karena; Hyer, Glenda

2014-01-01

Many teachers who educate students with significant intellectual disabilities struggle with the requirements for teaching academics linked to the Extended Common Core State Standards (ECCSS, 2010) while also balancing the need to teach functional skills. This article provides a practical way of creating thematic units that focuses on functional…

Bannatyne-Recategorized WISC-R Patterns of Mentally Retarded, Learning Disabled, Normal, and Intellectually Superior Children: A Meta-Analysis.

ERIC Educational Resources Information Center

Mueller, Horst H.; And Others

1983-01-01

Metaanalytical procedures examined the Wechsler Intelligence Scale-Revised subtest performance patterns of 36 samples of below average, normal average, learning disabled average, and above average IQ children from research. Relative patterning of WISC-R subtests as reflected in children's Bannatyne-recategorized performance profiles appeared to be…

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.

PubMed

Grau, Christina; Starkovich, Molly; Azamian, Mahshid S; Xia, Fan; Cheung, Sau Wai; Evans, Patricia; Henderson, Alex; Lalani, Seema R; Scott, Daryl A

2017-01-01

By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1). Deletions of this ~430 kb region have not been previously implicated in human disease. Duplications of GSPT2 have been documented in individuals with intellectual disability, but the phenotypic consequences of a loss of GSPT2 function have not been elucidated in humans or mouse models. Changes in MAGED1 have not been associated with intellectual disability in humans, but loss of MAGED1 function is associated with neurocognitive and neurobehavioral phenotypes in mice. In all cases, the Xp11.22 deletion was inherited from an unaffected mother. Studies performed on DNA from one of these mothers did not show evidence of skewed X-inactivation. These results suggest that deletions of an ~430 kb region on chromosome Xp11.22 that encompass CENPVL1, CENPVL2, GSPT2 and MAGED1 cause a distinct X-linked syndrome characterized by intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly. Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions.

The Measurement and Comparison of Variables Related to Driver and Highway Safety Between Educable Mentally Retarded and Normal High School Age Students in Pennsylvania. Final Report.

ERIC Educational Resources Information Center

Bologa, James F.; And Others

The study was conducted to measure variables related to safe driving and to designate factors predictive of success in driving safety of educable mentally retarded (EMR) students as compared to normal students. Subjects were 349 EMR and 443 intellectually normal students (ages 16-20), who were evaluated in the following areas: visual acuity,…

Association of Psychosocial Conditions, Oral Health, and Dietary Variety with Intellectual Activity in Older Community-Dwelling Japanese Adults

PubMed Central

Tomioka, Kimiko; Okamoto, Nozomi; Kurumatani, Norio; Hosoi, Hiroshi

2015-01-01

Background This study examined the factors related to intellectual activity in community-dwelling elderly persons. Methods Self-administered questionnaires mailed to all people aged ≥65 years in a dormitory suburb in Japan (n = 15,210). The response rate was 72.2%. Analytical subjects (n = 8,910) were those who lived independently and completely answered questions about independent and dependent variables and covariates. Independent variables included psychosocial conditions (i.e., social activities, hobbies, and a sense that life is worth living (ikigai)), oral health (i.e., dental health behaviors and oral function evaluated by chewing difficulties, swallowing difficulties, and oral dryness), and dietary variety measured using the dietary variety score (DVS). A dependent variable was intellectual activity measured using the Tokyo Metropolitan Institute of Gerontology Index of Competence. Covariates included age, gender, family structure, pensions, body mass index, alcohol, smoking, medical history, self-rated health, medications, cognitive function, depression, and falling. Logistic regression was used to estimate the odds ratio (OR) for poor intellectual activity. Results Poor intellectual activity was reported by 28.9% of the study population. After adjustment for covariates and independent variables, poor intellectual activity was significantly associated with nonparticipation in social activities (OR = 1.90, 95%CI = 1.61–2.24), having neither hobbies nor ikigai (3.13, 2.55–3.84), having neither regular dental visits nor daily brushing (1.70, 1.35–2.14), the poorest oral function (1.61, 1.31–1.98), and the lowest DVS quartile (1.96, 1.70–2.26). Conclusion These results indicate that psychosocial conditions, oral health, and dietary variety are independently associated with intellectual activity in elderly persons. The factors identified in this study may be used in community health programs for maintaining the intellectual activity ability of the elderly. PMID:26360380

Congenital Amusia Persists in the Developing Brain after Daily Music Listening

PubMed Central

Mignault Goulet, Geneviève; Moreau, Patricia; Robitaille, Nicolas; Peretz, Isabelle

2012-01-01

Congenital amusia is a neurodevelopmental disorder that affects about 3% of the adult population. Adults experiencing this musical disorder in the absence of macroscopically visible brain injury are described as cases of congenital amusia under the assumption that the musical deficits have been present from birth. Here, we show that this disorder can be expressed in the developing brain. We found that (10–13 year-old) children exhibit a marked deficit in the detection of fine-grained pitch differences in both musical and acoustical context in comparison to their normally developing peers comparable in age and general intelligence. This behavioral deficit could be traced down to their abnormal P300 brain responses to the detection of subtle pitch changes. The altered pattern of electrical activity does not seem to arise from an anomalous functioning of the auditory cortex, because all early components of the brain potentials, the N100, the MMN, and the P200 appear normal. Rather, the brain and behavioral measures point to disrupted information propagation from the auditory cortex to other cortical regions. Furthermore, the behavioral and neural manifestations of the disorder remained unchanged after 4 weeks of daily musical listening. These results show that congenital amusia can be detected in childhood despite regular musical exposure and normal intellectual functioning. PMID:22606299

Intellectual development in preschool children with early treated congenital hypothyroidism.

PubMed

Seo, Min Kyoung; Yoon, Jong Seo; So, Chul Hwan; Lee, Hae Sang; Hwang, Jin Soon

2017-06-01

Delayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated CH. We retrospectively reviewed the clinical records of 43 children (age range: 13 to 60 days of life; 22 girls and 21 boys) diagnosed with CH. Children aged 5 to 7 years were examined using the Korean Wechsler Intelligence Scale for Children or the Korean Wechsler Preschool and Primary Scale of Intelligence. The patients started treatment between 13 and 60 days of age. The mean intelligence quotient (IQ) of patients tested at age 5 to 7 years was 103.14±11.68 (IQ range: 76-126). None had intellectual disability (defined as an IQ <70). Twenty-one subjects were treated with a low dose (6.0-9.9 µg/kg/day) and 22 with a high dose of levothyroxine (10.0-16.0 µg/kg/day). There was no significant difference in the mean full-scale IQ (FSIQ), verbal IQ (VIQ), and performance IQ (PIQ) scores between the 2 groups. FSIQ, PIQ, and VIQ scores were not significantly correlated with initial dose of L-T4, initial fT4, age at treatment in multivariate analysis. IQ scores of subjects with early treated CH diagnosed through a neonatal screening test were within normal range, regardless of etiology, thyroid function, initial dose of levothyroxine, and age at start of treatment.

United States-Cuba Normalization Act of 2013

THOMAS, 113th Congress

Rep. Rush, Bobby L. [D-IL-1

2013-05-09

House - 06/14/2013 Referred to the Subcommittee on Courts, Intellectual Property, and the Internet. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Executive Functions and Prader-Willi Syndrome: Global Deficit Linked with Intellectual Level and Syndrome-Specific Associations

ERIC Educational Resources Information Center

Chevalère, Johann; Postal, Virginie; Jauregui, Joseba; Copet, Pierre; Laurier, Virginie; Thuilleaux, Denise

2015-01-01

The aim of this study was to support the growing evidence suggesting that Prader-Willi Syndrome (PWS) might present with an impairment of executive functions (EFs) and to investigate whether this impairment is specific to patients with PWS or due to their intellectual disability (ID). Six tasks were administered to assess EFs (inhibition,…

An Analysis of Functional Communication Training as an Empirically Supported Treatment for Problem Behavior Displayed by Individuals with Intellectual Disabilities

ERIC Educational Resources Information Center

Kurtz, Patricia F.; Boelter, Eric W.; Jarmolowicz, David P.; Chin, Michelle D.; Hagopian, Louis P.

2011-01-01

This paper examines the literature on the use of functional communication training (FCT) as a treatment for problem behavior displayed by individuals with intellectual disabilities (ID). Criteria for empirically supported treatments developed by Divisions 12 and 16 of the American Psychological Association (Kratochwill & Stoiber, 2002; Task Force,…

The Impact of Behavioural Executive Functioning and Intelligence on Math Abilities in Children with Intellectual Disabilities

ERIC Educational Resources Information Center

Dekker, M. C.; Ziermans, T. B.; Swaab, H.

2016-01-01

Background: Little is known about the role of behavioural executive functioning (EF) skills and level of intelligence (IQ) on math abilities in children with mild to borderline intellectual disabilities. Method: Teachers of 63 children attending a school for special education (age: 10 to 13 years; IQ: 50 to 85) filled out a Behaviour Rating…

Math Practice and Its Influence on Math Skills and Executive Functions in Adolescents with Mild to Borderline Intellectual Disability

ERIC Educational Resources Information Center

Jansen, Brenda R. J.; De Lange, Eva; Van der Molen, Mariet J.

2013-01-01

Adolescents with mild to borderline intellectual disability (MBID) often complete schooling without mastering basic math skills, even though basic math is essential for math-related challenges in everyday life. Limited attention to cognitive skills and low executive functioning (EF) may cause this delay. We aimed to improve math skills in an…

On the Relationship between Motor Performance and Executive Functioning in Children with Intellectual Disabilities

ERIC Educational Resources Information Center

Hartman, E.; Houwen, S.; Scherder, E.; Visscher, C.

2010-01-01

Background: It has been suggested that children with intellectual disabilities (ID) have motor problems and higher-order cognitive deficits. The aim of this study was to examine the motor skills and executive functions in school-age children with borderline and mild ID. The second aim was to investigate the relationship between the two performance…

Manual Signing in Adults with Intellectual Disability: Influence of Sign Characteristics on Functional Sign Vocabulary

ERIC Educational Resources Information Center

Meuris, Kristien; Maes, Bea; De Meyer, Anne-Marie; Zink, Inge

2014-01-01

Purpose: The purpose of this study was to investigate the influence of sign characteristics in a key word signing (KWS) system on the functional use of those signs by adults with intellectual disability (ID). Method: All 507 signs from a Flemish KWS system were characterized in terms of phonological, iconic, and referential characteristics.…

A Pilot Study of a Test for Visual Recognition Memory in Adults with Moderate to Severe Intellectual Disability

ERIC Educational Resources Information Center

Pyo, Geunyeong; Ala, Tom; Kyrouac, Gregory A.; Verhulst, Steven J.

2010-01-01

Objective assessment of memory functioning is an important part of evaluation for Dementia of Alzheimer Type (DAT). The revised Picture Recognition Memory Test (r-PRMT) is a test for visual recognition memory to assess memory functioning of persons with intellectual disabilities (ID), specifically targeting moderate to severe ID. A pilot study was…

Language in Low-Functioning Children with Autistic Disorder: Differences between Receptive and Expressive Skills and Concurrent Predictors of Language

ERIC Educational Resources Information Center

Maljaars, Jarymke; Noens, Ilse; Scholte, Evert; van Berckelaer-Onnes, Ina

2012-01-01

Language profiles of children with autistic disorder and intellectual disability (n = 36) were significantly different from the comparison groups of children with intellectual disability (n = 26) and typically developing children (n = 34). The group low-functioning children with autistic disorder obtained a higher mean score on expressive than on…

Reliability and Validity of a German Version of the "Questions about Behavioral Function" (QABF) Scale for Self-Injurious Behavior in Individuals with Intellectual Disabilities

ERIC Educational Resources Information Center

Bienstein, Pia; Nussbeck, Susanne

2009-01-01

The psychometric properties of a German version of the Questions About Behavioral Function Scale (QABF) (Matson & Vollmer, 1995) were examined in a sample of 522 individuals with intellectual disabilities residing in large facilities participated. The factor structure was first examined by exploratory factor analysis, yielding a…

Teaching Core Content Embedded in a Functional Activity to Students with Moderate Intellectual Disability Using a Simultaneous Prompting Procedure

ERIC Educational Resources Information Center

Karl, Jennifer; Collins, Belva C.; Hager, Karen D.; Ault, Melinda Jones

2013-01-01

The purpose of this study was to investigate the effects of a simultaneous prompting procedure in teaching four secondary students with moderate intellectual disability to acquire and generalize core content embedded in a functional activity. Data gathered within the context of a multiple probe design revealed that all participants learned the…

What's at Stake in the Lives of People with Intellectual Disability? Part I: The Power of Naming, Defining, Diagnosing, Classifying, and Planning Supports

ERIC Educational Resources Information Center

Schalock, Robert L.; Luckasson, Ruth

2013-01-01

This article focuses on the power of naming, defining, diagnosing, classifying, and planning supports for people with intellectual disability. The article summarizes current thinking regarding these five functions, states the essential question addressed by the respective function, and provides an overview of the high stakes involved for people…

Preschool to School in Autism: Neuropsychiatric Problems 8 Years after Diagnosis at 3 Years of Age

ERIC Educational Resources Information Center

Barnevik Olsson, M.; Lundström, S.; Westerlund, J.; Giacobini, M. B.; Gillberg, C.; Fernell, E.

2016-01-01

The study presents neuropsychiatric profiles of children aged 11 with autism spectrum disorder, assessed before 4.5 years, and after interventions. The original group comprised a community sample of 208 children with ASD. Parents of 128 participated--34 with average intellectual function, 36 with borderline intellectual function and 58 with…

Cognitive Profiles in Youth with Autism Spectrum Disorder: An Investigation of Base Rate Discrepancies Using the Differential Ability Scales-Second Edition

ERIC Educational Resources Information Center

Nowell, Kerri P.; Schanding, G. Thomas, Jr.; Kanne, Stephen M.; Goin-Kochel, Robin P.

2015-01-01

Extant data suggest that the cognitive profiles of individuals with ASD may be characterized by variability, particularly in terms of verbal intellectual functioning (VIQ) and non-verbal intellectual functioning (NVIQ) discrepancies. The "Differential Ability Scales, Second Edition" (DAS-II) has limited data available on its use with…

Comparison of Short and Long Versions of the Prudhoe Cognitive Function Test and the K-BIT in Participants with Intellectual Impairment

ERIC Educational Resources Information Center

Tyrer, Stephen P.; Wigham, Ann; Cicchetti, Domenic; Margallo-Lana, Marisa; Moore, P. Brian; Reid, Barbara E.

2010-01-01

The Prudhoe Cognitive Function Test (PCFT) directly measures the cognitive abilities of people with intellectual impairment. This study examined the relationship between this instrument and the Kaufman Brief Intelligence Test (K-BIT) and two shorter versions of the same scale. High correlations between the verbal and performance sections of the…

Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations.

PubMed

Ansermet, Francois; Lespinasse, James; Gimelli, Stefania; Béna, Frédérique; Paoloni-Giacobino, Ariane

2010-05-01

We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the proband, encompassing only one known gene, and therefore unlikely to be the cause of the phenotype. However, the role of other genetic factors, such as a recessive condition, could not be ruled out as a putative cause for the phenotype. On the other hand, the role played by a heavily detrimental familial situation on the development and outcome, and possibly leading or contributing to a mild intellectual disability, should be taken into account.

RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.

PubMed

Perez, Yonatan; Menascu, Shay; Cohen, Idan; Kadir, Rotem; Basha, Omer; Shorer, Zamir; Romi, Hila; Meiri, Gal; Rabinski, Tatiana; Ofir, Rivka; Yeger-Lotem, Esti; Birk, Ohad S

2018-04-01

RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation causes an autosomal recessive syndrome of intellectual disability, aberrant behaviour, hypotonia and mild facial dysmorphism with normal brain MRI. Further, we show that RSRC1 is ubiquitously expressed, and that the RSRC1 mutation triggers nonsense-mediated mRNA decay of the RSRC1 transcript in patients' fibroblasts. Short hairpin RNA (shRNA)-mediated lentiviral silencing and overexpression of RSRC1 in SH-SY5Y cells demonstrated that RSRC1 has a role in alternative splicing and transcription regulation. Transcriptome profiling of RSRC1-silenced cells unravelled specific differentially expressed genes previously associated with intellectual disability, hypotonia and schizophrenia, relevant to the disease phenotype. Protein-protein interaction network modelling suggested possible intermediate interactions by which RSRC1 affects gene-specific differential expression. Patient-derived induced pluripotent stem cells, differentiated into neural progenitor cells, showed expression dynamics similar to the RSRC1-silenced SH-SY5Y model. Notably, patient neural progenitor cells had 9.6-fold downregulated expression of IGFBP3, whose brain expression is affected by MECP2, aberrant in Rett syndrome. Interestingly, Igfbp3-null mice have behavioural impairment, abnormal synaptic function and monoaminergic neurotransmission, likely correlating with the disease phenotype.

Looking beyond maternal sensitivity: mother-child correlates of attachment security among children with intellectual disabilities in urban India.

PubMed

John, Aesha; Morris, Amanda Sheffield; Halliburton, Amy L

2012-11-01

This study examined correlates of attachment security among children with intellectual disabilities in urban India. Survey and observational data were gathered from 47 children, mothers, and teachers on children's attachment security, adaptive functioning, and mother-child emotional availability. The data were analyzed to examine whether child emotional availability mediates the links between maternal emotional availability and child attachment security, and between child functioning and attachment security. The results supported full mediation, indicating that children's emotional availability was a primary mechanism through which maternal emotional availability and child functioning were linked to attachment security among children in our sample. The study findings are discussed in the context of implications for family interventions and research on socio-emotional development among children with intellectual disabilities.

It is time to bring borderline intellectual functioning back into the main fold of classification systems

PubMed Central

Wieland, Jannelien; Zitman, Frans G.

2016-01-01

Borderline intellectual functioning is an important and frequently unrecognised comorbid condition relevant to the diagnosis and treatment of any and all psychiatric disorders. In the DSM-IV-TR, it is defined by IQ in the 71–84 range. In DSM-5, IQ boundaries are no longer part of the classification, leaving the concept without a clear definition. This modification is one of the least highlighted changes in DSM-5. In this article we describe the history of the classification of borderline intellectual functioning. We provide information about it and on the importance of placing it in the right context and in the right place in future DSM editions and other classification systems such as the International Classification of Diseases. PMID:27512590

Alleviating Parenting Stress in Parents with Intellectual Disabilities: A Randomized Controlled Trial of a Video-feedback Intervention to Promote Positive Parenting.

PubMed

Hodes, Marja W; Meppelder, Marieke; de Moor, Marleen; Kef, Sabina; Schuengel, Carlo

2017-05-01

Adapted parenting support may alleviate the high levels of parenting stress experienced by many parents with intellectual disabilities. Parents with mild intellectual disabilities or borderline intellectual functioning were randomized to experimental (n = 43) and control (n = 42) conditions. Parents in both groups received care-as-usual. The experimental group also received an adapted version of video-feedback intervention for positive parenting and learning difficulties (VIPP-LD). Measures of parenting stress were obtained pre-test, post-test and 3-month follow-up. Randomization to the experimental group led to a steeper decline in parenting stress related to the child compared to the control group (d = 0.46). No statistically significant effect on stress related to the parent's own functioning or situation was found. The results of the study suggest the feasibility of reducing parenting stress in parents with mild intellectual disability (MID) through parenting support, to the possible benefit of their children. © 2016 John Wiley & Sons Ltd.

Study on government's optimal incentive intensity of intellectual property rights

NASA Astrophysics Data System (ADS)

Yang, Chengbin; Sun, Shengxiang; Wei, Hua

2018-05-01

The integration of military and civilian technology in the development stage of weapon equipment is an inherent requirement for the development of the deep integration of the military and the civilian. In order to avoid repeated development of existing technology and improve the efficiency of weaponry development, the government should take effective measures to encourage development institutions to actively adopt existing intellectual property technology in the process of equipment development. According to the theory of utility function and the characteristics of practical problems, the utility function of government and weapon equipment development units is constructed, and the optimization model of incentive strength for national defense intellectual property is established. According to the numerical simulation, the conclusion is, to improve the development efficiency, and at the same time, to encourage innovation, thre government need to make a trade-off in incentive policy making, to achieve a high level in intellectual property rights' innovation and application.

Intellectual Disability in Children Aged Less than Seven Years Born Moderately and Late Preterm Compared with Very Preterm and Term-Born Children--A Nationwide Birth Cohort Study

ERIC Educational Resources Information Center

Hirvonen, M.; Ojala, R.; Korhonen, P.; Haataja, P.; Eriksson, K.; Rantanen, K.; Gissler, M.; Luukkaala, T.; Tammela, O.

2017-01-01

Background: Prematurity has been shown to be associated with an increased risk of intellectual disability (ID). Method: The aim was to establish whether the prevalence of ID, defined as significant limitations in both intellectual (intelligence quotient below 70) and adaptive functioning among moderately preterm (MP; 32[superscript + 0]-33…

Deletions of VCX-A and NLGN4: A Variable Phenotype Including Normal Intellect

ERIC Educational Resources Information Center

Macarov, M.; Zeigler, M.; Newman, J. P.; Strich, D.; Sury, V.; Tennenbaum, A.; Meiner, V.

2007-01-01

Background: Patients with Xp22.3 interstitial and terminal deletions have been shown to be affected by intellectual disability (ID) or autism. Previously, "VCX-A" (variably charged protein X-A), located at Xp22.3, was introduced as a gene for ID and its presence was suggested to be sufficient to maintain normal mental development. Recent reports…

Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

PubMed

Brar, Randeep; Basel, Donald G; Bick, David P; Weik, LuAnn; vanTuinen, Peter; Peterson, Jess F

2017-01-01

To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).

Assessment of Foot Shape in Children and Adolescents with Intellectual Disability: A Pilot Study

PubMed Central

Wolan-Nieroda, Andżelina; Bazarnik-Mucha, Katarzyna; Rachwał, Maciej; Drzał-Grabiec, Justyna; Szeliga, Ewa; Walicka-Cupryś, Katarzyna

2018-01-01

Background Available publications provide little evidence pertaining to assessment of foot shape in children with intellectual disability. The aim of this study was to assess the parameters of foot shape in children and adolescents with intellectual disability and to evaluate the relationship between the degree of disability and these parameters. Material/Methods The study involved 90 individuals aged 7–15 years, including 45 subjects with mild and moderate levels of intellectual disability (study group) and 45 peers with normal intellectual development (control group). Each participant was subjected to photogrammetric assessment of foot shape based on the projection moire effect. Results Analysis of the relationship between the disability level and the assessed parameters showed that the length of the right (p=0.006) and left (p=0.004) foot, as well as Wejsflog’s rate for the right (p<0.001) and left (p<0.001) foot, were significantly higher among children with mild disability, whereas GAMMA angle of the right (p=0.028) and left (p=0.006) foot was significantly higher among children with moderate disability. Conclusions The findings show a significant relationship between the degree of disability and the assessed foot parameters. Significant differences between the subjects with intellectual disability and the control group were identified in the basic parameters defining foot structure. PMID:29636442

Comparing Teacher-Directed and Computer-Assisted Constant Time Delay for Teaching Functional Sight Words to Students with Moderate Intellectual Disability

ERIC Educational Resources Information Center

Coleman, Mari Beth; Hurley, Kevin J.; Cihak, David F.

2012-01-01

The purpose of this study was to compare the effectiveness and efficiency of teacher-directed and computer-assisted constant time delay strategies for teaching three students with moderate intellectual disability to read functional sight words. Target words were those found in recipes and were taught via teacher-delivered constant time delay or…

Health Status and ADL Functioning of Older Persons with Intellectual Disability: Community Residence versus Residential Care Centers

ERIC Educational Resources Information Center

Lifshitz, Hefziba; Merrick, Joav; Morad, Mohammed

2008-01-01

The objective of the study was to study differences in aging phenomena among adults with intellectual disability (ID), who live in community residence versus their peers in residential care centers and to determine the contribution of health status, age, gender, etiology and level of ID to the decline in ADL function with age. Our study was based…

Intellectual Functioning in Relation to Autism and ADHD Symptomatology in Children and Adolescents with 22q11.2 Deletion Syndrome

ERIC Educational Resources Information Center

Hidding, E.; Swaab, H.; Sonneville, L. M. J.; Engeland, H.; Sijmens-Morcus, M. E. J.; Klaassen, P. W. J.; Duijff, S. N.; Vorstman, J. A. S.

2015-01-01

Background: The 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial syndrome) is associated with an increased risk of various disorders, including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). With this study, we aimed to investigate the relation between intellectual functioning and severity of ASD and ADHD…

A framework for the management of intellectual capital in the health care industry.

PubMed

Grantham, C E; Nichols, L D; Schonberner, M

1997-01-01

This article proposes a new theoretical model for the effective management of intellectual capital in the health care industry. The evolution of knowledge-based resources as a value-adding characteristic of service industries coupled with mounting environmental pressures on health care necessitates the extension of current models of intellectual capital. Our theoretical model contains an expanded context linking its development to organizational learning theory and extends current theory by proposing a six-term archetype of organizational functioning built on flows of information. Further, our proposal offers a hierarchical dimension to intellectual capital and a method of scientific visualization for the measurement of intellectual capital. In conclusion, we offer some practical suggestions for future development, both for researchers and managers.

Forensic issues in intellectual disability.

PubMed

Søndenaa, Erik; Rasmussen, Kirsten; Nøttestad, Jim Aage

2008-09-01

The present paper reviews some of the most significant findings in the field of forensic issues related to intellectual disability over the last 2 years. Recent publications have explored the prevalence and assessment of intellectual disabilities in the criminal justice system, as well as individual characteristics of intellectual disabled offenders. Service by the criminal justice system and treatment of intellectual disabled offenders have also been explored. New insights into violence and sexual offences have been achieved, however identification and evidence-based treatment of intellectual disabled offenders are not widely explored issues. Progress in treatment studies, studies of the function of the criminal justice system and risk assessments have resulted in improvements in these aspects during recent years. The wide range of services involved in successful initiatives has been addressed, but some crucial aspects still receive too little attention. Differences between countries and cultures have not been emphasized, and the progress that has been achieved seems to be confined to countries with a clear policy and organized services for offenders with intellectual disabilities.

Intellectual impairment in patients with epilepsy in Ile-Ife, Nigeria.

PubMed

Sunmonu, T A; Komolafe, M A; Ogunrin, A O; Oladimeji, B Y; Ogunniyi, A

2008-12-01

Epilepsy is the most common non-infectious neurologic disease in developing countries such as Africa, including Nigeria. This study was designed to assess the intellectual performance of patients with epilepsy (PWE) in Nigeria hoping that the result will serve as the basis for educational, vocational, and social counseling. Forty-one PWE were studied along with 41 age-, sex- and education-matched healthy controls. A questionnaire was developed and applied to all subjects and history was taken from patients and eyewitness. The intellectual function of each subject was assessed with the aid of Wechsler Adult Intelligence Scale adapted for Nigerians. All patients subsequently had electroencephalography (EEG) performed and the EEG findings were noted. SPSS statistical package was used to analyze the data. The PWE performed poorly on the verbal IQ, performance IQ, and full scale IQ scores when compared with controls (P < 0.05) and 20% of PWE had mental retardation. Long duration of epilepsy, long duration of antiepileptic drug therapy, younger age at onset of epilepsy, increased frequency of seizures, and low educational status were found to have negative impacts on intellectual performance in PWE (P < 0.05) while seizure types and type of antiepileptic drugs (carbamazepine or phenytoin) did not influence intellectual performance. This study shows that PWE had significant intellectual impairment when compared with controls. In addition, long duration of epilepsy, long duration of AED therapy, earlier age of onset, increased seizure frequency, and low educational status had a negative impact on intellectual functioning in PWE.

THYROID HORMONE RECEPTOR BETA GENE MUTATION (P453A) IN A TURKISH FAMILY PRODUCING RESISTANCE TO THYROID HORMONE

PubMed Central

Bayraktaroglu, Taner; Noel, Janet; Mukaddes, Nahit Motavalli; Refetoff, Samuel

2018-01-01

Two members of a Turkish family, a mother and son, had thyroid function tests suggestive of resistance to thyroid hormone (RTH). The clinical presentation was, however, different. The mother (proposita) had palpitation, weakness, tiredness, nervousness, dry mouth and was misdiagnosed as having multinodular toxic goiter which was treated with antithyroid drugs and partial thyroidectomy. Her younger son had attention deficit hyperactivity disorder and primary encopresis, but normal intellectual quotient. Both had elevated serum iodothyronine levels with nonsuppressed thyrotropin. A mutation in one allele of the thyroid hormone receptor beta gene (P453A) was identified, providing a genetic confirmation for the diagnosis of RTH. PMID:18561095

Elucidating the Links Between Endocrine Disruptors and Neurodevelopment

PubMed Central

Blawas, Ashley M.; Gray, Kimberly; Heindel, Jerrold J.; Lawler, Cindy P.

2015-01-01

Recent data indicate that approximately 12% of children in the United States are affected by neurodevelopmental disorders, including attention deficit hyperactivity disorder, learning disorders, intellectual disabilities, and autism spectrum disorders. Accumulating evidence indicates a multifactorial etiology for these disorders, with social, physical, genetic susceptibility, nutritional factors, and chemical toxicants acting together to influence risk. Exposure to endocrine-disrupting chemicals during the early stages of life can disrupt normal patterns of development and thus alter brain function and disease susceptibility later in life. This article highlights research efforts and pinpoints approaches that could shed light on the possible associations between environmental chemicals that act on the endocrine system and compromised neurodevelopmental outcomes. PMID:25714811

Genetics Home Reference: Nicolaides-Baraitser syndrome

MedlinePlus

... and moderate to severe intellectual disability with impaired language development. In people with Nicolaides-Baraitser syndrome , the sparse ... normally achieved, but further development is limited, and language development is severely impaired. At least one-third of ...

Prevalence and outcomes of heart transplantation in children with intellectual disability.

PubMed

Wightman, Aaron; Bartlett, Heather L; Zhao, Qianqian; Smith, Jodi M

2017-03-01

Heart transplantation in children with intellectual disability is a controversial issue. We sought to describe the prevalence and outcomes of heart transplantation in children with intellectual disability and hypothesized that recipients with intellectual disability have comparable short-term outcomes compared to recipients without intellectual disability. We performed a retrospective cohort analysis of children receiving a first heart-alone transplant in the UNOS STAR database from 2008 to 2013. Recipients with intellectual disability were compared to those without using chi-square tests. Kaplan-Meier curves were constructed for patient and graft survival. Cox proportional hazard models were used to estimate the association between intellectual disability and graft failure and patient survival. Over the study period, 107 children with intellectual disability underwent initial heart transplantation, accounting for 8.9% of first pediatric heart transplants (total=1204). There was no difference in the incidence of acute rejection between groups in the first year after transplant. Mean functional status scores at follow-up improved in both groups after transplantation, but tended to be lower among children with intellectual disability than children without. Log-rank tests did not suggest significant differences in graft survival between those with and without intellectual disability during the first 4 years following transplantation. Children with intellectual disability constitute a significant portion of total heart transplants with short-term outcomes comparable to children without intellectual disability. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Children with borderline intellectual functioning and autism spectrum disorder: developmental trajectories from 4 to 11 years of age

PubMed Central

Barnevik Olsson, Martina; Holm, Anette; Westerlund, Joakim; Lundholm Hedvall, Åsa; Gillberg, Christopher; Fernell, Elisabeth

2017-01-01

Background Studies on autism have tended to focus either on those with intellectual disability (ie, those with intellectual quotient [IQ] under 70) or on the group that is referred to as “high-functioning”, that is, those with borderline, average or above average IQ. The literature on cognition and daily functioning in autism spectrum disorder combined specifically with borderline intellectual functioning (IQ 70–84) is limited. Methods From a representative group of 208 preschool children diagnosed with autism spectrum disorder, those 50 children in the group with borderline intellectual functioning at ages 4.5–6.5 years were targeted for follow-up at a median age of 10 years. A new cognitive test was carried out in 30 children. Parents were interviewed with a semi-structured interview together with the Vineland Adaptive Behavior Scales (n=41) and the Autism-Tics, attention-deficit/hyperactivity disorder (AD/HD) and other comorbidities inventory (A-TAC) (n=36). Results Most children of interviewed parents presented problems within several developmental areas. According to A-TAC and the clinical interview, there were high rates of attention deficits and difficulties with regulating activity level and impulsivity. Vineland Adaptive Behavior Scales composite scores showed that at school age, a majority of the children had declined since the previous assessment at ages between 4.5 and 6.5 years. Almost half the tested group had shifted in their IQ level, to below 70 or above 84. Conclusion None of the children assessed was without developmental/neuropsychiatric problems at school-age follow-up. The results support the need for comprehensive follow-up of educational, medical and developmental/neuropsychiatric needs, including a retesting of cognitive functions. There is also a need for continuing parent/family follow-up and support. PMID:29042781

Water Arsenic Exposure and Intellectual Function in 6-Year-Old Children in Araihazar, Bangladesh

PubMed Central

Wasserman, Gail A.; Liu, Xinhua; Parvez, Faruque; Ahsan, Habibul; Factor-Litvak, Pam; Kline, Jennie; van Geen, Alexander; Slavkovich, Vesna; LoIacono, Nancy J.; Levy, Diane; Cheng, Zhongqi; Graziano, Joseph H.

2007-01-01

Background We recently reported results of a cross-sectional investigation of intellectual function in 10-year-olds in Bangladesh, who had been exposed to arsenic from drinking water in their home wells. Objectives We present results of a similar investigation of 301 randomly selected 6-year-olds whose parents participated in our ongoing prospective study of the health effects of As exposure in 12,000 residents of Araihazar, Bangladesh. Methods Water As and manganese concentrations of tube wells at each home were obtained by surveying all study region wells. Children and mothers were first visited at home, where the quality of home stimulation was measured, and then seen in our field clinic, where children received a medical examination wherein weight, height, and head circumference were assessed. We assessed children’s intellectual function using subtests drawn from the Wechsler Preschool and Primary Scale of Intelligence, version III, by summing weighted items across domains to create Verbal, Performance, Processing Speed, and Full-Scale raw scores. Children provided urine specimens for measuring urinary As and were asked to provide blood samples for blood lead measurements. Results Exposure to As from drinking water was associated with reduced intellectual function before and after adjusting for water Mn, for blood lead levels, and for sociodemographic features known to contribute to intellectual function. With covariate adjustment, water As remained significantly negatively associated with both Performance and Processing Speed raw scores; associations were less strong than in our previously studied 10-year-olds. Conclusion This second cross-sectional study of As exposure expands our concerns about As neurotoxicity to a younger age group. PMID:17384779

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

PubMed Central

Giannandrea, Maila; Bianchi, Veronica; Mignogna, Maria Lidia; Sirri, Alessandra; Carrabino, Salvatore; D'Elia, Errico; Vecellio, Matteo; Russo, Silvia; Cogliati, Francesca; Larizza, Lidia; Ropers, Hans-Hilger; Tzschach, Andreas; Kalscheuer, Vera; Oehl-Jaschkowitz, Barbara; Skinner, Cindy; Schwartz, Charles E.; Gecz, Jozef; Van Esch, Hilde; Raynaud, Martine; Chelly, Jamel; de Brouwer, Arjan P.M.; Toniolo, Daniela; D'Adamo, Patrizia

2010-01-01

Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions have been described, and mutations have been identified in 83 different genes, encoding proteins with a variety of function, such as chromatin remodeling, synaptic function, and intracellular trafficking. The small GTPases of the RAB family, which play an essential role in intracellular vesicular trafficking, have been shown to be involved in MR. We report here the identification of mutations in the small GTPase RAB39B gene in two male patients. One mutation in family X (D-23) introduced a stop codon seven amino acids after the start codon (c.21C > A; p.Y7X). A second mutation, in the MRX72 family, altered the 5′ splice site (c.215+1G > A) and normal splicing. Neither instance produced a protein. Mutations segregate with the disease in the families, and in some family members intellectual disabilities were associated with autism spectrum disorder, epileptic seizures, and macrocephaly. We show that RAB39B, a novel RAB GTPase of unknown function, is a neuronal-specific protein that is localized to the Golgi compartment. Its downregulation leads to an alteration in the number and morphology of neurite growth cones and a significant reduction in presynaptic buttons, suggesting that RAB39B is required for synapse formation and maintenance. Our results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities. PMID:20159109

Executive function in children with intellectual disability--the effects of sex, level and aetiology of intellectual disability.

PubMed

Memisevic, H; Sinanovic, O

2014-09-01

Executive function is very important in the children's overall development. The goal of this study was to assess the executive function in children with intellectual disability (ID) through the use of the Behavior Rating Inventory of Executive Function (BRIEF) teacher version. An additional goal was to examine the differences in executive function in relation to child's sex, level and aetiology of ID. The sample consisted of 90 children with ID attending two special education schools in Sarajevo, Bosnia and Herzegovina. There were 42 children with mild ID and 48 children with moderate ID. Of those, 54 were boys and 36 were girls. Children were classified into three etiological categories: 30 children with Down syndrome, 30 children with other genetic cause or organic brain injury and 30 children with unknown aetiology of ID. Special education teachers, who knew the children for at least 6 months filled the BRIEF. Children with ID had a significant deficit in executive function as measured by the BRIEF. There were no statistically significant differences in executive function in relation to the child's sex. Level of ID had a significant effect on executive function. In relation to the aetiology of ID, the only significant difference was on the Shift scale of the BRIEF. Knowing what executive function is most impaired in children with ID will help professionals design better intervention strategies. More attention needs to be given to the assessment of executive function and its subsequent intervention in the school settings. © 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Enhancing visual search abilities of people with intellectual disabilities.

PubMed

Li-Tsang, Cecilia W P; Wong, Jackson K K

2009-01-01

This study aimed to evaluate the effects of cueing in visual search paradigm for people with and without intellectual disabilities (ID). A total of 36 subjects (18 persons with ID and 18 persons with normal intelligence) were recruited using convenient sampling method. A series of experiments were conducted to compare guided cue strategies using either motion contrast or additional cue to basic search task. Repeated measure ANOVA and post hoc multiple comparison tests were used to compare each cue strategy. Results showed that the use of guided strategies was able to capture focal attention in an autonomic manner in the ID group (Pillai's Trace=5.99, p<0.0001). Both guided cue and guided motion search tasks demonstrated functionally similar effects that confirmed the non-specific character of salience. These findings suggested that the visual search efficiency of people with ID was greatly improved if the target was made salient using cueing effect when the complexity of the display increased (i.e. set size increased). This study could have an important implication for the design of the visual searching format of any computerized programs developed for people with ID in learning new tasks.

Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy.

PubMed

Lorusso, Maria Luisa; Civati, Federica; Molteni, Massimo; Turconi, Anna Carla; Bresolin, Nereo; D'Angelo, Maria Grazia

2013-01-01

A group of 42 Italian boys with Duchenne Muscular Dystrophy was compared with a control group of 10 boys with Spinal Muscular Atrophy and Osteogenesis Imperfecta on tests assessing general intellectual ability, language, neuropsychological functions, and reading skills with the aim of describing a comprehensive profile of the various functions and investigating their interrelationships. The influence of general intellectual level on performance was analyzed. Further, correlations between various neuropsychological measures and language performances were computed for the group with Duchenne Muscular Dystrophy, as well as the correlations between reading scores and other cognitive and linguistic measures. A general lowering in VIQ, PIQ, and FSIQ scores was found to characterize the group with Duchenne Muscular Dystrophy. Expressive language skills were within the normal range, while syntactic and grammatical comprehension were significantly impaired. The presence of below-average reading performances was further confirmed. However, unlike previous studies on irregular orthographies, the present results show that (a) the mild reading difficulties found in the sample essentially concern speed rather than accuracy; (b) they concern word rather than nonword reading; (c) lower reading performances are related to lower scores in general IQ; (d) no correlations emerge with phonological abilities, verbal short-term memory, or working memory, but rather with long-term memory and lexical skills. This may suggest that language-specific effects modulate the cognitive expressions of Duchenne Muscular Dystrophy and raises the possibility that the dysfunctions underlying the reading difficulties observed in affected readers of regular orthographies involve different neurocognitive systems than the cortico-cerebellar circuits usually invoked.

Association between sarcopenia and higher-level functional capacity in daily living in community-dwelling elderly subjects in Japan.

PubMed

Tanimoto, Yoshimi; Watanabe, Misuzu; Sun, Wei; Sugiura, Yumiko; Tsuda, Yuko; Kimura, Motoshi; Hayashida, Itsushi; Kusabiraki, Toshiyuki; Kono, Koichi

2012-01-01

This study aimed to determine the association between sarcopenia, defined by muscle mass, muscle strength, and physical performance, and higher-level functional capacity in community-dwelling Japanese elderly people. Subjects were 1158 elderly, community-dwelling Japanese people aged 65 or older. We used bioelectrical impedance analysis to measure muscle mass, grip strength to measure muscle strength, and usual walking speed to measure physical performance. Sarcopenia was characterized by low muscle mass, plus low muscle strength or low physical performance. Subjects without low muscle mass, low muscle strength, and low physical performance were classified as "normal." Examination of higher-level functional capacity was performed using the Tokyo Metropolitan Institute of Gerontology Index of Competence (TMIG-IC). The TMIG-IC is a 13-item questionnaire completed by the subject; it contains five questions on self-maintenance and four questions each on intellectual activity and social role. Sarcopenia was identified in 11.3% and 10.7% of men and women, respectively. The percentage of disability for instrumental activities of daily living (IADL) was 39.0% in men with sarcopenia and 30.6% in women with sarcopenia. After adjustment for age, in men, sarcopenia was significantly associated with IADL disability compared with intermediate and normal subjects. In women, sarcopenia was significantly associated with every subscale of the TMIG-IC disability compared with intermediate and normal subjects. This study revealed that sarcopenia, defined by muscle mass, muscle strength, and physical performance, had a significant association with disability in higher-level functional capacity in elderly Japanese subjects. Interventions to prevent sarcopenia may prevent higher-level functional disability among elderly people. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Comparison of Constant Time Delay and Simultaneous Prompting Procedures: Teaching Functional Sight Words to Students with Intellectual Disabilities and Autism Spectrum Disorder

ERIC Educational Resources Information Center

Swain, Rasheeda; Lane, Justin D.; Gast, David L.

2015-01-01

Constant time delay (CTD) and simultaneous prompting (SP) are effective response prompting procedures for teaching students with moderate to severe disabilities. The purpose of this study was to compare the efficiency of CTD and SP when teaching functional sight words to four students, 8-11 years of age, with moderate intellectual disability (ID)…

Motivation to serve in the military influences vulnerability to future posttraumatic stress disorder.

PubMed

Kaplan, Zeev; Weiser, Mark; Reichenberg, Abraham; Rabinowitz, Jonathan; Caspi, Asaf; Bodner, Ehud; Zohar, Joseph

2002-01-31

High motivation and belief in a cause have been reported to be protective against posttraumatic stress disorder (PTSD), while below-average intellectual functioning and poor educational achievements have been reported to increase vulnerability to PTSD. The main goal of this study was to assess the effect of education, and intellectual and behavioral functioning on the risk for future PTSD. Data collected before exposure to trauma, on intellectual and behavioral functioning, and educational achievements of 901 male Israeli adolescents who had performed pre-induction screening tests by the Israeli Draft Board, and were later diagnosed with PTSD, were compared with a control group of adolescents who were not later diagnosed with PTSD. Future PTSD patients had significantly lower intelligence, fewer years of formal education and lower scores on a scale assessing motivation to serve in the military, in comparison with the control group, with effect sizes (ES) ranging from 0.14-0.34. In contrast, future PTSD patients scored significantly higher on a scale assessing social functioning, ES=0.13. However, when controlling for the differences in motivation to serve, all of these differences disappeared. In this cohort, although slightly below average intellectual functioning and formal education, and better social functioning, independently increased vulnerability to suffer from PTSD, these associations disappeared when the future PTSD patients' lower motivation to serve in the military was included in the analysis. This suggests that low motivation to serve in the military might increase vulnerability for PTSD.

Monoamine oxidase a promoter gene associated with problem behavior in adults with intellectual/developmental disabilities.

PubMed

May, Michael E; Srour, Ali; Hedges, Lora K; Lightfoot, David A; Phillips, John A; Blakely, Randy D; Kennedy, Craig H

2009-07-01

A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a gender, ethnicity, and age-matched contrast sample. About 43% (15/35) of adults with intellectual/developmental disabilities and problem behavior possessed the low-efficiency version of the MAOA gene. In comparison, 20% (7/35) of adults with intellectual/developmental disabilities and no problem behavior and 20% (7/35) of the contrast group had the short-allele MAOA polymorphism. Therefore, a common variant in the MAOA gene may be associated with problem behavior in adults with intellectual/developmental disabilities.

A structured physical activity and fitness programme for older adults with intellectual disabilities: results of a cluster-randomised clinical trial.

PubMed

van Schijndel-Speet, M; Evenhuis, H M; van Wijck, R; van Montfort, K C A G M; Echteld, M A

2017-01-01

The physical activity level of older adults with intellectual disabilities (ID) is extremely low, and their fitness levels are far beneath accepted norms for older people with normal intelligence and comparable with frail older people. A physical activity programme, including an education programme, was developed for older adults with ID using behaviour change techniques. The programme aimed at improving or maintaining adequate levels of physical activity (primary outcome measure) and motor fitness, cardio respiratory fitness, morphologic and metabolic fitness, activities of daily living, cognitive functioning and depressive symptoms (secondary outcome measures). The programme's efficacy was evaluated in a cluster-randomised clinical trial among people aged 43 years and over with mild-moderate levels of ID. Five day-activity centres were randomised to the participation group. In these centres, 81 older adults participated in groups of 8 to 10 in the programme, three times a week during 8 months. The programme was executed by physical activity instructors and staff of day-activity centres. Five other day-activity centres were randomised to the control group; 70 older adults in these centres received care as usual. The generalised linear model with mixed effects was used to test the programme's effectiveness. Significant effects were found on physical activity, muscle strength, systolic and diastolic blood pressure, serum cholesterol level and cognitive functioning, in favour of the programme's participants. No significant improvements were found on balance, serum glucose, weight, waist circumference, walking speed, mobility, depression or instrumental activities of daily living. The physical activity and fitness programme has established small but significant effects in this sample, but generalising the findings to other settings is difficult due to significant participant dropout. Implementation of evidence-based physical activity programmes among older adults with ID is recommended. Further research is needed to investigate the effectiveness of physical activity on daily life functioning and the development on chronic diseases in the long run. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Sex Offenders.

ERIC Educational Resources Information Center

Hayes, Susan

1991-01-01

This paper on the problem of sex offending among individuals with intellectual disabilities examines the incidence of this problem, characteristics of intellectually disabled sex offenders, determination of whether the behavior is a paraphilia or functional age-related behavior, and treatment options, with emphasis on the situation in New South…

IQ is an independent predictor of glycated haemoglobin level in young and middle-aged adults with intellectual disability.

PubMed

Yano, T; Miki, T; Itoh, T; Ohnishi, H; Asari, M; Chihiro, S; Yamamoto, A; Aotsuka, K; Kawakami, N; Ichikawa, J; Hirota, Y; Miura, T

2015-01-01

Here we examined whether intellectual disability is independently associated with hyperglycaemia. We recruited 233 consecutive young and middle-aged adults with intellectual disability. After exclusion of subjects on medication for metabolic diseases or with severe intellectual disability (IQ < 35), 121 subjects were divided by IQ into a group with moderate intellectual disability (35 ≤ IQ ≤ 50), a mild intellectual disability group (51 ≤ IQ ≤ 70) and a borderline group (IQ > 70). HbA1c level was higher in subjects with moderate intellectual disability (42 ± 9 mmol/mol; 6.0 ± 0.8%) than those in the borderline group (36 ± 4 mmol/mol; 5.5 ± 0.3%) and mild intellectual disability group (37 ± 5 mmol/mol; 5.5 ± 0.5%) groups. HbA1c level was correlated with age, BMI, blood pressure, serum triglycerides and IQ in simple linear regression analysis. Multiple regression analysis indicated that IQ, age, BMI and diastolic blood pressure were independent explanatory factors of HbA1c level. An unfavourable effect of intellectual disability on lifestyle and untoward effect of hyperglycaemia on cognitive function may underlie the association of low IQ with hyperglycaemia. © 2014 The Authors. Diabetic Medicine © 2014 Diabetes UK.

Inductive reasoning and the understanding of intention in schizophrenia.

PubMed

Corcoran, Rhiannon

2003-08-01

The study explored the relationship between the understanding of intention in veiled speech acts and the ability to reason inductively. A total of 39 people with DSM-IV-defined schizophrenia with no behavioural signs and 44 healthy participants performed the Hinting Task, a measure of pragmatic language in which the speaker's intention must be inferred, and a measure of inductive reasoning (Aha! Sentences) in which the meaning of ambiguous nonsocial sentences had to be inferred. The participants also completed measures of general intellectual ability, immediate memory for narrative and social problem-solving ability. A substantial correlation was found between performance on the inductive reasoning task and the Hinting Task in the sample of people with schizophrenia. The same relationship was not seen in the normal control sample. The robust relationship between these two measures in this sample survived when the roles of immediate memory for narrative and intellectual ability were controlled for. Furthermore, the relationship was distinctly more compelling for the patients who were currently ill compared to those in remission. These data suggest that people with schizophrenia use a different strategy to infer the meaning behind pragmatic language than that used by normally functioning adults. It is suggested that a reliance on different, possibly less specialised, skills in this group to perform this simple social inference task underlies their deficient performance on this and other measures of social inference. The fact that the relationship between the tasks in patients in remission is not as robust implies that the use of specialised skills to perform social inference tasks may be compromised most significantly during acute phases.

Intellectual Profile of Adolescents with Headache: A Case–Control Study Using the WISC-IV

PubMed Central

Chiappedi, Matteo; Mensi, Martina; Antonaci, Eliana; Zavani, Elena; Tronconi, Livio; Termine, Cristiano; Balottin, Umberto

2018-01-01

There are few literature evidences about the intellectual profile of adolescents with headache and no study has used the fourth edition of the Wechsler Intelligence Scale for Children (WISC-IV) in patients with a diagnosis of headache according to the ICHD-III-beta. We recruited 30 patients (age 11–14 years; male:female = 1:2) seen for headache in a tertiary center in Northern Italy and 30 healthy controls matched for age and sex, recruited in a public school from the same geographic area. The diagnosis of headache was done according to the ICHD-III criteria (beta version): the case group was composed of 16 patients with migraine and 14 with tension-type headache. Cognitive functioning was assessed using the WISC-IV. Recruited patients with idiopathic headache diagnosis had on average a cognitive function within the normal range. We found no statistically significant differences in the total Intellective Quotient comparing patients with headache and controls; the Working Memory Index was, however, lower in patients with headache (p = 0.012), and in particular, we found a lower Digit Span (p < 0.001). We also found a borderline statistical difference (p = 0.051) between case and controls Verbal Comprehension Index (CVI), which was due to a lower score in the Similarities subtest (p < 0.001). Our results suggest that, although within normal limits, cognitive functioning of adolescents with headache differs from that of healthy peers regarding memory and verbal skills. The Working Memory Index is related to the subject’s ability to store new information and keep them in short-term memory, to maintain focused attention and to manipulate them to find solutions. The difference in Similarities is also important because it provides a measure of the level of verbal reasoning and concept formation; it is also a measure of verbal abstract thinking skills relevant for language development, lexical knowledge, auditory comprehension, memory, and ability to discriminate between essential and non-essential characteristics. Our data, in keep with previous findings, suggest the need for further researches to better understand the pathogenesis of these difficulties and obtain ideas for an adequate rehabilitative treatment. PMID:29559952

Incidental Learning and Recall in Children.

ERIC Educational Resources Information Center

Fox, Robert A.; And Others

Incidental learning research with mentally retarded children has produced findings inconsistent with those reported for the intellectually normal population. This study was designed to further investigate the efficacy of incidental semantic classification instructions relative to taxonomic classification instructions or superficial color…

Understanding Intellectual Disability through Rasopathies

PubMed Central

Alvaro, San Martín; Rafael, Pagani Mario

2014-01-01

Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP Kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies. PMID:24859216

Understanding intellectual disability through RASopathies.

PubMed

San Martín, Alvaro; Pagani, Mario Rafael

2014-01-01

Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the developmental period. Currently the term intellectual disability is the preferred one. Although our understanding of the physiological basis of learning and learning disability is poor, a general idea is that such condition is quite permanent. However, investigations in animal models suggest that learning disability can be functional in nature and as such reversible through pharmacology or appropriate learning paradigms. A fraction of the cases of intellectual disability is caused by point mutations or deletions in genes that encode for proteins of the RAS/MAP kinase signaling pathway known as RASopathies. Here we examined the current understanding of the molecular mechanisms involved in this group of genetic disorders focusing in studies which provide evidence that intellectual disability is potentially treatable and curable. The evidence presented supports the idea that with the appropriate understanding of the molecular mechanisms involved, intellectual disability could be treated pharmacologically and perhaps through specific mechanistic-based teaching strategies. Copyright © 2014 Elsevier Ltd. All rights reserved.

Students with Intellectual Disabilities Acting as Tutors: An Interpretative Phenomenological Analysis

ERIC Educational Resources Information Center

Borisov, Christine; Reid, Greg

2010-01-01

This study investigated the perceived benefits of five adolescents with an intellectual disability functioning as tutors or teacher assistants in physical education. Their personal experiences and interpretations were ascertained by interviews, video recording, photographs, and field observations. An interpretative phenomenological analysis…

Aggression as Positive Reinforcement in People with Intellectual Disabilities

ERIC Educational Resources Information Center

May, Michael E.

2011-01-01

From an applied behavior-analytic perspective, aggression in people with intellectual disabilities is mostly maintained by social reinforcement consequences. However, nonsocial consequences have also been identified in functional assessments on aggression. Behaviors producing their own reinforcement have been labeled "automatic" or "nonsocial" in…

Comparison of patients with and without intellectual disability under general anesthesia: A retrospective study.

PubMed

Sitilci, T; Demirgan, S; Akcay, C; Kahraman, N; Koseoglu, B G; Erdem, M A; Cankaya, A B

2017-04-01

We analyzed and retrospectively compared patients with and without intellectual disability (ID) who underwent oral surgery under general anesthesia at Istanbul University, Faculty of Dentistry, Department of General Anesthesia, between October 2012 and June 2013 with regard to the following categories: Demographic features, American Society of Anesthesiologists (ASA) classification, Mallampati score, type of anesthetic drug used during the operation, type of intubation used, any difficulties with tracheal intubation, presence of systemic diseases, and recovery times after ending general anesthesia. A total of 348 patients were selected from the Department of Maxillofacial Surgery and the Department of Pedodontics who underwent surgery with general anesthesia. Medical histories of all patients were taken, and their electrocardiography, chest X-rays, complete blood count, and blood clotting tests were checked during a preoperative assessment. Mallampati evaluations were also performed. Patients were grouped into ASA I, II, or III according to the ASA classification and were treated under general anesthesia. There was no significant difference between normal and intellectually disabled patients in terms of gender, Mallampati scores, intubation difficulties, mean anesthetic period, time to discharge, or postoperative nausea and vomiting. Epilepsy and genetic diseases in intellectually disabled patients were significantly more common than in non-ID (NID) patients. However, the frequency of diabetes and chronic obstructive pulmonary disease in NID patients was significantly higher than in the intellectually disabled patients. Dental treatment of intellectually disabled patients under general anesthesia can be performed just as safely as that with NID patients.

Auditory function at 14 years of age of very-low-birthweight.

PubMed

Davis, N M; Doyle, L W; Ford, G W; Keir, E; Michael, J; Rickards, A L; Kelly, E A; Callanan, C

2001-03-01

The aim of the study was to determine audiological function at 14 years of age of very-low-birthweight (VLBW < or = 1500 g) children compared with a cohort of normal birthweight (NBW > 2499 g) children. Participants were consecutive surviving preterm children of birthweight < 1000 g born between 1977 and 1982 (n=86) and of birthweight 1000 to 1500 g born between 1980 and 1982 (n=124) and randomly selected NBW children born between 1981 and 1982 (n=60). Audiometric tests included pure tone audiometry, tympanometry, stapedius muscle reflexes, and measures of central auditory processing. Psychometric tests included measures of IQ, academic achievement, and behaviour. There were no significant differences in rates of hearing impairment, abnormal tympanograms, figure-ground problems, or digit recall between VLBW children and NBW control children. VLBW children had higher rates of some central auditory processing problems, which in turn were associated with poorer intellectual, academic, and behavioural progress.

Loss of Function of KCNC1 is associated with intellectual disability without seizures

PubMed Central

Poirier, Karine; Viot, Géraldine; Lombardi, Laura; Jauny, Clémence; Billuart, Pierre; Bienvenu, Thierry

2017-01-01

p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy. PMID:28145425

Profile of cognitive function in adults with duchenne muscular dystrophy.

PubMed

Ueda, Yukihiko; Suwazono, Shugo; Maedo, Sino; Higuchi, Itsuro

2017-03-01

Several studies have examined intellectual functioning of boys with duchenne muscular dystrophy (DMD). However, little is known about the remaining cognitive weaknesses in adults with DMD. The purpose of this study was to investigate the profile of cognitive functioning that is characteristics of adults with DMD. Twenty-four subscales from the Wechsler Adult Intelligence Scale III (WAIS-III), the Clinical Assessment for Attention (CAT), and the Wechsler Memory Scale Revised (WMS-R) were used to assess participants with DMD (N=15; mean age=30.4years). Scores for Picture Completion, Arithmetic, Matrix Reasoning, Symbol Search, Letter-Number Sequencing, and Digit Span of the WAIS-III; all CAT scores, and Logical Memory and Delayed Logical Memory from the WMS-R were significantly deficient in adults with DMD in comparison to the normal population. The ability to sequentially process auditory and visual information remains impaired in adults with DMD. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

ADHD and Challenging behaviour in People with Intellectual Disability: should we screen for ADHD?

PubMed

Perera, Bhathika; Courtenay, Ken

2017-09-01

People with Intellectual Disability (ID) have cognitive impairments that affect their level of functioning the causes of which are multiple and often unknown. Behavioural difficulties are common among people with ID. Attention Deficit Hyperactivity Disorder (ADHD) is recognised more among people with Intellectual Disability and could be a cause of problem behaviours. Screening and assessing for ADHD in people with ID is difficult because of the paucity of robust assessment tools and diagnostic criteria.

Birth Order Debate Resolved?

ERIC Educational Resources Information Center

Zajonc, R. B.

2001-01-01

Critiques Rodgers et al.'s June 2000 research on the relation between birth order and intelligence, which suggests that it is a methodological illusion. Explains how the intellectual environment and the teaching function (whereby older children tutor younger ones) contribute to the growth of intellectual maturity, the first negatively and the…

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

PubMed

de Lange, Iris M; Helbig, Katherine L; Weckhuysen, Sarah; Møller, Rikke S; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C; Myers, Candace T; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G F; Piard, Juliette; Minassian, Berge A; Nezarati, Marjan M; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H; Koeleman, Bobby P C

2016-12-01

Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible. All mutations were predicted to result in a frameshift or premature stop. 12 out of 14 patients had intractable epilepsy with myoclonic and/or absence seizures, and generalised in 11. Thirteen patients had mild to severe intellectual disability. This female phenotype partially overlaps with the reported male phenotype which consists of more severe intellectual disability, microcephaly, growth retardation, facial dysmorphisms and, less frequently, epilepsy. One female patient showed completely skewed X-inactivation, complete absence of RNA expression in blood and a phenotype similar to male patients. In the six other tested patients, X-inactivation was random, confirmed by a non-significant twofold to threefold decrease of RNA expression in blood, consistent with the expected mosaicism between cells expressing mutant or normal KIAA2022 alleles. Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Cognitive function in Nigerian children with newly diagnosed epilepsy: a preliminary report.

PubMed

Lagunju, Ike Oluwa Abiola; Adeniyi, Yetunde Celia; Olukolade, Gbemi

2016-01-01

Epilepsy has long been associated with cognitive dysfunction and educational underachievement. The purpose of the study was to describe the baseline findings from a larger prospective study. New cases of epilepsy aged 6-16 years seen at a paediatric neurology clinic in Ibadan, Nigeria were evaluated for any evidence of cognitive impairment. Intelligence quotient (IQ) of the participants was measured using the Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV). Scores on cognitive subtests and Full Scale IQ (FSIQ) were computed and association between the subsets scores and seizure variables were calculated. 40 children, 24 males and 16 females were studied and their ages ranged from 6 to 16 years with a mean of 10.8 (SD=3.0) years. Global intellectual functioning as measured by the WISC-IV was in the normal range (FSIQ scores <85) for 52.5% (n = 21) of the participants and the remaining participants (47.5%) scored between the borderline and severe category for intellectual disability. The strongest correlation was between 'caregiver's assessment of school performance' and FSIQ, (r = 0.70; p< 0.001). Age at onset of epilepsy and seizure type had no significant association with scores on the WISC-IV composite scores. There is a high prevalence of significant cognitive dysfunction in Nigerian children with epilepsy, even in the absence of any known brain insult. All children with epilepsy should have routine IQ assessment following diagnosis, in order to allow for early intervention when indicated, and thus, improved outcomes.

The prevalence of developmental dyscalculia in Brazilian public school system.

PubMed

Bastos, José Alexandre; Cecato, Angela Maria Traldi; Martins, Marielza Regina Ismael; Grecca, Kelly Regina Risso; Pierini, Rafael

2016-03-01

The goal of the study was to assess public school children at the end of the first stage of elementary school. We used a protocol applied concurrently with a writing test in the form of an unexpected activity in 28 public schools; 2,893 children assessed, 687 exhibited performance below 58 points, 184 were excluded due to change of address or lack of consent; 503 children subjected to a test of intellectual capacity and reading assessment and 71 considered intellectually disabled were excluded. 226 (7.8%) children, who could read, write, and had normal intellectual level, met the criteria of developmental dyscalculia (DD), 98 female and 128 male. The most influential factors in the prevalence were socioeconomic levels of the schools neighborhood, education level of parents, and being male, as demonstrated by the odds ratio and multiple logistic regression analysis. Further studies should be done so that educational policies are taken.

Preserved, deteriorated, and premorbidly impaired patterns of intellectual ability in schizophrenia.

PubMed

Ammari, Narmeen; Heinrichs, R Walter; Pinnock, Farena; Miles, Ashley A; Muharib, Eva; McDermid Vaz, Stephanie

2014-05-01

The main purpose of this investigation was to identify patterns of intellectual performance in schizophrenia patients suggesting preserved, deteriorated, and premorbidly impaired ability, and to determine clinical, cognitive, and functional correlates of these patterns. We assessed 101 patients with schizophrenia or schizoaffective disorder and 80 non-psychiatric control participants. The "preserved" performance pattern was defined by average-range estimated premorbid and current IQ with no evidence of decline (premorbid-current IQ difference <10 points). The "deteriorated" pattern was defined by a difference between estimated premorbid and current IQ estimates of 10 points or more. The premorbidly "impaired" pattern was defined by below average estimated premorbid and current IQ and no evidence of decline greater than 10 points. Preserved and deteriorated patterns in healthy controls were also identified and studied in comparison to patient findings. The groups were compared on demographic, neurocognitive, clinical and functionality variables. Patients with the preserved pattern outperformed those meeting criteria for deteriorated and compromised intellectual ability on a composite measure of neurocognitive ability as well as in terms of functional competence. Patients demonstrating the deteriorated and compromised patterns were equivalent across all measures. However, "preserved" patients failed to show any advantage in terms of community functioning and demonstrated cognitive impairments relative to control participants. Our results suggest that proposed patterns of intellectual decline and stability exist in both the schizophrenia and general populations, but may not hold true across other cognitive abilities and do not translate into differential functional outcome.

Learning disabilities and intellectual functioning in school-aged children with prenatal cocaine exposure.

PubMed

Morrow, Connie E; Culbertson, Jan L; Accornero, Veronica H; Xue, Lihua; Anthony, James C; Bandstra, Emmalee S

2006-01-01

Risk for developing a learning disability (LD) or impaired intellectual functioning by age 7 was assessed in full-term children with prenatal cocaine exposure drawn from a cohort of 476 children born full term and enrolled prospectively at birth. Intellectual functioning was assessed using the Wechsler Intelligence Scale for Children-Third Edition (Wechsler, 1991) short form, and academic functioning was assessed using the Wechsler Individual Achievement Test (WIAT; Wechsler, 1993) Screener by examiners blind to exposure status. LDs were categorized based on ability-achievement discrepancy scores, using the regression-based predicted achievement method described in the WIAT manual. The sample in this report included 409 children (212 cocaine-exposed, 197 non-cocaine-exposed) from the birth cohort with available data. Cumulative incidence proportions and relative risk values were estimated using STATA software (Statacorp, 2003). No differences were found in the estimate of relative risk for impaired intellectual functioning (IQ below 70) between children with and without prenatal cocaine exposure (estimated relative risk = .95; 95% confidence interval [CI] = 0.65, 1.39; p = .79). The cocaine-exposed children had 2.8 times greater risk of developing a LD by age 7 than non-cocaine-exposed children (95% CI = 1.05, 7.67; p = .038; IQ >/= 70 cutoff). Results remained stable with adjustment for multiple child and caregiver covariates, suggesting that children with prenatal cocaine exposure are at increased risk for developing a learning disability by age 7 when compared to their non-cocaine-exposed peers.

Learning Disabilities and Intellectual Functioning in School-Aged Children With Prenatal Cocaine Exposure

PubMed Central

Morrow, Connie E.; Culbertson, Jan L.; Accornero, Veronica H.; Xue, Lihua; Anthony, James C.; Bandstra, Emmalee S.

2009-01-01

Risk for developing a learning disability (LD) or impaired intellectual functioning by age 7 was assessed in full-term children with prenatal cocaine exposure drawn from a cohort of 476 children born full term and enrolled prospectively at birth. Intellectual functioning was assessed using the Wechsler Intelligence Scale for Children–Third Edition (Wechsler,1991) shortform, and academic functioning was assessed using the Wechsler Individual Achievement Test (WIAT; Wechsler,1993) Screener by examiners blind to exposure status. LDs were categorized based on ability-achievement discrepancy scores, using the regression-based predicted achievement method described in the WIAT manual. The sample in this report included 409 children (212 cocaine-exposed, 197 non-cocaine-exposed) from the birth cohort with available data. Cumulative incidence proportions and relative risk values were estimated using STATA software (Statacorp, 2003). No differences were found in the estimate of relative risk for impaired intellectual functioning (IQ below 70) between children with and without prenatal cocaine exposure (estimated relative risk = .95;95%confidence interval [CI] = 0.65,1.39; p = .79). The cocaine-exposed children had 2.8 times greater risk of developing a LD by age 7 than non-cocaine-exposed children (95%CI = 1.05,7.67; p = .038; IQ ≥ 70 cutoff). Results remained stable with adjustment for multiple child and care-giver covariates, suggesting that children with prenatal cocaine exposure are at increased risk for developing a learning disability by age 7 when compared to their non-cocaine-exposed peers. PMID:17083299

Genetics Home Reference: DNMT3A overgrowth syndrome

MedlinePlus

... eyes (narrowed palpebral fissures). Additionally, the upper front teeth are often larger than normal. Intellectual disability in DNMT3A overgrowth syndrome ranges from mild to severe. Individuals may have features of autism spectrum disorder , which are characterized by impaired communication ...

Teaching individuals with intellectual disability to email across multiple device platforms.

PubMed

Cihak, David F; McMahon, Donald; Smith, Cate C; Wright, Rachel; Gibbons, Melinda M

2014-11-20

The purpose of this study was to examine the use of email by people with intellectual disability across multiple technological devices or platforms. Four individuals with intellectual disability participated in this study. Participants were taught how to access and send an email on a Windows desktop computer, laptop, and an iPad tablet device. Results indicated a functional relation. All participants acquired and generalized sending and receiving an email from multiple platforms. Conclusions are discussed about the importance of empowering people with intellectual disability by providing multiple means of expression, including the ability to communicate effectively using a variety of devices. Copyright © 2014 Elsevier Ltd. All rights reserved.

[Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly].

PubMed

Coronado, R; Macaya Ruíz, A; Giraldo Arjonilla, J; Roig-Quilis, M

2015-08-01

Our aim was to investigate the correlations between patterns of head growth and intellectual disability among distinct aetiological presentations of microcephaly. 3,269 head circumference (HC) charts of patients from a tertiary neuropediatric unit were reviewed and 136 microcephalic participants selected. Using the Z-scores of registered HC measurements we defined the variables: HC Minimum, HC Drop and HC Catch-up. We classified patients according to the presence or absence of intellectual disability (IQ below 71) and according to the cause of microcephaly (idiopathic, familial, syndromic, symptomatic and mixed). Using Discriminant Analysis a C-function was defined as C=HC Minimum + HC Drop with a cut-off level of C=-4.32 Z-score. In our sample 95% of patients scoring below this level, severe microcephaly, were classified in the disabled group while the overall concordance was 66%. In the symptomatic-mixed group the concordance between HC function and outcome reached 82% in contrast to only 54% in the idiopathic-syndromic group (P-value=0.0002). We defined a HC growth function which discriminates intellectual disability of microcephalic patients better than isolated HC measurements, especially for those with secondary and mixed aetiologies. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

PubMed Central

Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S.; Saitsu, Hirotomo; Nakamura, Kazuyuki; Santoni, Federico A.; Miyatake, Satoko; Nakashima, Mitsuko; Issa, Mahmoud Y.; Guipponi, Michel; Letourneau, Audrey; Logan, Clare V.; Roberts, Nicola; Parry, David A.; Johnson, Colin A.; Matsumoto, Naomichi; Hamamy, Hanan; Sheridan, Eamonn; Kinoshita, Taroh; Antonarakis, Stylianos E.; Murakami, Yoshiko

2016-01-01

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial features, and multiple organ anomalies. These symptoms are caused by the decreased surface expression of GPI-APs or by structural abnormalities of GPI. Here, we present five affected individuals (from two consanguineous families from Egypt and Pakistan and one non-consanguineous family from Japan) who show intellectual disability, hypotonia, and early-onset seizures. We identified pathogenic variants in PIGG, a gene in the GPI pathway. In the consanguineous families, homozygous variants c.928C>T (p.Gln310∗) and c.2261+1G>C were found, whereas the Japanese individual was compound heterozygous for c.2005C>T (p.Arg669Cys) and a 2.4 Mb deletion involving PIGG. PIGG is the enzyme that modifies the second mannose with ethanolamine phosphate, which is removed soon after GPI is attached to the protein. Physiological significance of this transient modification has been unclear. Using B lymphoblasts from affected individuals of the Egyptian and Japanese families, we revealed that PIGG activity was almost completely abolished; however, the GPI-APs had normal surface levels and normal structure, indicating that the pathogenesis of PIGG deficiency is not yet fully understood. The discovery of pathogenic variants in PIGG expands the spectrum of IGDs and further enhances our understanding of this etiopathogenic class of intellectual disability. PMID:26996948

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

PubMed

Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; Nakamura, Kazuyuki; Santoni, Federico A; Miyatake, Satoko; Nakashima, Mitsuko; Issa, Mahmoud Y; Guipponi, Michel; Letourneau, Audrey; Logan, Clare V; Roberts, Nicola; Parry, David A; Johnson, Colin A; Matsumoto, Naomichi; Hamamy, Hanan; Sheridan, Eamonn; Kinoshita, Taroh; Antonarakis, Stylianos E; Murakami, Yoshiko

2016-04-07

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and transport of GPI-anchored proteins (GPI-APs). To date, mutations in 13 of these genes are known to cause inherited GPI deficiencies (IGDs), and all are inherited as recessive traits. IGDs mainly manifest as intellectual disability, epilepsy, coarse facial features, and multiple organ anomalies. These symptoms are caused by the decreased surface expression of GPI-APs or by structural abnormalities of GPI. Here, we present five affected individuals (from two consanguineous families from Egypt and Pakistan and one non-consanguineous family from Japan) who show intellectual disability, hypotonia, and early-onset seizures. We identified pathogenic variants in PIGG, a gene in the GPI pathway. In the consanguineous families, homozygous variants c.928C>T (p.Gln310(∗)) and c.2261+1G>C were found, whereas the Japanese individual was compound heterozygous for c.2005C>T (p.Arg669Cys) and a 2.4 Mb deletion involving PIGG. PIGG is the enzyme that modifies the second mannose with ethanolamine phosphate, which is removed soon after GPI is attached to the protein. Physiological significance of this transient modification has been unclear. Using B lymphoblasts from affected individuals of the Egyptian and Japanese families, we revealed that PIGG activity was almost completely abolished; however, the GPI-APs had normal surface levels and normal structure, indicating that the pathogenesis of PIGG deficiency is not yet fully understood. The discovery of pathogenic variants in PIGG expands the spectrum of IGDs and further enhances our understanding of this etiopathogenic class of intellectual disability. Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Specific Intellectual Deficits in Children with Early Onset Diabetes Mellitus.

ERIC Educational Resources Information Center

Rovet, Joanne F.; And Others

1988-01-01

Compares 27 children with early onset diabetes (EOD) with 24 children with late onset diabetes (LOD) and 30 sibling controls in performance on tests of intellectual functioning and school achievement. Results revealed that duration of illness, age of onset, and hypoglycemic convulsions significantly predicted spatial ability. (Author/RWB)

Household Work Complexity, Intellectual Functioning, and Self-Esteem in Men and Women

ERIC Educational Resources Information Center

Caplan, Leslie J.; Schooler, Carmi

2006-01-01

Using data from a U.S. longitudinal investigation of psychological effects of occupational conditions (a project of the National Institute of Mental Health's unit on Socioenvironmental Studies), we examined the relationship between the complexity of household work and 2 psychological variables: intellectual flexibility and self-esteem.…

THE DEUTSCH MODEL--INSTITUTE FOR DEVELOPMENTAL STUDIES.

ERIC Educational Resources Information Center

New York Univ., NY. Inst. for Developmental Studies.

THE DEUTSCH INTERVENTION MODEL IS BASED ON THE THEORY THAT ENVIRONMENT PLAYS A MAJOR ROLE IN THE DEVELOPMENT OF COGNITIVE SKILLS AND OF FUNCTIONAL USE OF INTELLECTUAL CAPABILITIES. DISADVANTAGED CHILDREN HAVE INTELLECTUAL DEFICITS WHICH MAY BE OVERCOME BY USE OF MATCHED REMEDIAL MEASURES. LANGUAGE SKILLS AND MOTIVATION CAN BE IMPROVED BY TEACHING…

Thriving in Youth with Autism Spectrum Disorder and Intellectual Disability

ERIC Educational Resources Information Center

Weiss, Jonathan A.; Burnham Riosa, Priscilla

2015-01-01

Most research on mental health in individuals with autism spectrum disorder (ASD) and intellectual disability (ID) has focused on deficits. We examined individual (i.e., sociocommunicative skills, adaptive behavior, functional cognitive skills) and contextual (i.e., home, school, and community participation) correlates of thriving in 330 youth…

Codification of Intratest Scatter on the Wechsler Intelligence Scales: Critique and Proposed Methodology

ERIC Educational Resources Information Center

Juni, Samuel; Trobliger, Robert

2009-01-01

The analysis of response inconsistency is a crucial aspect of intellectual and clinical psychological assessment. Erratic patterns of failures and successes across and within particular domains qualify the measurement of intellectual potential and functioning. Although the interpretation of intertest scatter (inconsistencies between subtest…

Intellectual Abilities Among Survivors of Childhood Leukaemia as a Function of CNS Irradiation

ERIC Educational Resources Information Center

Eiser, Christine

1978-01-01

Available from: British Medical Journal, 1172 Commonwealth Avenue, Boston, Massachusetts 02134. In order to determine whether Central Nervous System irradiation effects intellectual abilities, 28 children in remission at least 2 years after completing chemotherapy for acute lymphoblastic leukemia were assessed on standardized psychological tests…

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11.

PubMed

Salvador-Carulla, Luis; Reed, Geoffrey M; Vaez-Azizi, Leila M; Cooper, Sally-Ann; Martinez-Leal, Rafael; Bertelli, Marco; Adnams, Colleen; Cooray, Sherva; Deb, Shoumitro; Akoury-Dirani, Leyla; Girimaji, Satish Chandra; Katz, Gregorio; Kwok, Henry; Luckasson, Ruth; Simeonsson, Rune; Walsh, Carolyn; Munir, Kemir; Saxena, Shekhar

2011-10-01

Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.

A neurodevelopmental approach to understanding memory processes among intellectually gifted youth with attention-deficit hyperactivity disorder.

PubMed

Whitaker, Ashley M; Bell, Terece S; Houskamp, Beth M; O'Callaghan, Erin T

2015-01-01

Intellectual giftedness is associated with strong strategic verbal memory while attention-deficit hyperactivity disorder (ADHD) is associated with strategic verbal memory deficits; however, no previous research has explored how this contradiction manifests in gifted populations with diagnoses of ADHD. The purpose of this study was to explore strategic verbal memory processes among intellectually gifted youth with and without ADHD to provide clarification regarding this specific aspect of neuropsychological functioning within this population. One hundred twenty-five youth completed neuropsychological evaluations including the Wechsler Intelligence Scale for Children-Fourth Edition and California Verbal Learning Test-Children's Version (CVLT-C). Results revealed significant differences between groups, with intellectually gifted youth with ADHD achieving lower T scores on CVLT-C Trials 1 through 5 compared with intellectually gifted youth without ADHD, and intellectually gifted youth with ADHD achieving higher T scores than youth of average intellectual abilities with ADHD. Additionally, repeated-measures analysis of variance revealed a main effect improvement among gifted youth with ADHD in short-delay recall when provided with organizational cues. Findings revealed new evidence about the role of twice exceptionality (specifically intellectual giftedness and ADHD) in strategic verbal memory and have important implications for parents, educators, psychologists and neuropsychologists, and other mental health professionals working with this population.

Cultural and Intellectual Openness Differentially Relate to Social Judgments of Potential Work Partners.

PubMed

Porter, Caitlin M; Parrigon, Scott E; Woo, Sang Eun; Saef, Rachel M; Tay, Louis

2017-10-01

This study investigates the differential functioning of cultural and intellectual openness (the two aspects of Openness to Experience) in relation to social cognitive processes by examining how they influence people's perceptions and interpretations of social information when deciding to initiate working relationships. Using a policy-capturing design, 681 adult participants were asked to rate their similarity to and preference to work with potential work partners characterized by varying nationalities and levels of work-related competence. Multilevel moderated mediation was conducted to simultaneously evaluate whether the indirect effects of potential work partners' characteristics (i.e., nationalities and levels of work-related competence) on work partner preference through perceived similarity were moderated by cultural and intellectual openness. Perceived similarity mediated the relationships between work partner nationality and work-related competence and participants' work partner preferences. Furthermore, the negative indirect effect of work partner nationality on work partner preference via perceived similarity was attenuated by cultural openness, and the positive indirect effect of work partner work-related competence on work partner preference via perceived similarity was strengthened by intellectual openness. Cultural and intellectual openness may have distinct functions that influence how people perceive, evaluate, and appreciate social information when making social judgments. © 2016 Wiley Periodicals, Inc.

Copy number variations in Saudi family with intellectual disability and epilepsy.

PubMed

Naseer, Muhammad I; Chaudhary, Adeel G; Rasool, Mahmood; Kalamegam, Gauthaman; Ashgan, Fai T; Assidi, Mourad; Ahmed, Farid; Ansari, Shakeel A; Zaidi, Syed Kashif; Jan, Mohammed M; Al-Qahtani, Mohammad H

2016-10-17

Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2, GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127-4337759) and the potential gene in this region is CSMD1 (OMIM: 612279). Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR. We found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing epileptic disorder, may help to improve the clinical management of individual cases in decreasing the burden of epilepsy in Saudi Arabia.

Language in low-functioning children with autistic disorder: differences between receptive and expressive skills and concurrent predictors of language.

PubMed

Maljaars, Jarymke; Noens, Ilse; Scholte, Evert; van Berckelaer-Onnes, Ina

2012-10-01

Language profiles of children with autistic disorder and intellectual disability (n = 36) were significantly different from the comparison groups of children with intellectual disability (n = 26) and typically developing children (n = 34). The group low-functioning children with autistic disorder obtained a higher mean score on expressive than on receptive language, whereas both comparison groups showed the reverse pattern. Nonverbal mental age, joint attention, and symbolic understanding of pictures were analyzed in relation to concurrent receptive and expressive language abilities. In the group with autistic disorder and intellectual disability, symbol understanding and joint attention were most strongly related to language abilities. Nonverbal mental age was the most important predictor of language abilities in the comparison groups.

Synaptic dysfunction and intellectual disability.

PubMed

Valnegri, Pamela; Sala, Carlo; Passafaro, Maria

2012-01-01

Intellectual disability (ID) is a common and highly heterogeneous paediatric disorder with a very severe social impact. Intellectual disability can be caused by environmental and/or genetic factors. Although in the last two decades a number of genes have been discovered whose mutations cause mental retardation, we are still far from identifying the impact of these mutations on brain functions. Many of the genes mutated in ID code for several proteins with a variety of functions: chromatin remodelling, pre-/post-synaptic activity, and intracellular trafficking. The prevailing hypothesis suggests that the ID phenotype could emerge from abnormal cellular processing leading to pre- and/or post-synaptic dysfunction. In this chapter, we focus on the role of small GTPases and adhesion molecules, and we discuss the mechanisms through which they lead to synaptic network dysfunction.

Executive functions and Prader-Willi syndrome: global deficit linked with intellectual level and syndrome-specific associations.

PubMed

Chevalère, Johann; Postal, Virginie; Jauregui, Joseba; Copet, Pierre; Laurier, Virginie; Thuilleaux, Denise

2015-05-01

The aim of this study was to support the growing evidence suggesting that Prader-Willi Syndrome (PWS) might present with an impairment of executive functions (EFs) and to investigate whether this impairment is specific to patients with PWS or due to their intellectual disability (ID). Six tasks were administered to assess EFs (inhibition, switching, updating, cognitive estimation, and planning) to 17 patients with PWS and 17 age-matched healthy individuals. Performance was significantly impaired in the PWS group on all EFs and after controlling for IQ level, intergroup differences remained only for switching and cognitive estimation. In conclusion, PWS seems to be associated with a global impairment of EFs that appears to be closely linked with intellectual impairment but also with the PWS itself.

Pedophiles: mental retardation, maternal age, and sexual orientation.

PubMed

Blanchard, R; Watson, M S; Choy, A; Dickey, R; Klassen, P; Kuban, M; Ferren, D J

1999-04-01

Intellectual functioning, parental age, and sexual orientation in 991 male sexual offenders were investigated. Sources of data included semistructured interviews, clinical charts, phallometric tests, and self-administered questionnaires. The results suggest two main conclusions: (i) Among pedophiles in general, erotic preference moves away from adult women along two dimensions: age and sex. The extent of this movement is greater, along both dimensions, for pedophiles with lower levels of intellectual functioning. (ii) High maternal age (or some factor it represents) increases the likelihood of exclusive sexual interest in boys. Intellectual deficiency (or some factor it represents) decreases the likelihood of exclusive sexual interest in girls. These two factors summate, so that a pedophile with both factors is more likely to be sexually interested in boys than a pedophile with only one.

[Screening for intellectual disability among adults].

PubMed

Søndenaa, Erik; Linaker, Olav; Bjørgen, Tale Gjertine; Nøttestad, Jim Aage

2010-08-12

Instigation of proper measures in case of intellectual disability is often conditioned by a diagnosis. Our aim was to assess whether the Hayes Ability Screening Index (HASI) is a suitable screening instrument for intellectual disability among adults. The article is based on three former studies aimed at validating HASI for use among patients referred for neuropsychological examination, prison inmates and psychiatric inpatients in community mental health centres. The sample consisted of 264 persons. The HASI correlated with the more comprehensive scales of assessing intellectual functioning (Wechsler tests) (r = 0.73, p < 0.001). With a cut-off value of 85, HASI had a sensitivity of 0.97 and a specificity of 0.61 in relation to an IQ < 70. HASI is associated with few false negatives, but a large number of false positives. This implies that an intellectual disability is concluded in too many cases; a positive screening should be followed up with a more thorough assessment.

The experience of adult children of mothers with intellectual disability: A qualitative retrospective study from Poland.

PubMed

Wołowicz-Ruszkowska, Agnieszka; McConnell, David

2017-05-01

Little is known about the experience of growing up with a mother with intellectual disability. The aim of this study was to explore this experience from the perspective of adult children. In-depth interviews with 23 adult children brought up by mothers with moderate-to-severe intellectual disability. The interview data were analysed using grounded theory methods. The childhood experiences of the interviewees and the role their mothers played in their upbringing varied, depending in part on the involvement of extended family. It was the stigma of maternal intellectual disability, rather than their mother's functional limitations, that posed the greatest challenge. Interviewees characterized their mothers and childhoods as different, yet ordinary. Understanding the social context, including but not limited to the availability of informal support, is critical to understanding the experience of children growing up with mothers with intellectual disability. © 2017 John Wiley & Sons Ltd.

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.

PubMed

Won, Hyejung; Lee, Hye-Ryeon; Gee, Heon Yung; Mah, Won; Kim, Jae-Ick; Lee, Jiseok; Ha, Seungmin; Chung, Changuk; Jung, Eun Suk; Cho, Yi Sul; Park, Sae-Geun; Lee, Jung-Soo; Lee, Kyungmin; Kim, Daesoo; Bae, Yong Chul; Kaang, Bong-Kiun; Lee, Min Goo; Kim, Eunjoon

2012-06-13

Autism spectrum disorder (ASD) is a group of conditions characterized by impaired social interaction and communication, and restricted and repetitive behaviours. ASD is a highly heritable disorder involving various genetic determinants. Shank2 (also known as ProSAP1) is a multi-domain scaffolding protein and signalling adaptor enriched at excitatory neuronal synapses, and mutations in the human SHANK2 gene have recently been associated with ASD and intellectual disability. Although ASD-associated genes are being increasingly identified and studied using various approaches, including mouse genetics, further efforts are required to delineate important causal mechanisms with the potential for therapeutic application. Here we show that Shank2-mutant (Shank2(-/-)) mice carrying a mutation identical to the ASD-associated microdeletion in the human SHANK2 gene exhibit ASD-like behaviours including reduced social interaction, reduced social communication by ultrasonic vocalizations, and repetitive jumping. These mice show a marked decrease in NMDA (N-methyl-D-aspartate) glutamate receptor (NMDAR) function. Direct stimulation of NMDARs with D-cycloserine, a partial agonist of NMDARs, normalizes NMDAR function and improves social interaction in Shank2(-/-) mice. Furthermore, treatment of Shank2(-/-) mice with a positive allosteric modulator of metabotropic glutamate receptor 5 (mGluR5), which enhances NMDAR function via mGluR5 activation, also normalizes NMDAR function and markedly enhances social interaction. These results suggest that reduced NMDAR function may contribute to the development of ASD-like phenotypes in Shank2(-/-) mice, and mGluR modulation of NMDARs offers a potential strategy to treat ASD.

Increased Training Intensity Induces Proper Membrane Localization of Actin Remodeling Proteins in the Hippocampus Preventing Cognitive Deficits: Implications for Fragile X Syndrome.

PubMed

Martinez, L A; Tejada-Simon, Maria Victoria

2018-06-01

Behavioral intervention therapy has proven beneficial in the treatment of autism and intellectual disabilities (ID), raising the possibility of certain changes in molecular mechanisms activated by these interventions that may promote learning. Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by autistic features and intellectual disability and can serve as a model to examine mechanisms that promote learning. FXS results from mutations in the fragile X mental retardation 1 gene (Fmr1) that prevents expression of the Fmr1 protein (FMRP), a messenger RNA (mRNA) translation regulator at synapses. Among many other functions, FMRP organizes a complex with the actin cytoskeleton-regulating small Rho GTPase Rac1. As in humans, Fmr1 KO mice lacking FMRP display autistic-like behaviors and deformities of actin-rich synaptic structures in addition to impaired hippocampal learning and synaptic plasticity. These features have been previously linked to proper function of actin remodeling proteins that includes Rac1. An important step in Rac1 activation and function is its translocation to the membrane, where it can influence synaptic actin cytoskeleton remodeling during hippocampus-dependent learning. Herein, we report that Fmr1 KO mouse hippocampus exhibits increased levels of membrane-bound Rac1, which may prevent proper learning-induced synaptic changes. We also determine that increasing training intensity during fear conditioning (FC) training restores contextual memory in Fmr1 KO mice and reduces membrane-bound Rac1 in Fmr1 KO hippocampus. Increased training intensity also results in normalized long-term potentiation in hippocampal slices taken from Fmr1 KO mice. These results point to interventional treatments providing new therapeutic options for FXS-related cognitive dysfunction.

Behavioral characterization of cereblon forebrain-specific conditional null mice: A model for human non-syndromic intellectual disability

PubMed Central

Rajadhyaksha, Anjali M.; Ra, Stephen; Kishinevsky, Sarah; Lee, Anni S.; Romanienko, Peter; DuBoff, Mariel; Yang, Chingwen; Zupan, Bojana; Byrne, Maureen; Daruwalla, Zeeba R.; Mark, Willie; Kosofsky, Barry E.; Toth, Miklos; Higgins, Joseph J.

2018-01-01

A nonsense mutation in the human cereblon gene (CRBN) causes a mild type of autosomal recessive non-syndromic intellectual disability (ID). Animal studies show that crbn is a cytosolic protein with abundant expression in the hippocampus (HPC) and neocortex (CTX). Its diverse functions include the developmental regulation of ion channels at the neuronal synapse, the mediation of developmental programs by ubiquitination, and a target for herpes simplex type I virus in HPC neurons. To test the hypothesis that anomalous CRBN expression leads to HPC-mediated memory and learning deficits, we generated germ-line crbn knock-out mice (crbn−/−). We also inactivated crbn in forebrain neurons in conditional knock-out mice in which crbn exons 3 and 4 are deleted by cre recombinase under the direction of the Ca2+/calmodulin-dependent protein kinase II alpha promoter (CamKIIcre/+, crbn−/−). crbn mRNA levels were negligible in the HPC, CTX, and cerebellum (CRBM) of the crbn−/− mice. In contrast, crbn mRNA levels were reduced 3- to 4-fold in the HPC, CTX but not in the CRBM in CamKIIcre/+, crbn−/− mice as compared to wild type (CamKIIcre/+, crbn+/+). Contextual fear conditioning showed a significant decrease in the percentage of freezing time in CamKIIcre/+, crbn−/− and crbn−/− mice while motor function, exploratory motivation, and anxiety-related behaviors were normal. These findings suggest that CamKIIcre/+, crbn−/− mice exhibit selective HPC-dependent deficits in associative learning and supports the use of these mice as in vivo models to study the functional consequences of CRBN aberrations on memory and learning in humans. PMID:21995942

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].

PubMed

Laczmańska, Izabela; Jakubiak, Aleksandra; Slęzak, Ryszard; Pesz, Karolina; Stembalska, Agnieszka; Laczmański, Lukasz; Sąsiadek, Maria M; Smigiel, Robert

2011-01-01

Developmental delay and intellectual disability are significant medical and social problems which concern 1-3% of population. The etiology remains unknown in over half of the cases. To evaluate the efficiency of MLPA (Multiplex Ligation-dependent Probe Amplification) as a screening test in diagnosis of patients with developmental delay and/or intellectual disability. 313 MLPA tests were performed in 256 patients with developmental delay and/ or intellectual disability with unknown etiology. MLPA test was made after exclusion of genetic disorders possible to diagnose by dysmorphological examination or using specifi c genetic tests. Positive results were confirmed by FISH analysis with appropriate probes. Chromosomal microaberrations were identifi ed in 15 patients (4,8%): deletions of 1p36 in 4 cases, in one case deletion of 22q11.21, 22q13.33, SNRPN1, 4ptel, 6qtel, 7q11.23, 16ptel, 18qtel as well as one ca se of deletion 3ptel/duplication 15qtel; deletion 18qtel/duplication Xqtel, and also duplication 7q11.23. Detail clinical analysis was performed in patients with diagnosed microaberrations in MLPA test. The molecular MLPA test, screening for chromosomal microaberration syndromes, should be performed in each patient with developmental delay and/or intellectual disability of unknown etiology and normal cytogenetic analysis, even if congenital defects and positive familial history do not exist.

Social cognition dysfunction in adolescents with 22q11.2 deletion syndrome (velo-cardio-facial syndrome): relationship with executive functioning and social competence/functioning.

PubMed

Campbell, L E; McCabe, K L; Melville, J L; Strutt, P A; Schall, U

2015-09-01

Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship between social functioning and more basic processes of social cognition and executive functioning are not well understood in 22q11DS. The present study examined the relationship between social-cognitive measures of emotion attribution and theory of mind with executive functioning and their contribution to social competence in 22q11DS. The present cross-sectional study measured social cognition and executive performance of 24 adolescents with 22q11DS compared with 27 age-matched typically developing controls. Social cognition was tested using the emotion attribution task (EAT) and a picture sequencing task (PST), which tested mentalising (false-belief), sequencing, cause and effect, and inhibition. Executive functioning was assessed using computerised versions of the Tower of London task and working memory measures of spatial and non-spatial ability. Social competence was also assessed using the parent-reported Strengths and Difficulties Questionnaire. Adolescents with 22q11DS showed impaired false-belief, emotion attribution and executive functioning compared with typically developing control participants. Poorer performance was reported on all story types in the PST, although, patterns of errors and response times across story types were similar in both groups. General sequencing ability was the strongest predictor of false-belief, and performance on the false-belief task predicted emotion attribution accuracy. Intellectual functioning, rather than theory of mind or executive functioning, predicted social competence in 22q11DS. Performance on social-cognitive tasks of theory of mind indicate evidence of a general underlying dysfunction in 22q11DS that includes executive ability to understand cause and effect, to logically reason about social scenarios and also to inhibit responses to salient, but misleading cues. However, general intellectual ability is closely related to actual social competence suggesting that a generalised intellectual deficit coupled with more specific executive impairments may best explain poor social cognition in 22q11DS. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

PubMed Central

Tucci, Valter; Kleefstra, Tjitske; Hardy, Andrea; Heise, Ines; Maggi, Silvia; Willemsen, Marjolein H.; Hilton, Helen; Esapa, Chris; Simon, Michelle; Buenavista, Maria-Teresa; McGuffin, Liam J.; Vizor, Lucie; Dodero, Luca; Tsaftaris, Sotirios; Romero, Rosario; Nillesen, Willy N.; Vissers, Lisenka E.L.M.; Kempers, Marlies J.; Vulto-van Silfhout, Anneke T.; Iqbal, Zafar; Orlando, Marta; Maccione, Alessandro; Lassi, Glenda; Farisello, Pasqualina; Contestabile, Andrea; Tinarelli, Federico; Nieus, Thierry; Raimondi, Andrea; Greco, Barbara; Cantatore, Daniela; Gasparini, Laura; Berdondini, Luca; Bifone, Angelo; Gozzi, Alessandro; Wells, Sara; Nolan, Patrick M.

2014-01-01

The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable intellectual disability syndrome. In parallel, characterization of a chemically mutagenized mouse line that displays features similar to those of human patients with β-catenin mutations enabled us to investigate the consequences of β-catenin dysfunction through development and into adulthood. The mouse mutant, designated batface (Bfc), carries a Thr653Lys substitution in the C-terminal armadillo repeat of β-catenin and displayed a reduced affinity for membrane-associated cadherins. In association with this decreased cadherin interaction, we found that the mutation results in decreased intrahemispheric connections, with deficits in dendritic branching, long-term potentiation, and cognitive function. Our study provides in vivo evidence that dominant mutations in β-catenin underlie losses in its adhesion-related functions, which leads to severe consequences, including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and abnormal craniofacial features in adults. PMID:24614104

Mental health needs in adolescents with intellectual disabilities: cross-sectional survey of a service sample.

PubMed

Hassiotis, A; Turk, J

2012-05-01

Little research has been conducted on the mental health needs of adolescents with intellectual disability, despite the severity and rates of such needs being high throughout childhood and in adulthood. We have investigated the prevalence and predictors of mental health needs and service use in adolescents with intellectual disabilities. Service-based sample (n = 75) in one catchment area. Individual assessments were carried out. The main outcome was the presence of mental health needs measured by the Developmental Behaviour Checklist. Prevalence of mental health needs increased from 51% as reported by parents to 67% as judged by clinical interviews. Caseness was associated with low adaptive functioning, diagnosis of autism and family history of mental illness. High scores on parent reports of participant mental ill-health showed negative correlations with adaptive functioning scores. Most individuals were in receipt of social and health care. Half of the participants had sought help for mental health needs. Almost half of those receiving medication were on psychiatric medication. Adolescents with intellectual disabilities may have considerable mental health problems which are functionally impairing yet frequently unidentified and hence untreated. Identification of those at risk and undertaking of a comprehensive needs assessment are essential to maximize potential and quality of life and to reduce further deficits and social exclusion. © 2012 Blackwell Publishing Ltd.

Impaired Dendritic Development and Memory in Sorbs2 Knock-Out Mice

PubMed Central

Zhang, Qiangge; Gao, Xian; Li, Chenchen; Feliciano, Catia; Wang, Dongqing; Zhou, Dingxi; Mei, Yuan; Monteiro, Patricia; Anand, Michelle; Itohara, Shigeyoshi; Dong, Xiaowei; Fu, Zhanyan

2016-01-01

Intellectual disability is a common neurodevelopmental disorder characterized by impaired intellectual and adaptive functioning. Both environmental insults and genetic defects contribute to the etiology of intellectual disability. Copy number variations of SORBS2 have been linked to intellectual disability. However, the neurobiological function of SORBS2 in the brain is unknown. The SORBS2 gene encodes ArgBP2 (Arg/c-Abl kinase binding protein 2) protein in non-neuronal tissues and is alternatively spliced in the brain to encode nArgBP2 protein. We found nArgBP2 colocalized with F-actin at dendritic spines and growth cones in cultured hippocampal neurons. In the mouse brain, nArgBP2 was highly expressed in the cortex, amygdala, and hippocampus, and enriched in the outer one-third of the molecular layer in dentate gyrus. Genetic deletion of Sorbs2 in mice led to reduced dendritic complexity and decreased frequency of AMPAR-miniature spontaneous EPSCs in dentate gyrus granule cells. Behavioral characterization revealed that Sorbs2 deletion led to a reduced acoustic startle response, and defective long-term object recognition memory and contextual fear memory. Together, our findings demonstrate, for the first time, an important role for nArgBP2 in neuronal dendritic development and excitatory synaptic transmission, which may thus inform exploration of neurobiological basis of SORBS2 deficiency in intellectual disability. SIGNIFICANCE STATEMENT Copy number variations of the SORBS2 gene are linked to intellectual disability, but the neurobiological mechanisms are unknown. We found that nArgBP2, the only neuronal isoform encoded by SORBS2, colocalizes with F-actin at neuronal dendritic growth cones and spines. nArgBP2 is highly expressed in the cortex, amygdala, and dentate gyrus in the mouse brain. Genetic deletion of Sorbs2 in mice leads to impaired dendritic complexity and reduced excitatory synaptic transmission in dentate gyrus granule cells, accompanied by behavioral deficits in acoustic startle response and long-term memory. This is the first study of Sorbs2 function in the brain, and our findings may facilitate the study of neurobiological mechanisms underlying SORBS2 deficiency in the development of intellectual disability. PMID:26888934

Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences☆

PubMed Central

Hill, W.D.; Davies, G.; Liewald, D.C.; Payton, A.; McNeil, C.J.; Whalley, L.J.; Horan, M.; Ollier, W.; Starr, J.M.; Pendleton, N.; Hansel, N.K.; Montgomery, G.W.; Medland, S.E.; Martin, N.G.; Wright, M.J.; Bates, T.C.; Deary, I.J.

2016-01-01

Two themes are emerging regarding the molecular genetic aetiology of intelligence. The first is that intelligence is influenced by many variants and those that are tagged by common single nucleotide polymorphisms account for around 30% of the phenotypic variation. The second, in line with other polygenic traits such as height and schizophrenia, is that these variants are not randomly distributed across the genome but cluster in genes that work together. Less clear is whether the very low range of cognitive ability (intellectual disability) is simply one end of the normal distribution describing individual differences in cognitive ability across a population. Here, we examined 40 genes with a known association with non-syndromic autosomal recessive intellectual disability (NS-ARID) to determine if they are enriched for common variants associated with the normal range of intelligence differences. The current study used the 3511 individuals of the Cognitive Ageing Genetics in England and Scotland (CAGES) consortium. In addition, a text mining analysis was used to identify gene sets biologically related to the NS-ARID set. Gene-based tests indicated that genes implicated in NS-ARID were not significantly enriched for quantitative trait loci (QTL) associated with intelligence. These findings suggest that genes in which mutations can have a large and deleterious effect on intelligence are not associated with variation across the range of intelligence differences. PMID:26912939

Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences.

PubMed

Hill, W D; Davies, G; Liewald, D C; Payton, A; McNeil, C J; Whalley, L J; Horan, M; Ollier, W; Starr, J M; Pendleton, N; Hansel, N K; Montgomery, G W; Medland, S E; Martin, N G; Wright, M J; Bates, T C; Deary, I J

2016-01-01

Two themes are emerging regarding the molecular genetic aetiology of intelligence. The first is that intelligence is influenced by many variants and those that are tagged by common single nucleotide polymorphisms account for around 30% of the phenotypic variation. The second, in line with other polygenic traits such as height and schizophrenia, is that these variants are not randomly distributed across the genome but cluster in genes that work together. Less clear is whether the very low range of cognitive ability (intellectual disability) is simply one end of the normal distribution describing individual differences in cognitive ability across a population. Here, we examined 40 genes with a known association with non-syndromic autosomal recessive intellectual disability (NS-ARID) to determine if they are enriched for common variants associated with the normal range of intelligence differences. The current study used the 3511 individuals of the Cognitive Ageing Genetics in England and Scotland (CAGES) consortium. In addition, a text mining analysis was used to identify gene sets biologically related to the NS-ARID set. Gene-based tests indicated that genes implicated in NS-ARID were not significantly enriched for quantitative trait loci (QTL) associated with intelligence. These findings suggest that genes in which mutations can have a large and deleterious effect on intelligence are not associated with variation across the range of intelligence differences.

Effects of video-feedback intervention on harmonious parent-child interaction and sensitive discipline of parents with intellectual disabilities: A randomized controlled trial.

PubMed

Hodes, M W; Meppelder, M; de Moor, M; Kef, S; Schuengel, C

2018-03-01

This study tested whether video-feedback intervention based on attachment and coercion theory increased harmonious parent-child interaction and sensitive discipline of parents with mild intellectual disabilities or borderline intellectual functioning. Observer ratings of video-recorded structured interaction tasks at home formed pretest, post-test, and 3-month follow-up outcome data in a randomized controlled trial with 85 families. Repeated measures analyses of variance and covariance were conducted to test for the intervention effect and possible moderation by IQ and adaptive functioning. The intervention effect on harmonious parent-child interaction was conditional on parental social adaptive behaviour at pretest, with lower adaptive functioning associated with stronger intervention benefit at post-test and follow-up compared to care as usual. Intervention effects were not conditional on parental IQ. Intervention effects for sensitive discipline were not found. Although the video-feedback intervention did not affect observed parenting for the average parent, it may benefit interaction between children and parents with lower parental adaptive functioning. © 2017 John Wiley & Sons Ltd.

Discontinuity in the genetic and environmental causes of the intellectual disability spectrum.

PubMed

Reichenberg, Abraham; Cederlöf, Martin; McMillan, Andrew; Trzaskowski, Maciej; Kapra, Ori; Fruchter, Eyal; Ginat, Karen; Davidson, Michael; Weiser, Mark; Larsson, Henrik; Plomin, Robert; Lichtenstein, Paul

2016-01-26

Intellectual disability (ID) occurs in almost 3% of newborns. Despite substantial research, a fundamental question about its origin and links to intelligence (IQ) still remains. ID has been shown to be inherited and has been accepted as the extreme low of the normal IQ distribution. However, ID displays a complex pattern of inheritance. Previously, noninherited rare mutations were shown to contribute to severe ID risk in individual families, but in the majority of cases causes remain unknown. Common variants associated with ID risk in the population have not been systematically established. Here we evaluate the hypothesis, originally proposed almost 1 century ago, that most ID is caused by the same genetic and environmental influences responsible for the normal distribution of IQ, but that severe ID is not. We studied more than 1,000,000 sibling pairs and 9,000 twin pairs assessed for IQ and for the presence of ID. We evaluated whether genetic and environmental influences at the extremes of the distribution are different from those operating in the normal range. Here we show that factors influencing mild ID (lowest 3% of IQ distribution) were similar to those influencing IQ in the normal range. In contrast, the factors influencing severe ID (lowest 0.5% of IQ distribution) differ from those influencing mild ID or IQ scores in the normal range. Taken together, our results suggest that most severe ID is a distinct condition, qualitatively different from the preponderance of ID, which, in turn, represents the low extreme of the normal distribution of intelligence.

Discontinuity in the genetic and environmental causes of the intellectual disability spectrum

PubMed Central

Reichenberg, Abraham; Cederlöf, Martin; McMillan, Andrew; Trzaskowski, Maciej; Kapra, Ori; Fruchter, Eyal; Ginat, Karen; Davidson, Michael; Weiser, Mark; Larsson, Henrik; Plomin, Robert; Lichtenstein, Paul

2016-01-01

Intellectual disability (ID) occurs in almost 3% of newborns. Despite substantial research, a fundamental question about its origin and links to intelligence (IQ) still remains. ID has been shown to be inherited and has been accepted as the extreme low of the normal IQ distribution. However, ID displays a complex pattern of inheritance. Previously, noninherited rare mutations were shown to contribute to severe ID risk in individual families, but in the majority of cases causes remain unknown. Common variants associated with ID risk in the population have not been systematically established. Here we evaluate the hypothesis, originally proposed almost 1 century ago, that most ID is caused by the same genetic and environmental influences responsible for the normal distribution of IQ, but that severe ID is not. We studied more than 1,000,000 sibling pairs and 9,000 twin pairs assessed for IQ and for the presence of ID. We evaluated whether genetic and environmental influences at the extremes of the distribution are different from those operating in the normal range. Here we show that factors influencing mild ID (lowest 3% of IQ distribution) were similar to those influencing IQ in the normal range. In contrast, the factors influencing severe ID (lowest 0.5% of IQ distribution) differ from those influencing mild ID or IQ scores in the normal range. Taken together, our results suggest that most severe ID is a distinct condition, qualitatively different from the preponderance of ID, which, in turn, represents the low extreme of the normal distribution of intelligence. PMID:26711998

Effectiveness of Intellectual Distraction on Gagging and Anxiety Management in Children: A Prospective Clinical Study

PubMed Central

Debs, Nahla Nassif; Aboujaoude, Samia

2017-01-01

Objectives: The aim of the present prospective study is to determine the effect of an intellectual colored game (ICG) on the severity of gag reflex (GR) and anxiety in children during dental alginate impression. Materials and Methods: Forty-one children, aging between 5 and 11 years, having a GR varying from normal to moderate had upper alginate impressions. The children's anxiety was evaluated with a facial image scale (FIS) before (T0) and after first failed impression (T1), then, after playing an intellectual colored game (ICG) at T2, while taking an upper alginate impression. Results: 42.9 % of the children had a gag reflex of stage 2 and 31.0 % a facial scale of 3. Initial GR was not significantly associated with the final success of the impression (P =0.260) whereas final impression success was strongly associated with FIS (P <0.001). There was a statistically significant reduction in median GR score from T0 to T2 (P < 0.001) and FIS dropped significantly at T2 with ICG (P < 0.001). Conclusion: This study highlights the clinical performance of the intellectual distraction approach in GR management PMID:29387614

Emotional and behavioural problems in children with visual impairment, intellectual and multiple disabilities.

PubMed

Alimovic, S

2013-02-01

Children with multiple impairments have more complex developmental problems than children with a single impairment. We compared children, aged 4 to 11 years, with intellectual disability (ID) and visual impairment to children with single ID, single visual impairment and typical development on 'Child Behavior Check List/4-18' (CBCL/4-18), Parent Report. Children with ID and visual impairment had more emotional and behavioural problems than other groups of children: with single impairment and with typical development (F = 23.81; d.f.1/d.f.2 = 3/156; P < 0.001). All children with special needs had more emotional and behavioural problems than children with typical development. The highest difference was found in attention problems syndrome (F = 30.45; d.f.1/d.f.2 = 3/156; P < 0.001) where all groups of children with impairments had more problems. Children with visual impairment, with and without ID, had more somatic complaints than children with normal vision. Intellectual disability had greater influence on prevalence and kind of emotional and behavioural problems in children than visual impairment. © 2012 The Author. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

Factors Which Influence the Development of Intelligence and Performance Among Nigerian Children.

ERIC Educational Resources Information Center

Odebunmi, Akin

Several themes relevant to the personality development and intellectual functioning of children are presented in this position paper. Inferences for the education of Nigerian children are also drawn. Among general factors considered influential in children's intellectual development, three are emphasized: the way in which intelligence is defined,…

Extracurricular Activities and the Development of Social Skills in Children with Intellectual and Specific Learning Disabilities

ERIC Educational Resources Information Center

Brooks, B. A.; Floyd, F.; Robins, D. L.; Chan, W. Y.

2015-01-01

Background: Children with intellectual disability and specific learning disabilities often lack age-appropriate social skills, which disrupts their social functioning. Because of the limited effectiveness of classroom mainstreaming and social skills training for these children, it is important to explore alternative opportunities for social skill…

State Health Care Financing Strategies for Children with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Bachman, Sara S.; Comeau, Margaret; Tobias, Carol; Allen, Deborah; Epstein, Susan; Jantz, Kathryn; Honberg, Lynda

2012-01-01

We provide the first descriptive summary of selected programs developed to help expand the scope of coverage, mitigate family financial hardship, and provide health and support services that children with intellectual and developmental disabilities need to maximize their functional status and quality of life. State financing initiatives were…

Identification of Personal Factors that Determine Work Outcome for Adults with Intellectual Disability

ERIC Educational Resources Information Center

Martorell, A.; Gutierrez-Recacha, P.; Pereda, A.; Ayuso-Mateos, J. L.

2008-01-01

Background: Access to employment for people with intellectual disability (ID) has become a social priority. The aim of the present study is to try to determine which variables [sociodemographic variables, intelligence quotient (IQ), presence or absence of a psychiatric disorder, functioning, self-determination, and behavioural problems] could most…

Global Justice and Intellectual Property Rights: Reforming the International IPR Regime for Balanced Development

ERIC Educational Resources Information Center

Salokannel, Marjut

2006-01-01

Today it is widely recognized that a uniform global intellectual property (IP) system requiring a high level of protection is inherently unjust and affects countries differently depending upon their level of technological and economic development. This article analyzes the functioning of the current international treaty framework having…

Stress among Mothers of Children with Intellectual Disabilities in Urban India: Role of Gender and Maternal Coping

ERIC Educational Resources Information Center

John, Aesha

2012-01-01

Background: The study assessed stress among mothers of young children with intellectual disabilities in urban India and examined the extent to which child functioning and maternal coping predict maternal stress. Through qualitative analyses, the study identified negative and positive dimensions of Indian mothers' caregiving experiences. Materials…

Divided Attention Capacity in Adults with Autism Spectrum Disorders and without Intellectual Disability

ERIC Educational Resources Information Center

Bogte, Hans; Flamma, Bert; Van Der Meere, Jaap; Van Engeland, Herman

2009-01-01

Earlier research showed that divided attention, an aspect of executive function, is limited in both children and adults with autism spectrum disorders (ASDs). The current study explored divided attention capacity in adults with ASD and without intellectual disability (n = 36). Divided attention was tested using a computerized variant of a…

Intellectual Enrichment Is Linked to Cerebral Efficiency in Multiple Sclerosis: Functional Magnetic Resonance Imaging Evidence for Cognitive Reserve

ERIC Educational Resources Information Center

Sumowski, James F.; Wylie, Glenn R.; DeLuca, John; Chiaravalloti, Nancy

2010-01-01

The cognitive reserve hypothesis helps to explain the incomplete relationship between brain disease and cognitive status in people with neurologic diseases, including Alzheimer's; disease and multiple sclerosis. Lifetime intellectual enrichment (estimated with education or vocabulary knowledge) lessens the negative impact of brain disease on…

Clinical Decision Making and Preference Assessment for Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Virués-Ortega, Javier; Pritchard, Kristen; Grant, Robin L.; North, Sebastian; Hurtado-Parrado, Camilo; Lee, May S. H.; Temple, Bev; Julio, Flavia; Yu, C. T.

2014-01-01

Individuals with intellectual or developmental disabilities are able to reliably express their likes and dislikes through direct preference assessment. Preferred items tend to function as rewards and can therefore be used to facilitate the acquisition of new skills and promote task engagement. A number of preference assessment methods are…

Computers, Mass Media, and Schooling: Functional Equivalence in Uses of New Media.

ERIC Educational Resources Information Center

Lieberman, Debra A.; And Others

1988-01-01

Presents a study of 156 California eighth grade students which contrasted their recreational and intellectual computer use in terms of academic performance and use of other media. Among the conclusions were that recreational users watched television heavily and performed poorly in school, whereas intellectual users watched less television,…

Intellectual Disability and Its Relationship to Autism Spectrum Disorders

ERIC Educational Resources Information Center

Matson, Johnny L.; Shoemaker, Mary

2009-01-01

Intellectual disability (ID) and autism spectrum disorders (ASDs) covary at very high rates. Similarly, greater severity of one of these two disorders appears to have effects on the other disorder on a host of factors. A good deal of research has appeared on the topic with respect to nosology, prevalence, adaptive functioning, challenging…

Metabolic Syndrome and Short-Term Heart Rate Variability in Adults with Intellectual Disabilities

ERIC Educational Resources Information Center

Chang, Yaw-Wen; Lin, Jin-Ding; Chen, Wei-Liang; Yen, Chia-Feng; Loh, Ching-Hui; Fang, Wen-Hui; Wu, Li-Wei

2012-01-01

Metabolic syndrome (MetS) increases the risk of cardiovascular events. Heart rate variability (HRV) represents autonomic functioning, and reduced HRV significantly increases cardiovascular mortality. The aims of the present paper are to assess the prevalence of MetS in adults with intellectual disabilities (ID), the difference in short-term HRV…

Predicting the Accuracy of Facial Affect Recognition: The Interaction of Child Maltreatment and Intellectual Functioning

ERIC Educational Resources Information Center

Shenk, Chad E.; Putnam, Frank W.; Noll, Jennie G.

2013-01-01

Previous research demonstrates that both child maltreatment and intellectual performance contribute uniquely to the accurate identification of facial affect by children and adolescents. The purpose of this study was to extend this research by examining whether child maltreatment affects the accuracy of facial recognition differently at varying…

Retaining Intellectual Capital in U.S. Organizations: An Exploratory Study

ERIC Educational Resources Information Center

Taylor, Bobby

2017-01-01

Intellectual capital (IC) is a vital to the functionality of information technology (IT) businesses. Many companies recognize that enhancing and maintaining IC is critical to sustainability. The problem is that Fortune 500 IT businesses lack human resources in the United States needed for innovative development, resulting in an overreliance on…

Self-Injurious Behavior in People with Profound Intellectual Disabilities: A Meta-Analysis of Single-Case Studies

ERIC Educational Resources Information Center

Denis, Jo; Van den Noortgate, Wim; Maes, Bea

2011-01-01

The limitations people with profound intellectual disabilities experience in functioning contribute to a vulnerability to self-injurious behavior. Since this problem behavior has important negative consequences for people concerned, examining the effectiveness of treatments is important. In the current meta-analysis, single-case studies…

The Influence of Daily Structured Physical Activity on Academic Progress of Elementary Students with Intellectual Disabilities

ERIC Educational Resources Information Center

Everhart, Brett; Dimon, Chelsea; Stone, Danielle; Desmond, Deborah; Casilio, Mary

2012-01-01

Recent evidence suggests regular physical activity can positively influence academic performance. Although, little has been published on physical activity's impact on academic performance of students with intellectual disabilities, research shows the impact on brain and cognitive function of movement and physical activity. In this study, seven…

Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID).

PubMed

Grant, Sheena; Cross, Elaine; Wraith, James Edmond; Jones, Simon; Mahon, Louise; Lomax, Michelle; Bigger, Brian; Hare, Dougal

2013-03-01

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism of the glycosaminoglycan heparan sulphate. It is a degenerative disorder, with a progressive decline in children's intellectual and physical functioning. There is currently no cure for the disorder. To date there is a paucity of research on how this disorder impacts parents psychological functioning. Specifically, research in the area has failed to employ adequate control groups to assess if the impact of this disorder on parents psychological functioning differs from parenting a child with intellectual disability (ID). The current study examined child behaviour and parental psychological functioning in 23 parents of children with MPS III and 23 parents of children with ID. Parents completed postal questionnaires about their child's behaviour and abilities and their own psychological functioning. Parents of children with MPS III reported fewer behavioural difficulties as their child aged, more severe level of intellectual disability, and similar levels of perceived social support, coping techniques, stress, anxiety and depression levels as parents of children with ID. Both groups of parents scored above the clinical cut off for anxiety and depression. Parents of children with MPS III rated themselves as significantly less future-orientated and goal directed than parents of children with ID. Services should develop support packages for parents of children with MPS III that incorporate an understanding of the unique stressors and current-difficulty approach of this population. Future research should examine gender differences between parental psychological functioning, using mixed qualitative and quantitative approaches, and utilise matched developmental level and typically developing control groups.

Neuropsychological status at seizure onset in children

PubMed Central

Fastenau, P S.; Johnson, C S.; Perkins, S M.; Byars, A W.; deGrauw, T J.; Austin, J K.; Dunn, D W.

2009-01-01

Objective: This large, prospective, community-based study characterized neuropsychological functioning and academic achievement at the time of the first recognized seizure and identified risk factors for cognitive deficits. Methods: We compared 282 children (ages 6–14 years, IQ ≥70) with a first recognized seizure to 147 healthy siblings on a battery of well-standardized and widely used neuropsychological and academic achievement tests and examined relationships with demographic and clinical variables. Results: In this intellectually normal cohort, 27% with just one seizure and up to 40% of those with risk factors exhibited neuropsychological deficits at or near onset. Risk factors associated with neuropsychological deficits included multiple seizures (i.e., second unprovoked seizure; odds ratio [OR] = 1.96), use of antiepileptic drugs (OR = 2.27), symptomatic/cryptogenic etiology (OR = 2.15), and epileptiform activity on the initial EEG (OR = 1.90); a child with all 4 risks is 3.00 times more likely than healthy siblings to experience neuropsychological deficits by the first clinic visit. Absence epilepsy carried increased odds for neuropsychological impairment (OR = 2.00). Conclusions: A subgroup of intellectually normal children with seizures showed neuropsychological deficits at onset. Academic achievement was unaffected, suggesting that there is a window early in the disorder for intervention to ameliorate the impact on school performance. Therefore, the risk factors identified here (especially if multiple risks are present) warrant swift referral for neuropsychological evaluation early in the course of the condition. GLOSSARY AED = antiepileptic drug; ANOVA = analysis of variance; CELF = Clinical Evaluation of Language Fundamentals; CI = confidence interval; CTOPP = Comprehensive Test of Phonological Processing; OR = odds ratio; PURS = prior unrecognized seizure; WCST = Wisconsin Card Sorting Test; WRAML = Wide Range Assessment of Memory and Learning. PMID:19675309

Array-CGH in children with mild intellectual disability: a population-based study.

PubMed

Coutton, Charles; Dieterich, Klaus; Satre, Véronique; Vieville, Gaëlle; Amblard, Florence; David, Marie; Cans, Christine; Jouk, Pierre-Simon; Devillard, Francoise

2015-01-01

Intellectual disability (ID) is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of ID originate from chromosomal imbalances. During the last years, array-CGH has successfully contributed to improve the diagnostic detection rate of genetic abnormalities in patients with ID. Most array-CGH studies focused on patients with moderate or severe intellectual disability. Studies on genetic etiology in children with mild intellectual disability (ID) are very rare. We performed array-CGH analysis in 66 children with mild intellectual disability assessed in a population-based study and for whom no genetic etiology was identified. We found one or more copy number variations (CNVs) in 20 out of 66 (~30 %) patients with a mild ID. In eight of them (~12 %), the CNVs were certainly responsible for the phenotype and in six they were potentially pathogenic for ID. Altogether, array-CGH helped to determine the etiology of ID in 14 patients (~21 %). Our results underscore the clinical relevance of array-CGH to investigate the etiology of isolated idiopathic mild ID in patients or associated with even subtle dysmorphic features or congenital malformations.

LAMP-2 deficiency leads to hippocampal dysfunction but normal clearance of neuronal substrates of chaperone-mediated autophagy in a mouse model for Danon disease.

PubMed

Rothaug, Michelle; Stroobants, Stijn; Schweizer, Michaela; Peters, Judith; Zunke, Friederike; Allerding, Mirka; D'Hooge, Rudi; Saftig, Paul; Blanz, Judith

2015-01-31

The Lysosomal Associated Membrane Protein type-2 (LAMP-2) is an abundant lysosomal membrane protein with an important role in immunity, macroautophagy (MA) and chaperone-mediated autophagy (CMA). Mutations within the Lamp2 gene cause Danon disease, an X-linked lysosomal storage disorder characterized by (cardio)myopathy and intellectual dysfunction. The pathological hallmark of this disease is an accumulation of glycogen and autophagic vacuoles in cardiac and skeletal muscle that, along with the myopathy, is also present in LAMP-2-deficient mice. Intellectual dysfunction observed in the human disease suggests a pivotal role of LAMP-2 within brain. LAMP-2A, one specific LAMP-2 isoform, was proposed to be important for the lysosomal degradation of selective proteins involved in neurodegenerative diseases such as Huntington's and Parkinson's disease. To elucidate the neuronal function of LAMP-2 we analyzed knockout mice for neuropathological changes, MA and steady-state levels of CMA substrates. The absence of LAMP-2 in murine brain led to inflammation and abnormal behavior, including motor deficits and impaired learning. The latter abnormality points to hippocampal dysfunction caused by altered lysosomal activity, distinct accumulation of p62-positive aggregates, autophagic vacuoles and lipid storage within hippocampal neurons and their presynaptic terminals. The absence of LAMP-2 did not apparently affect MA or steady-state levels of selected CMA substrates in brain or neuroblastoma cells under physiological and prolonged starvation conditions. Our data contribute to the understanding of intellectual dysfunction observed in Danon disease patients and highlight the role of LAMP-2 within the central nervous system, particularly the hippocampus.

School dysfunction in youth with autistic spectrum disorder in Taiwan: The effect of subtype and ADHD.

PubMed

Chiang, Huey-Ling; Kao, Wei-Chih; Chou, Mei-Chun; Chou, Wen-June; Chiu, Yen-Nan; Wu, Yu-Yu; Gau, Susan Shur-Fen

2018-06-01

School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths. Their parents received a semi-structured psychiatric interview for their ASD and ADHD diagnoses and reported their school functions. Youths with ASD were further grouped into low-functioning autism (LFA, ASD with intellectual disability and developmental language delay, n = 44), high-functioning autism (HFA, ASD with no intellectual disability, n = 55) and Asperger's syndrome (AS, ASD with neither language delay nor intellectual disability, n = 61). Compared to TD, ASD had worse school functions in the domains of academic performance, attitude toward schoolwork, social interaction, and behavioral problems except for no academic differences from TD in HFA and ASD without ADHD. Subgroup analysis revealed that HFA and AS had better academic performance but showed worse attitude toward school than LFA. Comorbidity of ADHD negatively impacted all domains of school functions. Besides autistic and ADHD symptoms, oppositional symptoms, lower intelligence, older age, and female gender in youths also predicted school dysfunction. Although youths with ASD have school dysfunction in several domains, this study specifically addresses the role of intelligence and comorbid ADHD on their school dysfunction. Autism Res 2018, 11: 857-869. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Impaired school functions varied in ASD youths with different characteristics. Youths with autism spectrum disorder (ASD) encounter varying levels and domains of impaired performance at schools, such as lower academic performance, negative attitude toward school work, fewer reciprocal friendships, and more behavioral problems. Our results indicate that ASD youths without intellectual disability had better academic performance, but worse attitude toward school than those with intellectual disability. Co-occurrence with ADHD is associated with school dysfunction. In summary, intelligence and comorbid ADHD influences several domains of school functions. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

The main signs of ageing in people with intellectual disability.

PubMed

Wark, Stuart; Hussain, Rafat; Edwards, Helen

2016-12-01

Investigations around ageing with an intellectual disability have increased substantially in the past three decades. A research gap continued to exist regarding the detection of ageing issues in this cohort of people, particularly in rural areas where access to specialist support continued to be limited. The purpose of this study was to identify the main signs of ageing in rural people with intellectual disabilities. A multi-round Delphi design was used to examine what signs of ageing were observed by disability support staff, who assisted people with intellectual disability. The project was conducted across nine of the ten rural regions (as defined by the government funding body) in New South Wales (NSW). There were 31 participants representing 14 non-government organisations. The group was composed of 26 women and 5 men, with a mean age of 47 years, who averaged 10-year experience with people with intellectual disabilities. The objective was to gain the direct input of rurally based disability workers to identify the main signs of ageing in people with intellectual disabilities. Thirty-two specific signs of ageing, including emerging mental health issues, grief, loss of identity and aggression, were identified. A thematic analysis indicated two main categories: mental/emotional functioning and physical functioning. When carers have the information and skills needed to identify the main signs of ageing, they can more accurately recognise and address potential problems in a timely manner. Such understandings have the potential to reduce premature admissions to residential aged-care. © 2016 National Rural Health Alliance Inc.

Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

PubMed Central

CARULLA, LUIS SALVADOR; REED, GEOFFREY M.; VAEZ-AZIZI, LEILA M.; COOPER, SALLY-ANN; LEAL, RAFAEL MARTINEZ; BERTELLI, MARCO; ADNAMS, COLLEEN; COORAY, SHERVA; DEB, SHOUMITRO; DIRANI, LEYLA AKOURY; GIRIMAJI, SATISH CHANDRA; KATZ, GREGORIO; KWOK, HENRY; LUCKASSON, RUTH; SIMEONSSON, RUNE; WALSH, CAROLYN; MUNIR, KEMIR; SAXENA, SHEKHAR

2011-01-01

Although “intellectual disability” has widely replaced the term “mental retardation”, the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)’s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as “a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills”. The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features. PMID:21991267

Preschool to School in Autism: Neuropsychiatric Problems 8 Years After Diagnosis at 3 Years of Age.

PubMed

Barnevik Olsson, M; Lundström, S; Westerlund, J; Giacobini, M B; Gillberg, C; Fernell, E

2016-08-01

The study presents neuropsychiatric profiles of children aged 11 with autism spectrum disorder, assessed before 4.5 years, and after interventions. The original group comprised a community sample of 208 children with ASD. Parents of 128 participated-34 with average intellectual function, 36 with borderline intellectual function and 58 with intellectual disability. They were interviewed using the Autism-Tics, AD/HD and other Comorbidities interview. Criteria for a clinical/subclinical proxy of ASD were met by 71, 89 and 95 %, respectively. Criteria for at least one of ASD, AD/HD, Learning disorder or Developmental Coordination Disorder were met by 82, 94 and 97 %. More than 90 % of children with a preschool diagnosis of ASD have remaining neuropsychiatric problems at 11, despite early intervention.

Sustained attention in school-age children with congenital hypothyroidism: Influence of episodes of overtreatment in the first three years of life.

PubMed

García Morales, L; Rodríguez Arnao, M D; Rodríguez Sánchez, A; Dulín Íñiguez, E; Álvarez González, M A

2017-11-20

Children with congenital hypothyroidism (CH) are at risk of developing mild cognitive impairment despite normal overall intellectual performance. These deficits may be caused by disease-related and treatment-related factors. This study explores the impact of abnormal thyroid function during the first 3 years of life on attention performance at school age. We included 49 children diagnosed with CH and receiving treatment for the condition: 14 boys (mean age 9.5±2.8 years) and 35 girls (9.6±2.6 years). The number of episodes of normal, under-, and overtreatment were estimated based on TSH levels during their first 3 years of life (at 12, 18, 24, 30, and 36 months). Children were assessed using a computerised version of a Sustained attention test. General linear models were calculated with the attention index as the dependent variable and sex, aetiology, and number of episodes of normal, under-, and overtreatment as independent variables. Higher numbers of episodes of overtreatment (low TSH level) were associated with poorer attention performance at school age (P=.005, r=-0.45). Children with CH should be monitored closely during the first 3 years of life in order to prevent not only hypothyroidism but also any adverse effects of overtreatment that may affect attentional function at school age. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

Observing Behavior and Atypically Restricted Stimulus Control

ERIC Educational Resources Information Center

Dube, William V.; Dickson, Chata A.; Balsamo, Lyn M.; O'Donnell, Kristin Lombard; Tomanari, Gerson Y.; Farren, Kevin M.; Wheeler, Emily E.; McIlvane, William J.

2010-01-01

Restricted stimulus control refers to discrimination learning with atypical limitations in the range of controlling stimuli or stimulus features. In the study reported here, 4 normally capable individuals and 10 individuals with intellectual disabilities (ID) performed two-sample delayed matching to sample. Sample-stimulus observing was recorded…

WISC-IV Intellectual Profiles in Italian Children With Specific Learning Disorder and Related Impairments in Reading, Written Expression, and Mathematics.

PubMed

Poletti, Michele

2016-01-01

The fifth edition of theDiagnostic and Statistical Manual of Mental Disordersgrouped specific learning disabilities in the single diagnostic category of specific learning disorder (SLD), with specifiers for impairments in reading, written expression, and mathematics. This study aimed at investigating the intellectual profile, assessed with the fourth edition of theWechsler Intelligence Scale for Children(WISC-IV), of 172 children with a diagnosis of SLD, compared to 74 clinical referral controls. WISC-IV intellectual functioning in children with SLD was characterized by a significant discrepancy between general ability and cognitive proficiency (General Ability Index [GAI] > Cognitive Proficiency Index [CPI]), and worse performances on the Similarities, Digit Span, Letter-Number Sequencing, and Coding subtests, supporting models of multiple cognitive deficits at the basis of neurodevelopmental disorders as SLD. GAI was the best and more conservative measure provided by the WISC-IV to identify intellectual functioning in children with SLD, and the intellectual discrepancy between GAI and CPI could be considered a "cognitive sign" for the presence of SLD in a single diagnostic category. Cognitive deficits differed in subtypes of impairment (reading, written expression, and mathematics), supporting their distinction for empirical, educational, and rehabilitative purposes. These findings need further replication in larger samples and in comparison to typically developing children. © Hammill Institute on Disabilities 2014.

Physical Fitness Profile in Adults with Intellectual Disabilities: Differences between Levels of Sport Practice

ERIC Educational Resources Information Center

Cuesta-Vargas, Antonio Ignacio; Paz-Lourido, Berta; Rodriguez, Alejandro

2011-01-01

Neuromuscular and aerobic capacity can be reduced in people with intellectual disabilities (ID). Previous studies suggest these individuals might be particularly susceptible to losing basic functions because of poor physical fitness. The aim of this study is to describe the physical fitness profile of adult athletes with ID and identify whether…

A Comparison of Support for Two Groups of Young Adults with Mild Intellectual Disability

ERIC Educational Resources Information Center

Soenen, Sarah; van Berckelaer-Onnes, Ina; Scholte, Evert

2016-01-01

Young adults with mild to borderline intellectual disability (MBID) have varying profiles of cognitive, adaptive and behavioural functioning. There is also variability in their educational and therapeutic needs. This study compares recommended and actual provision of support for two groups of young adults with MBID and looks at young adults'…

A Brief History of Anti-Intellectualism in American Media

ERIC Educational Resources Information Center

Claussen, Dane S.

2011-01-01

Standard media coverage of higher education hasn't changed that much since the 1940s, and it doesn't serve the core functions of higher education well. US news media could not maintain their anti-intellectualism without widespread public acceptance, but schools of journalism must accept their share of the blame. US journalists historically came…

University Faculty and the Value of Their Intellectual Property: Comparing IP in Teaching and Research

ERIC Educational Resources Information Center

Hentschke, Guilbert C.

2017-01-01

This chapter describes the protectionist and access functions of intellectual property for the teaching and research work of university faculty. The degree to which an individual piece of IP is protected or made accessible to others depends in large measure on its market-related characteristics, including costs of production, availability of…

Monoamine Oxidase a Promoter Gene Associated with Problem Behavior in Adults with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

May, Michael E.; Srour, Ali; Hedges, Lora K.; Lightfoot, David A.; Phillips, John A., III; Blakely, Randy D.; Kennedy, Craig H.

2009-01-01

A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a…

Looking beyond Maternal Sensitivity: Mother-Child Correlates of Attachment Security among Children with Intellectual Disabilities in Urban India

ERIC Educational Resources Information Center

John, Aesha; Morris, Amanda Sheffield; Halliburton, Amy L.

2012-01-01

This study examined correlates of attachment security among children with intellectual disabilities in urban India. Survey and observational data were gathered from 47 children, mothers, and teachers on children's attachment security, adaptive functioning, and mother-child emotional availability. The data were analyzed to examine whether child…

From Different to Differentiated: Using "Ecological Framework" to Support Personally Relevant Access to General Curriculum for Students with Significant Intellectual Disabilities

ERIC Educational Resources Information Center

Trela, Katherine; Jimenez, Bree A.

2013-01-01

Language used in the field of special education is important; it can serve to influence both curriculum and placement decisions for students with intellectual disability. Historically, "Functional Curriculum" was used to describe curriculum adaptations necessary for students to access their environment (school and community). However,…

Schizophrenia-Spectrum Psychoses in People With and Without Intellectual Disability

ERIC Educational Resources Information Center

Bouras, N.; Martin, G.; Leese, M.; Vanstraelen, M.; Holt, G.; Thomas, C.; Hindler, C.; Boardman, J.

2004-01-01

Although there is an increased risk of schizophrenia-spectrum psychoses (SSP) in people with intellectual disability (ID), there is a paucity of research evidence into clinical presentation of the disorder in comparison with research into SSP in people without ID. Aims The aims of the study were to compare clinical, functional, and social factors…

Perry's Scheme of Intellectual and Epistemological Development as a Framework for Describing Student Difficulties in Learning Organic Chemistry

ERIC Educational Resources Information Center

Grove, Nathaniel P.; Bretz, Stacey Lowery

2010-01-01

We have investigated student difficulties with the learning of organic chemistry. Using Perry's Model of Intellectual Development as a framework revealed that organic chemistry students who function as dualistic thinkers struggle with the complexity of the subject matter. Understanding substitution/elimination reactions and multi-step syntheses is…

Teaching Staff Knowledge, Attributions and Confidence in Relation to Working with Children with an Intellectual Disability and Challenging Behaviour

ERIC Educational Resources Information Center

Rae, Helen; Murray, George; McKenzie, Karen

2011-01-01

The present study examined Scottish teaching staff knowledge about the definition and management of challenging behaviour displayed by children with an intellectual disability. Knowledge levels were relatively low, and participants were most likely to define challenging behaviour by function or topography. Teaching staff were largely unaware of…

Analysis of Intellectual Property Protection Issues in Offshore Outsourcing

ERIC Educational Resources Information Center

Singh, Satinder Pal

2013-01-01

Offshore outsourcing is a business strategy that involves contracting with a partner who can take over certain aspects of a company's business, such as information technology (IT) functions, in the interests of efficiency and cost savings. The purpose of this study was to analyze the intellectual property protection issues to achieve a better…

Exploring How Knowledge Translation Can Improve Sustainability of Community-Based Health Initiatives for People with Intellectual/Developmental Disabilities

ERIC Educational Resources Information Center

Spassiani, Natasha A.; Parker Harris, Sarah; Hammel, Joy

2016-01-01

Community-based health initiatives (CBHI) play an important role in maintaining the health, function and participation of people with intellectual/developmental disabilities (I/DD) living in the community. However, implementation and long-term sustainability of CBHI is challenging. The Promoting Action on Research Implementation in Health Services…

Effects of a Self-Monitoring Strategy on Independent Work Behavior of Students with Mild Intellectual Disability

ERIC Educational Resources Information Center

Coughlin, Jennifer; McCoy, Kathleen M.; Kenzer, Amy; Mathur, Sarup R.; Zucker, Stanley H.

2012-01-01

This study evaluated the effectiveness of a self-monitoring strategy on independent work behavior. The three subjects were in first grade, seven years old, identified with mild intellectual disability (MID), and had an Individualized Education Plan (IEP) with targeted functional academic and behavior goals. The purpose of this study was to…

Improving Written Expression of Seventh Grade Mildly Intellectually Disabled Students Utilizing a Basal Reading Program, Journal Writing and Computer Applications.

ERIC Educational Resources Information Center

Wimberly, Sabrenai R.

A practicum was designed to increase mildly intellectually disabled students' written communication skills by demonstrating functional written expression skills in daily assignments and in social communication. A sequenced reading and language program with the integration of journal writing and computer applications was utilized. Seventh- and…

Molecular and Cellular Mechanisms Elucidating Neurocognitive Basis of Functional Impairments Associated with Intellectual Disability in Down Syndrome

ERIC Educational Resources Information Center

Rachidi, Mohammed; Lopes, Carmela

2010-01-01

Down syndrome, the most common genetic cause of intellectual disability, is associated with brain disorders due to chromosome 21 gene overdosage. Molecular and cellular mechanisms involved in the neuromorphological alterations and cognitive impairments are reported herein in a global model. Recent advances in Down syndrome research have lead to…

The Diagnosis of Depression in People with Severe Limitations in Intellectual Functioning

ERIC Educational Resources Information Center

Scott, Haleigh; Havercamp, Susan M.

2015-01-01

People with intellectual disability (ID) were once considered immune to developing psychopathology, including affective disorders such as depression. Now research has shown that people with ID do suffer from depression, and the focus is on understanding how to best diagnose and provide treatment. Research has come a long way in adapting the…

Intervention for Anxiety and Problem Behavior in Children with Autism Spectrum Disorder and Intellectual Disability

ERIC Educational Resources Information Center

Moskowitz, Lauren J.; Walsh, Caitlin E.; Mulder, Emile; McLaughlin, Darlene Magito; Hajcak, Greg; Carr, Edward G.; Zarcone, Jennifer R.

2017-01-01

There is little research on the functional assessment and treatment of anxiety and related problem behavior in children with autism spectrum disorder (ASD), particularly those with intellectual and developmental disability (IDD). In a recent study, we evaluated a multimethod strategy for assessing anxiety in children with ASD and IDD ("Am J…

Inclusion Functioning as Exclusion: New Students Entering the Academy of Music in Sweden

ERIC Educational Resources Information Center

Zimmerman Nilsson, Marie-Helene

2015-01-01

This article presents findings from a pioneer study addressing the first co-action between students with intellectual disabilities and an Academy of Music in Sweden. The aim of the article is to study and discuss subject positions that are constructed in rhythmic lessons related to a gathering where students with intellectual disabilities interact…

Functional Technology for Individuals with Intellectual Disabilities: Meta-Analysis of Mobile Device-Based Interventions

ERIC Educational Resources Information Center

Kim, Jemma; Kimm, Christina H.

2017-01-01

This study employs a meta-analysis of single-subject design research to investigate the efficacy of mobile device-based interventions for individuals with intellectual disabilities (ID) and to further examine possible variables that may moderate the intervention outcomes. A total of 23 studies, 78 participants, and 140 observed cases that met the…

Use it or lose it: engaged lifestyle as a buffer of cognitive decline in aging?

PubMed

Hultsch, D F; Hertzog, C; Small, B J; Dixon, R A

1999-06-01

Data from the Victoria Longitudinal Study were used to examine the hypothesis that maintaining intellectual engagement through participation in everyday activities buffers individuals against cognitive decline in later life. The sample consisted of 250 middle-aged and older adults tested 3 times over 6 years. Structural equation modeling techniques were used to examine the relationships among changes in lifestyle variables and an array of cognitive variables. There was a relationship between changes in intellectually related activities and changes in cognitive functioning. These results are consistent with the hypothesis that intellectually engaging activities serve to buffer individuals against decline. However, an alternative model suggested the findings were also consistent with the hypothesis that high-ability individuals lead intellectually active lives until cognitive decline in old age limits their activities.

Animal models of intellectual disability: towards a translational approach

PubMed Central

Scorza, Carla A; Cavalheiro, Esper A.

2011-01-01

Intellectual disability is a prevalent form of cognitive impairment, affecting 2–3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Intellectual disability is a clinically important disorder for which the etiology and pathogenesis are still poorly understood. Moreover, although tremendous progress has been made, pharmacological intervention is still currently non-existent and therapeutic strategies remain limited. Studies in humans have a very limited capacity to explain basic mechanisms of this condition. In this sense, animal models have been invaluable in intellectual disability investigation. Certainly, a great deal of the knowledge that has improved our understanding of several pathologies has derived from appropriate animal models. Moreover, to improve human health, scientific discoveries must be translated into practical applications. Translational research specifically aims at taking basic scientific discoveries and best practices to benefit the lives of people in our communities. In this context, the challenge that basic science research needs to meet is to make use of a comparative approach to benefit the most from what each animal model can tell us. Intellectual disability results from many different genetic and environmental insults. Taken together, the present review will describe several animal models of potential intellectual disability risk factors. PMID:21779723

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

PubMed

Mircsof, Dennis; Langouët, Maéva; Rio, Marlène; Moutton, Sébastien; Siquier-Pernet, Karine; Bole-Feysot, Christine; Cagnard, Nicolas; Nitschke, Patrick; Gaspar, Ludmila; Žnidarič, Matej; Alibeu, Olivier; Fritz, Ann-Kristina; Wolfer, David P; Schröter, Aileen; Bosshard, Giovanna; Rudin, Markus; Koester, Christina; Crestani, Florence; Seebeck, Petra; Boddaert, Nathalie; Prescott, Katrina; Hines, Rochelle; Moss, Steven J; Fritschy, Jean-Marc; Munnich, Arnold; Amiel, Jeanne; Brown, Steven A; Tyagarajan, Shiva K; Colleaux, Laurence

2015-12-01

The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and affective deficits. Correspondingly, we find specific defects at inhibitory synapses, where NONO regulates synaptic transcription and gephyrin scaffold structure. Our data identify NONO as a possible neurodevelopmental disease gene and highlight the key role of the DBHS protein family in functional organization of GABAergic synapses.

Inhibitory control and adaptive behaviour in children with mild intellectual disability.

PubMed

Gligorović, M; Buha Ðurović, N

2014-03-01

Inhibitory control, as one of the basic mechanisms of executive functions, is extremely important for adaptive behaviour. The relation between inhibitory control and adaptive behaviour is the most obvious in cases of behavioural disorders and psychopathology. Considering the lack of studies on this relation in children with disabilities, the aim of our research is to determine the relation between inhibitory control and adaptive behaviour in children with mild intellectual disability. The sample consists of 53 children with mild intellectual disability. Selection criteria were: IQ between 50 and 70, age between 10 and 14, absence of bilingualism, and with no medical history of neurological impairment, genetic and/or emotional problems. Modified Day-Night version of the Stroop task, and Go-no-Go Tapping task were used for the assessment of inhibitory control. Data on adaptive behaviour were obtained by applying the first part of AAMR (American Association on Mental Retardation) Adaptive Behaviour Scale-School, Second Edition (ABS-S:2). Significant relationships were determined between some aspects of inhibitory control and the most of assessed domains of adaptive behaviour. Inhibitory control measures, as a unitary inhibition model, significantly predict results on Independent Functioning, Economic Activity, Speech and Language Development, and Number and Times domains of the ABS-S:2. Inhibitory control, assessed by second part of the Stroop task, proved to be a significant factor in practical (Independent Functioning) and conceptual (Economic Activity, Speech and Language Development, and Numbers and Time) adaptive skills. The first part of the Stroop task, as a measure of selective attention, proved to be a significant factor in language and numerical demands, along with second one. Inhibitory control through motor responses proved to be a significant factor in independent functioning, economic activities, language and self-direction skills. We can conclude that inhibitory control represents a significant developmental factor of different adaptive behaviour domains in children with mild intellectual disability. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSIDD.

Dysfluencies in the speech of adults with intellectual disabilities and reported speech difficulties.

PubMed

Coppens-Hofman, Marjolein C; Terband, Hayo R; Maassen, Ben A M; van Schrojenstein Lantman-De Valk, Henny M J; van Zaalen-op't Hof, Yvonne; Snik, Ad F M

2013-01-01

In individuals with an intellectual disability, speech dysfluencies are more common than in the general population. In clinical practice, these fluency disorders are generally diagnosed and treated as stuttering rather than cluttering. To characterise the type of dysfluencies in adults with intellectual disabilities and reported speech difficulties with an emphasis on manifestations of stuttering and cluttering, which distinction is to help optimise treatment aimed at improving fluency and intelligibility. The dysfluencies in the spontaneous speech of 28 adults (18-40 years; 16 men) with mild and moderate intellectual disabilities (IQs 40-70), who were characterised as poorly intelligible by their caregivers, were analysed using the speech norms for typically developing adults and children. The speakers were subsequently assigned to different diagnostic categories by relating their resulting dysfluency profiles to mean articulatory rate and articulatory rate variability. Twenty-two (75%) of the participants showed clinically significant dysfluencies, of which 21% were classified as cluttering, 29% as cluttering-stuttering and 25% as clear cluttering at normal articulatory rate. The characteristic pattern of stuttering did not occur. The dysfluencies in the speech of adults with intellectual disabilities and poor intelligibility show patterns that are specific for this population. Together, the results suggest that in this specific group of dysfluent speakers interventions should be aimed at cluttering rather than stuttering. The reader will be able to (1) describe patterns of dysfluencies in the speech of adults with intellectual disabilities that are specific for this group of people, (2) explain that a high rate of dysfluencies in speech is potentially a major determiner of poor intelligibility in adults with ID and (3) describe suggestions for intervention focusing on cluttering rather than stuttering in dysfluent speakers with ID. Copyright © 2013 Elsevier Inc. All rights reserved.

Treating Individuals With Intellectual Disabilities and Challenging Behaviors With Adapted Dialectical Behavior Therapy

PubMed Central

Brown, Julie F.; Brown, Milton Z.; Dibiasio, Paige

2013-01-01

Approximately one third of adults with intellectual and developmental disabilities have emotion dysregulation and challenging behaviors (CBs). Although research has not yet confirmed that existing treatments adequately reduce CBs in this population, dialectical behavior therapy (DBT) holds promise, as it has been shown to effectively reduce CBs in other emotionally dysregulated populations. This longitudinal single-group pilot study examined whether individuals with impaired intellectual functioning would show reductions in CBs while receiving standard DBT individual therapy used in conjunction with the Skills System (DBT-SS), a DBT emotion regulation skills curriculum adapted for individuals with cognitive impairment. Forty adults with developmental disabilities (most of whom also had intellectual disabilities) and CBs, including histories of aggression, self-injury, sexual offending, or other CBs, participated in this study. Changes in their behaviors were monitored over 4 years while in DBT-SS. Large reductions in CBs were observed during the 4 years. These findings suggest that modified DBT holds promise for effectively treating individuals with intellectual and developmental disabilities. PMID:23914278

Typical intellectual engagement and cognition in old age.

PubMed

Dellenbach, Myriam; Zimprich, Daniel

2008-03-01

Typical Intellectual Engagement (TIE) comprises the preference to engage in cognitively demanding activities and has been proposed as a potential explanatory variable of individual differences in cognitive abilities. Little is known, however, about the factorial structure of TIE, its relations to socio-demographic variables, and its influence on intellectual functioning in old age. In the present study, data of 364 adults (65-81 years) from the Zurich Longitudinal Study on Cognitive Aging (ZULU) were used to investigate the factorial structure of TIE and to examine the hypothesis that TIE is associated more strongly with crystallized intelligence than with fluid intelligence in old age. A measurement model of a second order factor based on a structure of four correlated first order factors (Reading, Problem Solving, Abstract Thinking, and Intellectual Curiosity) evinced an excellent fit. After controlling for age, sex, and formal education, TIE was more strongly associated with crystallized intelligence than with fluid intelligence, comparable to results in younger persons. More detailed analyses showed that this association is mostly defined via Reading and Intellectual Curiosity.

The impact of behavioural executive functioning and intelligence on math abilities in children with intellectual disabilities.

PubMed

Dekker, M C; Ziermans, T B; Swaab, H

2016-11-01

Little is known about the role of behavioural executive functioning (EF) skills and level of intelligence (IQ) on math abilities in children with mild to borderline intellectual disabilities. Teachers of 63 children attending a school for special education (age: 10 to 13 years; IQ: 50 to 85) filled out a Behaviour Rating Inventory for Executive Function for each student. Furthermore, students took a standardised national composite math test and a specific math test on measurement and time problems. Information on level of intelligence was gathered through school records. Multiple regression analyses were performed to test direct, moderating and mediating effects of EF and IQ on math performance. Behavioural problems with working memory and flexibility had a direct negative effect on math outcome, while concurrently, level of intelligence had a positive effect. The effect of IQ on math skills was moderated by problems with inhibition: in children with a clinical level of inhibition problems, there was no effect of level of intelligence on math performance. Findings suggest that in students with mild to borderline intellectual disabilities and math difficulties, it is important to address their strengths and weaknesses with respect to EF and adjust instruction and remedial intervention accordingly. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Are Non-intellectually Disabled Black Youth with ASD Less Impaired on Parent Report than Their White Peers?

PubMed Central

Anthony, Bruno J.; Kenworthy, Lauren; Armour, Anna Chelsea; Dudley, Katerina; Anthony, Laura Gutermuth

2016-01-01

There is a lack of research examining differences in functioning in autism spectrum disorder (ASD) across ethnicity, particularly among those without intellectual disability (ID). This study investigated ethnic differences in parent-reported impairment in executive function, adaptive behavior, and social–emotional functioning. White and Black youth (n = 64; ages 6–17) with ASD without ID were compared on each of these domains. Black youth had significantly lower levels of impairment on all three domains. Findings may reflect better daily functioning among Black youth with ASD and/or cultural differences in parent response to questionnaires. Regardless, these findings raise concern about the sensitivity of commonly used measures for Black children with ASD and the impact of culture on daily functioning and symptom manifestation. PMID:26439481

Are Non-intellectually Disabled Black Youth with ASD Less Impaired on Parent Report than Their White Peers?

PubMed

Ratto, Allison B; Anthony, Bruno J; Kenworthy, Lauren; Armour, Anna Chelsea; Dudley, Katerina; Anthony, Laura Gutermuth

2016-03-01

There is a lack of research examining differences in functioning in autism spectrum disorder (ASD) across ethnicity, particularly among those without intellectual disability (ID). This study investigated ethnic differences in parent-reported impairment in executive function, adaptive behavior, and social-emotional functioning. White and Black youth (n = 64; ages 6-17) with ASD without ID were compared on each of these domains. Black youth had significantly lower levels of impairment on all three domains. Findings may reflect better daily functioning among Black youth with ASD and/or cultural differences in parent response to questionnaires. Regardless, these findings raise concern about the sensitivity of commonly used measures for Black children with ASD and the impact of culture on daily functioning and symptom manifestation.

10 CFR 600.325 - Intellectual property.

Code of Federal Regulations, 2011 CFR

2011-01-01

... of rights to data and to inventions conceived or first actually reduced to practice in the course of... award. (3) Special Provision. Normally, an award will not include a background patent and data provision... rights data and/or restricted computer software, may be included. Inclusion of a background patent and/or...

10 CFR 600.325 - Intellectual property.

Code of Federal Regulations, 2010 CFR

2010-01-01

... of rights to data and to inventions conceived or first actually reduced to practice in the course of... award. (3) Special Provision. Normally, an award will not include a background patent and data provision... rights data and/or restricted computer software, may be included. Inclusion of a background patent and/or...

Letter to All Guerrilleros: Unifying the Mindanao Resistance Movement and Unconventional Warfare

DTIC Science & Technology

2011-05-19

population was cut off from its usual outlets for expression. Normally societies are able to express their hopes and fears through speech and other...intellectual traditions; the concept of stasis and public discord found when discussing conflict within groups and the concepts of sedition and rebellion that

Cortical Volume and Developmental Instability Are Independent Predictors of General Intellectual Ability

ERIC Educational Resources Information Center

Thoma, Robert J.; Yeo, Ronald A.; Gangestad, Steven W.; Halgren, Eric; Sanchez, Natalie M.; Lewine, Jeffrey D.

2005-01-01

Measures of developmental instability (DI) reflect developmental disruptions due to genetic and environmental perturbations during normal development. DI might be expected to influence the developmental course of brain development and hence intelligence, and several studies indicate this to be the case. The factors that mediate this relationship…

Horticultural Training for Adolescent Special Education Students.

ERIC Educational Resources Information Center

Airhart, Douglas L.; And Others

1987-01-01

A horticultural training program was developed in conjunction with a prevocational program designed for students with limited ability to perform in a normal high school setting due to moderate intellectual impairment or socialization problems. Prior appraisal by the job developer of a client's adaptability to the program was required to provide…

International Case Studies of Dyslexia. Routledge Research in Education

ERIC Educational Resources Information Center

Anderson, Peggy L., Ed.; Meier-Hedde, Regine, Ed.

2011-01-01

Dyslexia is a disability that exists in all countries that have high expectations for literacy. The inability to read in spite of normal intellectual potential represents one of the most puzzling educational challenges for literate societies, regardless of the culture or language. This book examines medical, psychological, educational, and…

[Psychiatric disorders and cognitive deterioration in Friedreich ataxia].

PubMed

Ayuso Mateos, J L; Bayón, C; Santo-Domingo, J; Calvo, R; Anciones, B

1997-01-01

The present study was designed with the aim of examining the presence of psychiatric diagnosis and intellectual impairment in a sample of patients with Friedreich's ataxia. A consecutive sample of 21 patients presenting with Friedreich's Ataxia were evaluated by means of a neuropsychiatric interview. Only one patient was diagnosed as mentally retarded. Out of the 15 patients of the sample who were evaluated with be WAIS, all of them fell within a normal intellectual range. The idea that Friedreich's Ataxia produces cognitive impairment and serious psychiatric symptoms came from the earliest descriptions of the disease at the beginning of this century, which probably included many patients in their samples who had other diseases.

The Sexuality of Adults with Intellectual Disability in Poland.

PubMed

Kijak, Remigiusz

2013-06-01

Sexuality is one of the most important aspects of human life that relates to sex, one's identification, sexual role, sexual preferences, eroticism, pleasure and intimacy. It fulfils such functions as procreative, hedonistic and relationship-building as well as constitutes an integral part of human's personality. The sexuality of people with intellectual disability is a special case - both from medical, pedagogical, psychological and ethical point of view. Little available research shows that it may become a significant factor that modifies their psychological and sexual functioning. The basic poll involved altogether 133 people with mild intellectual disability. The work was carried out in 11 schools and special institutions of three provinces in Poland: kujawsko - pomorskie, wielkopolskie and dolnośląskie (provinces of Kujavy and Pomerania, Great Poland and Lower Silesia) The respondents qualified to take part in the poll constituted a very uniform group - homogenous as regards their age of 18-25 as well as IQ level that was average for the people with higher degree of intellectual disability (HDID). Their age was of importance as in that life period one can observe the formation of first partner relationships with the clear aim of establishing a family. It is accompanied by a quick development of sexual desire and taking up various forms of sexual activity. People with intellectual disability don't form a homogenous group as regards their psychological and sexual development. In this group, one can observe both different forms of clinical mental handicap which definitely affects the whole process of sexual development. The sexual development is delayed by an average period of 3 years. The people with intellectual disability take up mostly autoerotic behaviour whereas partner relationships wthin that group are more seldom. The phenomenon of sexuality of people with higher degree of intellectual disability is an issue that needs further constant analysis. The research has also made it possible to detect what kind of sexual behaviour people with intellectual disability undertake and the value of sexuality for such people. The article deals also with some important dilemmas connected with sexual education and what factors trigger off incorrect sexual reaction including their lack in the above mentioned group.

Premorbid intellectual functioning and risk of schizophrenia and spectrum disorders.

PubMed

Reichenberg, Abraham; Weiser, Mark; Caspi, Asaf; Knobler, Haim Y; Lubin, Gad; Harvey, Philip D; Rabinowitz, Jonathan; Davidson, Michael

2006-02-01

Evidence from longitudinal studies indicates that lower IQ score in childhood and early adolescence increases risk of schizophrenia and schizophrenia spectrum disorders (SSD). This study investigated the association between premorbid IQ and risk of SSD in a population-based cohort of 17-year-old conscripts. Fifty four thousand males assessed by the Israeli Draft Board during two consecutive years were followed by means of the Israeli National Psychiatric Hospitalization Case Registry for up to 11 years. Tests of verbal and non-verbal reasoning, mathematical knowledge and instructions comprehension and several psychosocial variables were recorded by the Draft Board. Risk for SSD increased with decreasing IQ score. Only poorer non-verbal reasoning conferred a significant increased risk for SSD after taking into account general intellectual ability. IQ was not associated with age of onset. These results confirm the importance of low intellectual functioning as a risk factor for SSD. This is unlikely to be due to prodrome.

Preliminary Findings of Serum Creatinine and Estimated Glomerular Filtration Rate (eGFR) in Adolescents with Intellectual Disabilities

ERIC Educational Resources Information Center

Lin, Jin-Ding; Lin, Lan-Ping; Hsieh, Molly; Lin, Pei-Ying

2010-01-01

The present study aimed to describe the kidney function profile--serum creatinine and estimated glomerular filtration rate (eGFR), and to examine the relationships of predisposing factors to abnormal serum creatinine in people with intellectual disabilities (ID). Data were collected by a cross-sectional study of 827 aged 15-18 years adolescents…

What's at Stake in the Lives of People with Intellectual Disability? Part II: Recommendations for Naming, Defining, Diagnosing, Classifying, and Planning Supports

ERIC Educational Resources Information Center

Luckasson, Ruth; Schalock, Robert L.

2013-01-01

This article focuses on recommendations for naming, defining, diagnosing, classifying, and planning supports for individuals with intellectual disability (ID). The article provides an overview of the essential questions addressed by the respective functions and provides a series of specific recommendations that address the high stakes involved for…

Functional Impairment Severity Is Associated with Health Status among Older Persons with Intellectual Disability and Cerebral Palsy

ERIC Educational Resources Information Center

Henderson, C. M.; Rosasco, M.; Robinson, L. M.; Meccarello, J.; Janicki, M. P.; Turk, M. A.; Davidson, P. W.

2009-01-01

Background: Studies have noted high rates of specific health disorders in adults with cerebral palsy (CP). However, it remains unclear how growing older with a lifelong neuromotor physical disability confers risk for health outcomes in adults who have both intellectual disability (ID) and CP. Aim: To assess the relationship between health status…

Whose Job Is It? Everyday Routines and Quality of Life in Latino and Non-Latino Families of Children with Intellectual Disabilities

ERIC Educational Resources Information Center

Holloway, Susan D.; Domínguez-Pareto, Irenka; Cohen, Shana R.; Kuppermann, Miriam

2014-01-01

Previous studies indicate that families construct daily routines that enable the household to function smoothly and promote family quality of life. However, we know little about how activities are distributed between parents caring for a child with an intellectual disability (ID), particularly in Latino families. To address this gap, we…

Behavioral Problems in Children with Motor and Intellectual Disabilities: Prevalence and Associations with Maladaptive Personality and Marital Relationship

ERIC Educational Resources Information Center

Vrijmoeth, Cis; Monbaliu, Elegast; Lagast, Emmy; Prinzie, Peter

2012-01-01

Prevalence rates of behavioral problems in children with motor disabilities are commonly based on questionnaires developed for a general population (e.g., Child Behavior CheckList). These questionnaires do not take into account lower levels of intellectual functioning. The first aim of this study was to examine the prevalence of parent-reported…

Longitudinal Changes in Intellectual Development in Children with Fragile X Syndrome

ERIC Educational Resources Information Center

Hall, Scott S.; Burns, David D.; Lightbody, Amy A.; Reiss, Allan L.

2008-01-01

Structural equation modeling (SEM) was used to examine the development of intellectual functioning in 145 school-age pairs of siblings. Each pair included one child with Fragile X syndrome (FXS) and one unaffected sibling. All pairs of children were evaluated on the Wechsler Intelligence Scale for Children-Third Edition (WISC-III) at time 1 and 80…

The Role of the External Personal Assistants for Children with Profound Intellectual and Multiple Disabilities Working in the Children's Home

ERIC Educational Resources Information Center

Axelsson, Anna Karin

2015-01-01

Background: Children with profound intellectual and multiple disabilities need support to function in an optimal way. However, there is a limited knowledge about the role of external personal assistants working in the children's home. Materials and Methods: A mixed method study was performed including qualitative data from interviews with 11…

Feasibility and Reliability of the Modified Berg Balance Scale in Persons with Severe Intellectual and Visual Disabilities

ERIC Educational Resources Information Center

Waninge, A.; van Wijck, R.; Steenbergen, B.; van der Schans, C. P.

2011-01-01

Background: The purpose of this study was to determine the feasibility and reliability of the modified Berg Balance Scale (mBBS) in persons with severe intellectual and visual disabilities (severe multiple disabilities, SMD) assigned Gross Motor Function Classification System (GMFCS) grades I and II. Method: Thirty-nine participants with SMD and…

Poverty and Children with Intellectual Disabilities in the World's Richer Countries

ERIC Educational Resources Information Center

Emerson, Eric

2004-01-01

The experience of poverty has a pervasive impact on the health (including mental health) of children and their parent(s), on family functioning and on the life course of children. The aim of this paper is to consider the relevance of poverty to our understanding of the health (and mental health) of children with intellectual disabilities in the…

Effects of Dog-Assisted Therapy on Communication and Basic Social Skills of Adults with Intellectual Disabilities: A Pilot Study

ERIC Educational Resources Information Center

Scorzato, Ivano; Zaninotto, Leonardo; Romano, Michela; Menardi, Chiara; Cavedon, Lino; Pegoraro, Alessandra; Socche, Laura; Zanetti, Piera; Coppiello, Deborah

2017-01-01

Thirty-nine adults with severe to profound intellectual disability (ID) were randomly assigned to either an experimental group (n = 21) or a control group (n = 18). Assessment was blinded and included selected items from the International Classification of Functioning, Disability and Health (ICF), the Behavioral Assessment Battery (BAB), and the…

Towards a Framework in Interaction Training for Staff Working with Clients with Intellectual Disabilities and Challenging Behaviour

ERIC Educational Resources Information Center

Willems, A.; Embregts, P.; Hendriks, L.; Bosman, A.

2016-01-01

Background: Training support staff in dealing with challenging behaviour in clients with intellectual disabilities (ID) is needed. The goal of this study is to determine which elements need to be incorporated in a training on staff interactions with these clients, building upon a framework and an interpersonal model. As in functional analysis,…

Physical Activity Intervention for Older Adults with Intellectual Disability: Report on a Pilot Project

ERIC Educational Resources Information Center

Podgorski, Carol Ann; Kessler, Karen; Cacia, Barbara; Peterson, Derick R.; Henderson, C. Michael

2004-01-01

A 12-week pilot project on physical activity was introduced in a day habilitation setting to a group of 12 older adults with intellectual disability and a variety of physical and behavioral conditions. Our purpose was to determine whether (a) this intervention would positively impact physical function in this population, (b) consumers would choose…

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.

PubMed

Heussinger, Nicole; Saake, Marc; Mennecke, Angelika; Dörr, Helmuth-Günther; Trollmann, Regina

2017-02-01

The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD. The clinical phenotype and manifestations of epilepsy were assessed in a Caucasian family with CRTD. DNA sequencing and creatine metabolism analysis confirmed the diagnosis. Cerebral magnetic resonance imaging (cMRI) with voxel-based morphometry and magnetic resonance spectroscopy was performed in all family members. An SLC6A8 missense mutation (c.1169C>T; p.Pro390Leu, exon 8) was detected in four of five individuals. Both male siblings were hemizygous, the mother and the affected sister heterozygous for the mutation. Structural cMRI was normal, whereas voxel-based morphometry analysis showed reduced white matter volume below the first percentile of the reference population of 290 subjects in the more severely affected boy compared with family members and controls. Normalized creatine concentration differed significantly between the individuals (P < 0.005). There is a broad phenotypic variability in CRTD even in family members with the same mutation. Differences in mental development could be related to atrophy of the subcortical white matter. Copyright © 2016 Elsevier Inc. All rights reserved.

A Case of Tuberous Sclerosis Without Multiorgan Involvement.

PubMed

Falsafi, Parisa; Taghavi-Zenouz, Ali; Khorshidi-Khiyavi, Reza; Nezami, Nariman; Estiar, Mehrdad Asghari

2015-02-24

Tuberous sclerosis or Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant and progressive neurocutaneous disorder involves multiple organs mainly brain, heart, kidney, lung, liver, skin and eye. The diagnosis is typically made clinically. Here, we are reporting a case of TSC presented mainly with dermatologic findings and only neurologic manifestations on MRI. A 15-year-old female with intellectual disability is followed up at neurology clinic for history of seizure. Intelligence evaluation showed that she has intellectual disability. She had wart like lesions distributed in form of butterfly over the face especially involving nose. She did not have any sign and symptom of heart, kidney, lung, bone and eye involvement. Also, her laboratory tests were normal. Despite the physical examination showed absolutely intact neurologic examination, but brain MRI and CT scan revealed several cortical and subcortical tubers, and subependymal glial nodules; no evidence of giant cell astrocytomas and aneurysm. Hypesignal foci are seen at subcortical white matter on long TR images. Fibers are involved. In this case, there is no evidence of giant cell astrocytomas and aneurysm. It seems that TSC could be the prevalent disorder and referring intellectual disability patients in birth with normal organs could be diagnosed as TSC. Therefore, there is necessary need to design genetic natal and post natal tests for diagnosis of TSC cases. Also, there is pivotal that similar cases must be reported; perhaps TSC is more prevalent than to be considered.

Impaired Dendritic Development and Memory in Sorbs2 Knock-Out Mice.

PubMed

Zhang, Qiangge; Gao, Xian; Li, Chenchen; Feliciano, Catia; Wang, Dongqing; Zhou, Dingxi; Mei, Yuan; Monteiro, Patricia; Anand, Michelle; Itohara, Shigeyoshi; Dong, Xiaowei; Fu, Zhanyan; Feng, Guoping

2016-02-17

Intellectual disability is a common neurodevelopmental disorder characterized by impaired intellectual and adaptive functioning. Both environmental insults and genetic defects contribute to the etiology of intellectual disability. Copy number variations of SORBS2 have been linked to intellectual disability. However, the neurobiological function of SORBS2 in the brain is unknown. The SORBS2 gene encodes ArgBP2 (Arg/c-Abl kinase binding protein 2) protein in non-neuronal tissues and is alternatively spliced in the brain to encode nArgBP2 protein. We found nArgBP2 colocalized with F-actin at dendritic spines and growth cones in cultured hippocampal neurons. In the mouse brain, nArgBP2 was highly expressed in the cortex, amygdala, and hippocampus, and enriched in the outer one-third of the molecular layer in dentate gyrus. Genetic deletion of Sorbs2 in mice led to reduced dendritic complexity and decreased frequency of AMPAR-miniature spontaneous EPSCs in dentate gyrus granule cells. Behavioral characterization revealed that Sorbs2 deletion led to a reduced acoustic startle response, and defective long-term object recognition memory and contextual fear memory. Together, our findings demonstrate, for the first time, an important role for nArgBP2 in neuronal dendritic development and excitatory synaptic transmission, which may thus inform exploration of neurobiological basis of SORBS2 deficiency in intellectual disability. Copy number variations of the SORBS2 gene are linked to intellectual disability, but the neurobiological mechanisms are unknown. We found that nArgBP2, the only neuronal isoform encoded by SORBS2, colocalizes with F-actin at neuronal dendritic growth cones and spines. nArgBP2 is highly expressed in the cortex, amygdala, and dentate gyrus in the mouse brain. Genetic deletion of Sorbs2 in mice leads to impaired dendritic complexity and reduced excitatory synaptic transmission in dentate gyrus granule cells, accompanied by behavioral deficits in acoustic startle response and long-term memory. This is the first study of Sorbs2 function in the brain, and our findings may facilitate the study of neurobiological mechanisms underlying SORBS2 deficiency in the development of intellectual disability. Copyright © 2016 the authors 0270-6474/16/362248-14$15.00/0.

Effect of prenatal and postnatal malnutrition on intellectual functioning in early school-aged children in rural western China.

PubMed

Li, Chao; Zhu, Ni; Zeng, Lingxia; Dang, Shaonong; Zhou, Jing; Yan, Hong

2016-08-01

The aim of this study was to evaluate the effect of prenatal and postnatal malnutrition on the intellectual functioning of early school-aged children. We followed the offspring of women who had participated in a trial of prenatal supplementation with different combinations of micronutrients and who remained resident in the study field. We measured their intellectual functioning using the Wechsler intelligence scale for children (WISC-IV). Height-for-age, weight-for-age, and body mass index (BMI)-for-age were used as anthropometric nutritional status indices. Four of the 5 composite scores derived from the WISC-IV, except for working memory index (WMI), were significantly lower in low birth weight children after adjusting for confounds. All 5 composite scores, including full-scale intelligence quotient (FSIQ), verbal comprehension index (VCI), WMI, perceptual reasoning index (PRI), and processing speed index (PSI) were significant lower in stunted and underweight children. The differences in the means of WISC-IV test scores were greatest between stunted and nonstunted children. The means for FSIQ, VCI, WMI, PRI, and PSI were as follows: 5.88 (95% confidence interval [CI]: 2.84-8.92), 5.08 (95% CI: 1.12-8.41), 4.71 (95% CI: 1.78-7.66), 6.13 (95% CI: 2.83-9.44), and 5.81 (95% CI: 2.61-9.00). These means were lower in stunted children after adjusting for confounds. Our results suggest the important influences of low birth weight and postnatal malnutrition (stunting, low body weight) on intellectual functioning in early school-aged children.

Psychiatric epidemiology, or the story of a divided discipline.

PubMed

Demazeux, Steeves

2014-08-01

This article traces the historical decisions, concepts and key professional collaborations that laid the foundations for the formation of American psychiatric epidemiology during the 20th century, up to the discipline's institutional consolidation, circa 1980, when the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III) was published. Thomas Kuhn's 'disciplinary matrix' is mobilized as a framework that allows the institutional and intellectual construction of a discipline to be analysed as separate but intertwined components, without assuming that the two evolve in tandem. The identification of the strengths as well as the frailties and internal divisions of the discipline as it developed reveals a paradoxical situation: a time lag between psychiatric epidemiology's institutionalization and public recognition, on the one hand; and the weak coherence of its intellectual components, on the other hand. We briefly trace the origins of split among the discipline's aetiological models of mental disorders and suggest that the lack of coherence among them has prevented psychiatric epidemiology from achieving the status of a normal scientific discipline, in the Kuhnian sense. Without a more explicit attention to the intellectual rationale of the discipline, psychiatric epidemiology will continue to maintain a strong institutional dimension and weak intellectual matrix. © The Author 2014; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association.

Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome.

PubMed

Fisher, M H; Lense, M D; Dykens, E M

2016-10-01

Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because of the low prevalence of the syndrome, researchers often include participants with WS across a broad age range throughout childhood and adulthood and assume participants demonstrate consistent cognitive development across ages. Indeed, IQ scores are generally stable for children and adolescents with WS, although there are significant individual differences. It is less clear whether this pattern of stable intellectual ability persists into adulthood. Furthermore, while adaptive behaviour is an important indicator of an individual's ability to apply their conceptual skills to everyday functioning, conflicting findings on the trajectories of adaptive behaviour in adolescents and adults with WS have been reported. The current study examined longitudinal profiles of cognitive and adaptive functioning in adolescents and adults with WS. To examine cognitive functioning, participants included 52 individuals with WS (51.9% men) who were assessed with the Kaufman Brief Intelligence Test, 2nd edition (KBIT-2) between two and seven times. At their first assessment, participants had a mean age of 25.4 years (SD = 8.4), ranging in age from 14.2 to 48.9 years. To assess adaptive behaviour, participants included a subset of 28 individuals with WS whose parents completed the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II) between two and five times. At their initial administration, participants ranged from 17.1-40.2 years of age, with a mean age of 26.5 years (SD = 7.3). A series of multilevel models were used to examine changes in KBIT-2 Composite IQ, Verbal IQ and Nonverbal IQ standard scores over time, as well as the Adaptive Behavior Composite, and the Communication, Daily Living Skills and Socialization subdomains of the VABS-II. Consistent with the WS cognitive profile, IQ scores were significantly lower than the general population IQ score of 100, and there was significant variability in individual IQ scores and slopes. KBIT-2 IQ scores were generally stable across adolescents and adults with WS. Adaptive behaviour scores were significantly lower than the population mean score of 100, and there was significant variability in individuals' adaptive behaviour scores but not trajectories. However, in contrast to the findings with the KBIT-2, VABS-II scores were observed to significantly decrease over time. Findings suggest that while intellectual functioning remains stable, adaptive functioning does not remain stable across adolescence and adulthood in individuals with WS. Implications for the relation between cognitive and adaptive functioning across development are discussed, with a focus on how this relates to specific aspects of the WS phenotype. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Hall v. Florida: defining intellectual disability in the shadow of the death penalty.

PubMed

Appelbaum, Paul S

2014-10-01

When the U.S. Supreme Court held that persons with mental retardation (now called intellectual disability) could not be sentenced to death, it left the question of how to define the condition to the states. That issue was raised in Hall v. Florida, which challenged one state's "bright-line rule" barring consideration of defendants with IQs over 70. In an endorsement of the professional consensus, the justices ruled that a more flexible approach that takes into account both intellectual and adaptive functioning is required. The Court's posture may bode well for its acceptance of mental health expertise in future cases.

Temporal lobe epileptic signs and correlative behaviors displayed by normal populations.

PubMed

Persinger, M A; Makarec, K

1987-04-01

With regard to epileptic signs and correlative behaviors, one hypothesis is that the experiences and nonconvulsive behaviors of patients with electrical foci within the temporal lobe are also displayed, but with less intensity, by normal people. If this is correct, then there should be quantitative relationships between the numbers of major complex partial epileptic signs (CPES) and the occurrence of other frequent clinical experiences and behaviors. An inventory to answer this question was developed. Over a 3-year period, 414 (6 groups) university students were administered an inventory that included themes of CPES as well as control and information items. Strong correlations were consistently found between CPES scores and reports of paranormal (mystical, with religious overtones) experiences and "a sense of presence." Results from three personality (CPI, MMPI, and IPAT anxiety) inventories clearly demonstrated similar profiles. In addition to being more anxious, people who displayed higher CPES scores were more suspicious, aloof, stereotyped in their behavior, ruminative (overthinking), intellectually inefficient, and overly judgmental. CPES scores were significantly (p less than .001) correlated with the schizophrenia and mania subscales of the MMPI. The results suggest that functional hyperconnectionism of cortical-limbic systems within the brain may be more prevalent in the normal population than previously suspected.

Adaptation and Validation of the Tower of London Test of Planning and Problem Solving in People with Intellectual Disabilities

ERIC Educational Resources Information Center

Masson, J. D.; Dagnan, D.; Evans, J.

2010-01-01

Background: There is a need for validated, standardised tools for the assessment of executive functions in adults with intellectual disabilities (ID). This study examines the validity of a test of planning and problem solving (Tower of London) with adults with ID. Method: Participants completed an adapted version of the Tower of London (ToL) while…

Mediation between Staff and Elderly Persons with Intellectual Disability with Alzheimer Disease as a Means of Enhancing Their Daily Functioning

ERIC Educational Resources Information Center

Lifshitz, Hefziba; Klein, Pnina S.

2011-01-01

This study presents a new way of mediation between staff and elderly persons with intellectual disability (ID) and Alzheimer type dementia (AD), i.e., the MISC (Mediational Intervention for Sensitizing Caregivers (Klein, 1988, 2003) model. The MISC was adopted for interactions between staff and adults with ID and AD based on observations of…

A Review of Research on Direct-Care Staff Data Collection Regarding the Severity and Function of Challenging Behavior in Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

Madsen, Emily K.; Peck, Janelle A.; Valdovinos, Maria G.

2016-01-01

In working with individuals with intellectual and developmental disabilities (IDDs), it is direct care staff who are often required to collect data on individuals' behavior which is used as the basis for implementation of empirically based approaches for intervention and treatment. Due to limited resources, indirect and descriptive measures of…

The Study of Life Review. An Approach to the Investigation of Intellectual Development across the Life Span. Studien und Berichte 47.

ERIC Educational Resources Information Center

Staudinger, Ursula M.

A study looked for age differences in the quality of responses to the Life Review Task (LRT), studied the LRT itself as a tool for exploring wisdom and intellectual functioning in adulthood, and considered personality characteristics and life experience as alternative predictors of response quality. Sixty-three West German women of different ages…

A review of cognitive impairments in children with intellectual disabilities: Implications for cognitive behaviour therapy.

PubMed

Hronis, Anastasia; Roberts, Lynette; Kneebone, Ian I

2017-06-01

Nearly half of children with intellectual disability (ID) have comorbid affective disorders. These problems are chronic if left untreated and can significantly impact upon future vocational, educational, and social opportunities. Despite this, there is a paucity of research into effective treatments for this population. Notably, one of the most supported of psychological therapies, cognitive behaviour therapy (CBT), remains largely uninvestigated in children with ID. The current review considers the neuropsychological profile of children and adolescents with mild to moderate ID, with a view to informing how CBT might best be adapted for children and adolescents with ID. Narrative review of literature considering the neuropsychological profiles of children and adolescents with ID, with specific focus upon attention, memory, learning, executive functioning, and communication. Studies were identified through SCOPUS, PsycINFO, and PubMed databases, using combinations of the key words 'intellectual disability', 'learning disability', 'neuropsychology', 'attention', 'learning', 'memory', 'executive function', 'language', and 'reading'. Children with ID have significant deficits in attention, learning, memory, executive functions, and language. These deficits are likely to have a negative impact upon engagement in CBT. Suggestions for adapting therapy to accommodate these wide ranging deficits are proposed. There are multiple cognitive factors which need to be considered when modifying CBT for children who have ID. Furthermore, research is required to test whether CBT so modified is effective in this population. Clinical implications Effective ways of providing cognitive behavioural therapy (CBT) to children with intellectual disability (ID) is unclear. This study provides a framework of potential adaptations for clinical practice As rates of mental illness for children with intellectual disability are high, and rates of treatment provision low, it is hoped that the recommendations provided in this study will encourage more mental health practitioners to provide CBT to children with ID. Limitations These recommendations are based only upon neuropsychological literature. Trialling the effectiveness of an adapted form of CBT for children and adolescents with ID is required. There are varying causes of intellectual disability, with differences in cognitive profiles. The utility of the recommendations made here may vary according to specific aetiologies. © 2017 The British Psychological Society.

Sterilization and Training for Normal Sexual Development: Human Rights and Obligations.

ERIC Educational Resources Information Center

Ashman, Adrian F.

1990-01-01

This paper notes the lack of attention given to the sexuality of people with intellectual disabilities in both the literature and service delivery (in Australia). It discusses sterilization issues (such as authority to give consent and the "best interest" concept) and recommends approaches less intrusive on individual rights than…

The Alchemy of the Mathematics Curriculum: Inscriptions and the Fabrication of the Child

ERIC Educational Resources Information Center

Popkewitz, Thomas

2004-01-01

School subjects are analogous to medieval alchemy. There is a magical change as mathematics, science, and social sciences move from their disciplinary spaces into the classroom. The educational and social psychologies have little or nothing to do with understanding disciplinary practices. They are intellectual inventions for normalizing and…

Standardized Test Results, 1972-75: KEEP and Selected Comparison Groups. Technical Report #36.

ERIC Educational Resources Information Center

Antill, Ellen

To verify the assumption that research activities do not interfere with the normal instruction given to students in the demonstration school of the Kamehameha Early Education Program (KEEP), each class's educational and intellectual achievement was assessed, and comparisons were made with other classes in Hawaii. This report compares the results…

Communication without Speech: A Guide for Parents and Teachers.

ERIC Educational Resources Information Center

Bloomberg, Karen, Ed.; Johnson, Hilary, Ed.

This guide addresses issues facing the parents, teachers and caregivers of children who are unable to use normal speech as a means of communication. It focuses on people who are intellectually disabled or children who are starting to use augmentative communication. The guide includes the following topics: the nature of communication; an overview…

Normalization Fifty Years Beyond--Current Trends in the Nordic Countries

ERIC Educational Resources Information Center

Tossebro, Jan; Bonfils, Inge S.; Teittinen, Antti; Tideman, Magnus; Traustadottir, Rannveig; Vesala, Hannu T.

2012-01-01

The authors discuss recent developments in services for people with intellectual disabilities (ID) in the Nordic countries. They note that all of the countries saw important reforms during the 1990s, regarding both deinstitutionalization and decentralization. However, they posit that the litmus test of the reforms is not what happens during reform…

Grace and Courtesy in the Elementary Community

ERIC Educational Resources Information Center

Huneke-Stone, Elise

2015-01-01

Don't be fooled by Elise Huneke-Stone's disarming beginning where she implies that grace and courtesy is not normally associated with the elementary. She goes on to elaborate that grace and courtesy is indeed everywhere: in project-based learning, understanding of moral precepts, social and intellectual independence, in the utilization of empathy,…

[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

PubMed

Hu, Ting; Zhu, Hongmei; Zhang, Zhu; Wang, Jiamin; Liu, Hongqian; Zhang, Xuemei; Zhang, Haixia; Du, Ze; Li, Lingping; Wang, He; Liu, Shanling

2017-04-10

To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV). CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.

Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU).

PubMed

Simon, Eva; Schwarz, Martin; Roos, Judith; Dragano, Nico; Geraedts, Max; Siegrist, Johannes; Kamp, Gudrun; Wendel, Udo

2008-03-26

Normal intellectual and personal development can be expected in early-diagnosed and treated PKU patients. Aim of the study was to analyse quality of life and social status, which are important parameters for an overall estimation of success of treatment apart from intellectual outcome in adult PKU patients. 67 patients completed a questionnaire on quality of life and social status. Data was compared to the German census on an age matched control collective. Quality of life measured with the Profile of Quality of Life in the Chronically Ill (PLC) revealed mean values for capacity of performance in the patient group in the same range as in the control collective. The analysis of the social state of PKU patients revealed a tendency towards lower or delayed autonomy, and a low rate of forming normal adult relationships in which to have children. Schooling and professional career corresponded approximately to the control collective. Though every chronic disorder must be regarded as restraining, it shows that PKU does not preclude healthy emotional adjustment when the disease is diagnosed early and treated well.

Skill-related physical fitness versus aerobic fitness as a predictor of executive functioning in children with intellectual disabilities or borderline intellectual functioning.

PubMed

Hartman, Esther; Smith, Joanne; Houwen, Suzanne; Visscher, Chris

2017-05-01

Children with intellectual disabilities (ID) or borderline intellectual disabilities (BIF) often demonstrate impairments in executive functioning (EF). Studies in typically developing children show that aerobic fitness (AF) is positively related with EF. Skill-related physical fitness (SF) might, however, be a stronger predictor of EF than AF, as cognitive challenges are inherent in application of these skills. In this study, AF and SF were examined simultaneously in relationship with domains of EF in children with ID or BIF. Seventy-three children (age range 8-11; 51 boys) with ID (IQ range 56-79) or BIF (IQ range 71-79) were measured annually over a period of 4 years on AF (20-m endurance shuttle run test) and SF (plate tapping and 10×5m run). EF was measured with the Stroop Color-Word test (inhibition), Trailmaking and Fluency test (cognitive flexibility), Self-ordered pointing task (working memory) and the Tower of London (planning). Multilevel models showed that SF was significantly associated with inhibition and both measures of cognitive flexibility, but in the same models no significant associations between AF and EF were found. In addition, age was significantly related to working memory and cognitive flexibility, favouring the older children. In children with ID or BIF, SF is of greater importance than AF in relationship with core domains of EF. Copyright © 2017 Elsevier Ltd. All rights reserved.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

PubMed

Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K; Lüdecke, Hermann-Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M; Wieland, Thomas; Andrieux, Joris; Strom, Tim M; Wieczorek, Dagmar; Dieux-Coëslier, Anne; Zink, Alexander M

2017-02-01

Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay. The present report describes three patients without anophthalmia/microphthalmia and loss-of-function mutations or microdeletions of SOX2 who had been investigated in a "genotype first" manner due to intellectual disability/developmental delay using whole exome sequencing or chromosomal microarray analyses. This result prompted us to perform SOX2 Sanger sequencing in 192 developmental delay/intellectual disability patients without anophthalmia or microphthalmia. No additional SOX2 loss-of-function mutations were detected in this cohort, showing that SOX2 is clearly not a major cause of intellectual disability without anophthalmia/microphthalmia. In our three patients and four further, reported "genotype first" SOX2 microdeletion patients, anophthalmia/microphthalmia was present in less than half of the patients. Thus, SOX2 is another example of a gene whose clinical spectrum is broadened by the generation of "genotype first" findings using hypothesis-free, genome-wide methods. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Defining and Applying a Functionality Approach to Intellectual Disability

ERIC Educational Resources Information Center

Luckasson, R.; Schalock, R. L.

2013-01-01

Background: The current functional models of disability do not adequately incorporate significant changes of the last three decades in our understanding of human functioning, and how the human functioning construct can be applied to clinical functions, professional practices and outcomes evaluation. Methods: The authors synthesise current…

QEEG characteristics and spectrum weighted frequency for children diagnosed as autistic spectrum disorder.

PubMed

Pop-Jordanova, Nada; Zorcec, Tatjana; Demerdzieva, Aneta; Gucev, Zoran

2010-09-30

Autistic spectrum disorders are a group of neurological and developmental disorders associated with social, communication, sensory, behavioral and cognitive impairments, as well as restricted, repetitive patterns of behavior, activities, or interests.The aim of this study was a) to analyze QEEG findings of autistic patients and to compare the results with data base; and b) to introduce the calculation of spectrum weighted frequency (brain rate) as an indicator of general mental arousal in these patients. Results for Q-EEG shows generally increased delta-theta activity in frontal region of the brain. Changes in QEEG pattern appeared to be in a non-linear correlation with maturational processes.Brain rate measured in CZ shows slow brain activity (5. 86) which is significantly lower than normal and corresponds to low general mental arousal.Recent research has shown that autistic disorders have as their basis disturbances of neural connectivity. Neurofeedback seems capable of remediating such disturbances when these data are considered as part of treatment planning. Prognosis of this pervasive disorder depends on the intellectual abilities: the better intellectual functioning, the possibilities for life adaptation are higherQEEG shows generally increased delta-theta activity in frontal region of the brain which is related to poor cognitive abilities.Brain rate measured in CZ shows slow brain activity related to under arousal.Pharmacotherapy combined with behavior therapy, social support and especially neurofeedback technique promise slight improvements.

The physical health of British adults with intellectual disability: cross sectional study.

PubMed

Emerson, Eric; Hatton, Chris; Baines, Susannah; Robertson, Janet

2016-01-20

Adults with intellectual disability have poorer health than their non-disabled peers. However, little is known about the health of the 'hidden majority' of adults with primarily mild intellectual disability who do not use intellectual disability services. The aims of the present study were: to estimate the physical health status of a population-based sample of British adults with and without mild intellectual disability while controlling for any potentially confounding effects resulting from between-group differences in gender, age, socio-economic disadvantage and neighborhood social capital. Secondary analysis of data from Understanding Society, a new longitudinal study focusing on the life experiences of UK citizens. We identified 299 participants aged 16-49 (1.2 % of the unweighted age-restricted sample) as having intellectual disability, and 22,927 as not having intellectual disability. Multivariate logistic regression was used to investigate between group differences adjusting for potential confounding personal characteristics (e.g., gender). Unadjusted comparisons indicated that British adults with intellectual disability have markedly poorer health than their non-disabled peers on the majority of indicators investigated including self-rated health, multiple morbidity, arthritis, cancer, diabetes, obesity, measured grip strength, measured lung function and polypharmacy. Adjusting for between-group differences in age and gender had a marginal impact on these estimates. Further adjusting for between-group differences in socio-economic disadvantage and neighborhood quality had a more marked impact on estimates with the number of statistically significant differences reducing from 13 to 8 and statistically significant attenuation of odds on three indicators (self-rated health, SF-12 physical component and multiple morbidity). The 'hidden majority' of adults with primarily mild intellectual disability who do not use intellectual disability services have significantly poorer health than their non-disabled peers. This may, in part, reflect their increased risk of exposure to well established 'social determinants' of poorer health.

Problem and pro-social behavior among Nigerian children with intellectual disability: the implication for developing policy for school based mental health programs

PubMed Central

2010-01-01

Background School based mental health programs are absent in most educational institutions for intellectually disabled children and adolescents in Nigeria and co-morbid behavioral problems often complicate intellectual disability in children and adolescents receiving special education instructions. Little is known about prevalence and pattern of behavioral problems existing co-morbidly among sub-Saharan African children with intellectual disability. This study assessed the prevalence and pattern of behavioral problems among Nigerian children with intellectual disability and also the associated factors. Method Teachers' rated Strengths and Difficulties Questionnaire (SDQ) was used to screen for behavioral problems among children with intellectual disability in a special education facility in south eastern Nigeria. Socio-demographic questionnaire was used to obtain socio-demographic information of the children. Results A total of forty four (44) children with intellectual disability were involved in the study. Twenty one (47.7%) of the children were classified as having behavioral problems in the borderline and abnormal categories on total difficulties clinical scale of SDQ using the cut-off point recommended by Goodman. Mild mental retardation as compared to moderate, severe and profound retardation was associated with highest total difficulties mean score. Males were more likely to exhibit conduct and hyperactivity behavioral problems compared to the females. The inter-clinical scales correlations of teachers' rated SDQ in the studied population also showed good internal consistency (Cronbach Alpha = 0.63). Conclusion Significant behavioral problems occur co-morbidly among Nigerian children with intellectual disability receiving special education instructions and this could impact negatively on educational learning and other areas of functioning. There is an urgent need for establishing school-based mental health program and appropriate screening measure in this environment. These would afford early identification of intellectually disabled children with behavioral problems and appropriate referral for clinical evaluation and interventions. The need to focus policy making attention on hidden burden of intellectual disability in sub-Saharan African children is essential. PMID:20465841

[Psychiatric disorders and neurological comorbidity in children with intellectual disability].

PubMed

Wriedt, Elke; Wiberg, Anja; Sakar, Vehbi; Noterdaeme, Michele

2010-05-01

This article gives an overview of the consultant child and adolescent psychiatric services in the region of Upper Bavaria (Germany). The data of 257 children and adolescents with intellectual disability and psychiatric disorders were evaluated. About 14% of the children with ID in special schools or day care centers, and 40% of the children with ID in residential care showed a definite psychiatric disorder. The most frequently diagnosed disorders were adjustment disorders, hyperkinetic disorders and conduct disorders, as well as emotional problems and pervasive developmental disorders. Children with severe intellectual disability had more additional somatic disorders and were more impaired in their psychosocial functions. The results show the need for psychiatric services for children and adolescents with intellectual disability and psychiatric disorders. The development and implementation of integrative and interdisciplinary models is necessary to allow for adequate medical care for these patients.

Young adults with intellectual disability transitioning from school to post-school: a literature review framed within the ICF.

PubMed

Foley, K-R; Dyke, P; Girdler, S; Bourke, J; Leonard, H

2012-01-01

The purpose of this review was to describe literature relating to transition for young people with an intellectual disability and identify gaps within the current knowledge base. A narrative literature review was undertaken. Searches of databases Medline, CINAHL, PsycINFO, ERIC, ISI Web of Science and ProQuest 500 International provided relevant research articles. The search terms used were intellectual disability, transition, employment, and ICF as well as other terms derived from the ICF. Manual searches of reference lists identified additional studies. Furthermore, government websites were searched for relevant reports and policies. Transition literature was explored by ICF domains; body functions and structures, activity and participation and contextual factors. Studies were identified in some but not all areas and included literature describing self-determination and participation in leisure activities for those with mild intellectual disability. However, significant gaps were found particularly for those with severe intellectual disability. The ICF is a useful tool in framing a review of transition literature for young people with intellectual disability due to the complexity and multi-faceted nature of transition. The important influence of environmental factors including family systems, post-school services and access to transport were highlighted as having considerable impacts on transition outcomes.

Extracurricular activities and the development of social skills in children with intellectual and specific learning disabilities.

PubMed

Brooks, B A; Floyd, F; Robins, D L; Chan, W Y

2015-07-01

Children with intellectual disability and specific learning disabilities often lack age-appropriate social skills, which disrupts their social functioning. Because of the limited effectiveness of classroom mainstreaming and social skills training for these children, it is important to explore alternative opportunities for social skill acquisition. Participation in social activities is positively related to children's social adjustment, but little is known about the benefits of activity participation for children with intellectual and specific learning disabilities. This study investigated the association between frequency and type of social activity participation and the social competence of 8-11-year-old children with intellectual disability (n = 40) and specific learning disabilities (n = 53), in comparison with typically developing peers (n = 24). More time involved in unstructured activities, but not structured activities, was associated with higher levels of social competence for all children. This association was strongest for children with intellectual disability, suggesting that participation in unstructured social activities was most beneficial for these children. Future research on the quality of involvement is necessary to further understand specific aspects of unstructured activities that might facilitate social development. © 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Effect of prenatal and postnatal malnutrition on intellectual functioning in early school-aged children in rural western China

PubMed Central

Li, Chao; Zhu, Ni; Zeng, Lingxia; Dang, Shaonong; Zhou, Jing; Yan, Hong

2016-01-01

Abstract The aim of this study was to evaluate the effect of prenatal and postnatal malnutrition on the intellectual functioning of early school-aged children. We followed the offspring of women who had participated in a trial of prenatal supplementation with different combinations of micronutrients and who remained resident in the study field. We measured their intellectual functioning using the Wechsler intelligence scale for children (WISC-IV). Height-for-age, weight-for-age, and body mass index (BMI)-for-age were used as anthropometric nutritional status indices. Four of the 5 composite scores derived from the WISC-IV, except for working memory index (WMI), were significantly lower in low birth weight children after adjusting for confounds. All 5 composite scores, including full-scale intelligence quotient (FSIQ), verbal comprehension index (VCI), WMI, perceptual reasoning index (PRI), and processing speed index (PSI) were significant lower in stunted and underweight children. The differences in the means of WISC-IV test scores were greatest between stunted and nonstunted children. The means for FSIQ, VCI, WMI, PRI, and PSI were as follows: 5.88 (95% confidence interval [CI]: 2.84–8.92), 5.08 (95% CI: 1.12–8.41), 4.71 (95% CI: 1.78–7.66), 6.13 (95% CI: 2.83–9.44), and 5.81 (95% CI: 2.61–9.00). These means were lower in stunted children after adjusting for confounds. Our results suggest the important influences of low birth weight and postnatal malnutrition (stunting, low body weight) on intellectual functioning in early school-aged children. PMID:27495020

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

PubMed

Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

2011-05-01

We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy). Copyright © 2011 Wiley-Liss, Inc.

Effects of the CD-Rom Version of the "Self-Advocacy Strategy" on Quality of Contributions in IEP Meetings of High School Students with Intellectual Disability

ERIC Educational Resources Information Center

Cease-Cook, Jennifer; Test, David W.; Scroggins, La' Shawndra

2013-01-01

This study used a multiple-probe across participants design to examine the effects of the CD-Rom version of the "Self-Advocacy Strategy" on quality of contributions in Individual Education Plan (IEP) meetings of five high school students with intellectual disability. Results indicated a functional relationship between using the CD-Rom…

Lagging skills contribute to challenging behaviors in children with autism spectrum disorder without intellectual disability.

PubMed

Maddox, Brenna B; Cleary, Patrick; Kuschner, Emily S; Miller, Judith S; Armour, Anna Chelsea; Guy, Lisa; Kenworthy, Lauren; Schultz, Robert T; Yerys, Benjamin E

2017-08-01

Many children with autism spectrum disorder display challenging behaviors. These behaviors are not limited to those with cognitive and/or language impairments. The Collaborative and Proactive Solutions framework proposes that challenging behaviors result from an incompatibility between environmental demands and a child's "lagging skills." The primary Collaborative and Proactive Solutions lagging skills-executive function, emotion regulation, language, and social skills-are often areas of weakness for individuals with autism spectrum disorder. The purpose of this study was to evaluate whether these lagging skills are associated with challenging behaviors in youth with autism spectrum disorder without intellectual disability. Parents of 182 youth with autism spectrum disorder (6-15 years) completed measures of their children's challenging behaviors, executive function, language, emotion regulation, and social skills. We tested whether the Collaborative and Proactive Solutions lagging skills predicted challenging behaviors using multiple linear regression. The Collaborative and Proactive Solutions lagging skills explained significant variance in participants' challenging behaviors. The Depression (emotion regulation), Inhibit (executive function), and Sameness (executive function) scales emerged as significant predictors. Impairments in emotion regulation and executive function may contribute substantially to aggressive and oppositional behaviors in school-age youth with autism spectrum disorder without intellectual disability. Treatment for challenging behaviors in this group may consider targeting the incompatibility between environmental demands and a child's lagging skills.

[Cognitive capacity in advanced age: initial results of the Berlin Aging Study].

PubMed

Lindenberger, U; Baltes, P B

1995-01-01

This study reports data on intellectual functioning in old and very old age from the Berlin Aging Study (N = 516; age range = 70-103 years; mean age = 85 years). A psychometric battery of 14 tests was used to assess five cognitive abilities: reasoning, memory, and perceptual speed from the broad fluid-mechanical as well as knowledge and fluency from the broad crystallized-pragmatic domains. Cognitive abilities had a negative linear relationship with age, with more pronounced age-based reductions in fluid-mechanical than crystallized-pragmatic abilities. At the same time, ability intercorrelations formed a highly positive manifold, and did not follow the fluid-crystallized distinction. Interindividual variability was of about equal magnitude across the entire age range studied. There was, however, no evidence for substantial sex differences. As to origins of individual differences, indicators of sensory and sensorimotor functioning were more powerful predictors of intellectual functioning than cultural-biographical variables, and the two sets of predictors were, consistent with theoretical expectations, differentially related to measures of fluid-mechanical (perceptual speed) and crystallized pragmatic (knowledge) functioning. Results, in general indicative of sizeable and general losses with age, are consistent with the view that aging-induced biological influences are a prominent source of individual differences in intellectual functioning in old and very old age. Longitudinal follow-ups are underway to examine the role of cohort effects, selective mortality, and interindividual differences in change trajectories.

Using the concrete-representational-abstract approach to support students with intellectual disability to solve change-making problems.

PubMed

Bouck, Emily; Park, Jiyoon; Nickell, Barb

2017-01-01

The Concrete-Representational-Abstract (CRA) instructional approach supports students with disabilities in mathematics. Yet, no research explores the use of the CRA approach to teach functional-based mathematics for this population and limited research explores the CRA approach for students who have a disability different from a learning disability, such as an intellectual disability. This study investigated the effects of using the CRA approach to teach middle school students in a self-contained mathematics class focused on functional-based mathematics to solve making change problems. Researchers used a multiple probe across participants design to determine if a functional relation existed between the CRA strategy and students' ability to solve making change problems. The study of consisted of five-to-eight baseline sessions, 9-11 intervention sessions, and two maintenance sessions for each student. Data were collected on percentage of making change problems students solved correctly. The CRA instructional strategy was effective in teaching all four participants to correctly solve the problems; a functional relation between the CRA approach and solving making change with coins problems across all participants was found. The CRA instructional approach can be used to support students with mild intellectual disability or severe learning disabilities in learning functional-based mathematics, such as purchasing skills (i.e., making change). Copyright © 2016 Elsevier Ltd. All rights reserved.

Psychopathological manifestations of children with intellectual disabilities according to their cognitive and adaptive behavior profile.

PubMed

Tremblay, Karine N; Richer, Louis; Lachance, Lise; Côté, Alain

2010-01-01

Children with intellectual disabilities show deficits in cognitive abilities and adaptive behavior which increase the risk of psychopathological disorders. This exploratory study aims at delineating profiles of children based on their cognitive functioning and adaptive behaviors, and to compare them on psychopathological manifestations. A cognitive assessment and an evaluation of adaptive behaviors are conducted with 52 school-age children receiving services from a rehabilitation center for people with intellectual disabilities. Adaptive behaviors are evaluated by a special educator and a questionnaire concerning psychopathology is filled out by a parent and a teacher. Cluster analyses highlight three profiles among children: Performing, Uncooperative and Non-performing. They differ on cognitive functions, collaboration and in terms of practical abilities of adaptive behaviors. Chi-square tests show significant differences in social competences, but not in problematic behaviors, according to the viewpoint of parents and teachers. Potential explanations are provided to understand the absence of significant differences in problematic behaviors between the three profiles.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

PubMed

Kloth, Katja; Denecke, Jonas; Hempel, Maja; Johannsen, Jessika; Strom, Tim M; Kubisch, Christian; Lessel, Davor

2017-09-01

Ankyrin-G, encoded by ANK3, plays an important role in neurodevelopment and neuronal function. There are multiple isoforms of Ankyrin-G resulting in differential tissue expression and function. Heterozygous missense mutations in ANK3 have been associated with autism spectrum disorder. Further, in three siblings a homozygous frameshift mutation affecting only the longest isoform and a patient with a balanced translocation disrupting all isoforms were documented. The latter four patients were affected by a variable degree of intellectual disability, attention deficit hyperactivity disorder and autism. Here, we report on a boy with speech impairment, intellectual disability, autistic features, macrocephaly, macrosomia, chronic hunger and an altered sleeping pattern. By trio-whole-exome sequencing, we identified the first de novo nonsense mutation affecting all ANK3 transcripts. Thus, our data expand the phenotype of ANK3-associated diseases and suggest an isoform-based, phenotypic continuum between dominant and recessive ANK3-associated pathologies. Copyright © 2017. Published by Elsevier Masson SAS.

Delay of gratification: a comparison study of children with Down syndrome, moderate intellectual disability and typical development.

PubMed

Cuskelly, M; Gilmore, L; Glenn, S; Jobling, A

2016-09-01

Self-regulation has been found to be an important contributor to a range of outcomes, with delay of gratification (a self-regulatory skill) predicting better academic, social and personal functioning. There is some evidence that individuals with Down syndrome have difficulty with delay of gratification. We investigated the question of whether this difficulty is common to intellectual disability irrespective of aetiology, or whether it presents a particular problem for those with Down syndrome. The latter was considered a possibility because of language difficulties in this group. Three groups of children with a mean MA between 36 and 60 months participated in the study: children with Down syndrome (n = 32), children with a moderate intellectual disability from a cause other than Down syndrome (n = 26) and typically developing children (n = 50). Children completed a series of measures of language and cognitive functioning and participated in a delay of gratification task. The group of children with Down syndrome delayed for a significantly shorter time than either of the other two groups that did not differ from each other. Receptive language was associated with delay time for the children with Down syndrome but not for the typically developing group, nor for the group with moderate intellectual disability. Children with Down syndrome appear to have a particular difficulty with delay of gratification. Language abilities would seem to be implicated in this difficulty, although further examination of this hypothesis is required. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Chronic Stereotype Threat Is Associated With Mathematical Achievement on Representative Sample of Secondary Schoolgirls: The Role of Gender Identification, Working Memory, and Intellectual Helplessness

PubMed Central

Bedyńska, Sylwia; Krejtz, Izabela; Sedek, Grzegorz

2018-01-01

Stereotype threat affects performance in many different groups across many different domains. Despite a large body of experimental research on situational stereotype threat, little attention has been paid to the consequences of repeated experience of stereotype threat. Using structural equation modeling on data from a representative sample of girls from secondary schools, the current research examined the relations of chronic stereotype threat with mathematical achievement, and effectiveness of working memory functions. Moving beyond past theory, this study examined a new mechanism by which chronic stereotype threat decreases school achievement – namely intellectual helplessness. We assumed that repeated experience of stereotype threat works as intellectual helplessness training. After the phase of cognitive mobilization, cognitive exhaustion appears, because the individual has no gain from intense cognitive effort. Corroborating previous research on acute stereotype threat, we demonstrated that chronic stereotype threat is negatively associated with mathematical achievement. Additionally, it was also associated with lower effectiveness of working memory functions, which seems to show depletion of working memory as an effect of chronic stereotype threat. The results also demonstrated that both mediational paths from chronic stereotype threat to mathematical achievement: through working memory depletion and through intellectual helplessness were significant but only for girls that were highly identified with their gender group. In sum, we extended a well-established model of acute stereotype threat to its chronic version and suggested a new mechanism of chronic stereotype threat, which involves intellectual helplessness. Implications for stereotype threat theory and educational practice are discussed. PMID:29666599

Chronic Stereotype Threat Is Associated With Mathematical Achievement on Representative Sample of Secondary Schoolgirls: The Role of Gender Identification, Working Memory, and Intellectual Helplessness.

PubMed

Bedyńska, Sylwia; Krejtz, Izabela; Sedek, Grzegorz

2018-01-01

Stereotype threat affects performance in many different groups across many different domains. Despite a large body of experimental research on situational stereotype threat, little attention has been paid to the consequences of repeated experience of stereotype threat. Using structural equation modeling on data from a representative sample of girls from secondary schools, the current research examined the relations of chronic stereotype threat with mathematical achievement, and effectiveness of working memory functions. Moving beyond past theory, this study examined a new mechanism by which chronic stereotype threat decreases school achievement - namely intellectual helplessness. We assumed that repeated experience of stereotype threat works as intellectual helplessness training. After the phase of cognitive mobilization, cognitive exhaustion appears, because the individual has no gain from intense cognitive effort. Corroborating previous research on acute stereotype threat, we demonstrated that chronic stereotype threat is negatively associated with mathematical achievement. Additionally, it was also associated with lower effectiveness of working memory functions, which seems to show depletion of working memory as an effect of chronic stereotype threat. The results also demonstrated that both mediational paths from chronic stereotype threat to mathematical achievement: through working memory depletion and through intellectual helplessness were significant but only for girls that were highly identified with their gender group. In sum, we extended a well-established model of acute stereotype threat to its chronic version and suggested a new mechanism of chronic stereotype threat, which involves intellectual helplessness. Implications for stereotype threat theory and educational practice are discussed.

Measures of readiness for cognitive behavioural therapy in people with intellectual disability: A systematic review.

PubMed

Stott, Joshua; Charlesworth, Georgina; Scior, Katrina

2017-01-01

Cognitive behavioural therapy (CBT) is a promising treatment for mental health problems in people with intellectual disabilities but some may not be suited or ready. This review critically evaluates the quality and utility of measures of CBT readiness in people with intellectual disabilities. Twelve studies of six measures based on three aspects of CBT readiness were identified through systematic review. Across measures, measurement quality was largely poor or un-assessed. Only one study evaluated measurement change over the course of CBT. Not all participants with intellectual disabilities could 'pass' readiness measures and performance may be affected by levels of language and cognitive functioning. There was some evidence that CBT readiness is trainable with brief interventions. Before using readiness measures in a clinical context, further work is needed to extend initial evidence on recognising cognitive mediation as a CBT readiness ability. Given the lack of consensus as to the definition of CBT readiness and the heterogeneity of CBT interventions, future research could also focus on developing readiness measures using a bottom up approach, developing measures within the context of CBT interventions themselves, before further refining and establishing their psychometric properties. This paper is the first to systematically review measures of skills thought necessary to be ready for cognitive behavioural therapy in intellectual disabilities. The findings suggest that while readiness skills may be trainable with brief interventions, the available measures of these skills have not been fully evaluated for quality. Levels of functioning on these measures have yet to be established relative to those without intellectual disabilities and critically, there is very little evidence as to whether these skills are important in cognitive behavioural therapy process and outcome. We suggest that future research could focus on those constructs where there is preliminary evidence for utility such as recognising cognitive mediation and also on developing the concept of readiness perhaps by developing measures within the context of specific CBT interventions. Until this is done, clinicians should exercise caution in using these measures to assess readiness for cognitive behavioural therapy in people with intellectual disabilities. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Effect of Galvanic Vestibular Stimulation on Postural Response of Down Syndrome Individuals on the Seesaw

ERIC Educational Resources Information Center

Carvalho, R. L.; Almeida, G. L.

2011-01-01

In order to better understand the role of the vestibular system in postural adjustments on unstable surfaces, we analyzed the effects of galvanic vestibular stimulation (GVS) on the pattern of muscle activity and joint displacements (ankle knee and hip) of eight intellectually normal participants (control group--CG) and eight control group…

Performance of Cerebral Palsied Children under Conditions of Reduced Auditory Input on Selected Intellectual, Cognitive and Perceptual Tasks.

ERIC Educational Resources Information Center

Fassler, Joan

The study investigated the task performance of cerebral palsied children under conditions of reduced auditory input and under normal auditory conditions. A non-cerebral palsied group was studied in a similar manner. Results indicated that cerebral palsied children showed some positive change in performance, under conditions of reduced auditory…

Recognition of Emotion in Facial Expression by People with Prader-Willi Syndrome

ERIC Educational Resources Information Center

Whittington, J.; Holland, T.

2011-01-01

Background: People with Prader-Willi syndrome (PWS) may have mild intellectual impairments but less is known about their social cognition. Most parents/carers report that people with PWS do not have normal peer relationships, although some have older or younger friends. Two specific aspects of social cognition are being able to recognise other…

The Effect of Vibration on Postural Response of Down Syndrome Individuals on the Seesaw

ERIC Educational Resources Information Center

Carvalho, Regiane Luz; Almeida, Gil Lucio

2009-01-01

In order to better understand the role of proprioception in postural adjustments on unstable surfaces, we analyzed the effect of vibration on the pattern of muscle activity and joint displacements (ankle, knee and hip) of eight intellectually normal participants (control group-CG) and eight individuals with Down syndrome (DS) while balancing on…

The road to 11th edition of the International Classification of Diseases: trajectories of scientific consensus and contested science in the classification of intellectual disability/intellectual developmental disorders.

PubMed

Salvador-Carulla, Luis; Bertelli, Marco; Martinez-Leal, Rafael

2018-03-01

To increase the expert knowledge-base on intellectual developmental disorders (IDDs) by investigating the typology trajectories of consensus formation in the classification systems up to the 11th edition of the International Classification of Diseases (ICD-11). This expert review combines an analysis of key recent literature and the revision of the consensus formation and contestation in the expert committees contributing to the classification systems since the 1950s. Historically two main approaches have contributed to the development of this knowledge-base: a neurodevelopmental-clinical approach and a psychoeducational-social approach. These approaches show a complex interaction throughout the history of IDD and have had a diverse influence on its classification. Although in theory Diagnostic and Statistical Manual (DSM)-5 and ICD adhere to the neurodevelopmental-clinical model, the new definition in the ICD-11 follows a restrictive normality approach to intellectual quotient and to the measurement of adaptive behaviour. On the contrary DSM-5 is closer to the recommendations made by the WHO 'Working Group on Mental Retardation' for ICD-11 for an integrative approach. A cyclical pattern of consensus formation has been identified in IDD. The revision of the three major classification systems in the last decade has increased the terminological and conceptual variability and the overall scientific contestation on IDD.

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

PubMed

Bartocci, Arnaldo; Striano, Pasquale; Mancardi, Maria Margherita; Fichera, Marco; Castiglia, Lucia; Galesi, Ornella; Michelucci, Roberto; Elia, Maurizio

2008-06-01

Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.

Intellectual, Adaptive, and Behavioral Functioning in Children with Urea Cycle Disorders

PubMed Central

Krivitzky, Lauren; Babikian, Talin; Lee, HyeSeung; Thomas, Nina Hattiangadi; Burk-Paull, Karen L.; Batshaw, Mark L.

2009-01-01

Inborn errors of urea synthesis lead to an accumulation of ammonia in blood and brain, and result in high rates of mortality and neurodevelopmental disability. The current study seeks to characterize the cognitive, adaptive, and emotional/behavioral functioning of children with Urea Cycle Disorders (UCDs). These domains were measured through testing and parent questionnaires in 92 children with UCDs (33 neonatal onset, 59 late onset). Results indicate that children who present with neonatal onset have poorer outcome than those who present later in childhood. Approximately half of the children with neonatal onset performed in the range of intellectual disability (ID), including a substantial number (~30%) who were severely impaired. In comparison, only a quarter of the late onset group were in the range of ID. There is also evidence that the UCD group has difficulties in aspects of emotional/behavioral and executive skills domains. In conclusion, children with UCDs present with a wide spectrum of cognitive outcomes. Children with neonatal onset disease have a much higher likelihood of having an intellectual disability, which becomes even more evident with increasing age. However, even children with late onset UCDs demonstrate evidence of neurocognitive and behavioral impairment, particularly in aspects of attention and executive functioning. PMID:19287347

Neural and cognitive plasticity: from maps to minds.

PubMed

Mercado, Eduardo

2008-01-01

Some species and individuals are able to learn cognitive skills more flexibly than others. Learning experiences and cortical function are known to contribute to such differences, but the specific factors that determine an organism's intellectual capacities remain unclear. Here, an integrative framework is presented suggesting that variability in cognitive plasticity reflects neural constraints on the precision and extent of an organism's stimulus representations. Specifically, it is hypothesized that cognitive plasticity depends on the number and diversity of cortical modules that an organism has available as well as the brain's capacity to flexibly reconfigure and customize networks of these modules. The author relates this framework to past proposals on the neural mechanisms of intelligence, including (a) the relationship between brain size and intellectual capacity; (b) the role of prefrontal cortex in cognitive control and the maintenance of stimulus representations; and (c) the impact of neural plasticity and efficiency on the acquisition and performance of cognitive skills. The proposed framework provides a unified account of variability in cognitive plasticity as a function of species, age, and individual, and it makes specific predictions about how manipulations of cortical structure and function will impact intellectual capacity. Copyright (c) 2008 APA.

[Factorial division of the visual N1 wave and functional significance].

PubMed

Munoz-Ruata, J; Caro-Martinez, E

2011-05-16

It has been argued if the frontal, N1a, is the early part of the occipito-temporal, N1b, or there are two different waves. It is also not clear whether the N1 of distractor is equivalent to the target N1, neither to distinguish these four waves has some functional value. We performed a principal component analysis of latencies and amplitudes of N1 derived from an oddball visual paradigm in a sample of 82 persons with intellectual disability, and factor scores were correlated with measures of intellectual performance on the Wechsler Intelligence Scale for Children-Fourth Edition. There is not significant dependency between N1a and N1b waves. The N1 from the target stimulus is functionally different to the N1 from the distractor. The N1a 'target' is related to the perceptual reasoning while the N1a 'distractor' is related to the working memory. The correlation between latencies and amplitudes of the target stimuli in posterior locations suggests that, similar to as observed in auditory areas, there is a visual synchronization with the prefrontal cortex; its dysfunction may explain some of the perceptual problems of people with intellectual disabilities.

A NEW LOOK AT THE EFFECTS OF ANXIETY AND STRESS ON THE PERFORMANCE OF COMPLEX INTELLECTUAL TASKS, STUDY II. SCHOOL ANXIETY AND COGNITIVE FUNCTIONING--EXPLORATORY STUDIES.

ERIC Educational Resources Information Center

DUNN, JAMES A.

THE EFFECTS OF TEST ANXIETY AND TEST STRESS ON THE PERFORMANCE OF TWO DIFFERENT INTELLECTUAL TASKS WERE STUDIED. IT WAS HYPOTHESIZED THAT THE DESCRIPTIVE EFFECTS OF ANXIETY WOULD BE GREATER FOR DIFFICULT BUT SIMPLE TASKS THAN FOR COMPLEX BUT EASY TASKS, AND THAT SITUATIONAL STRESS WOULD BE MORE DISRUPTIVE FOR COMPLEX TASKS THAN FOR SIMPLE TASKS. A…

Executive Functions in Intellectual Disabilities: A Comparison between Williams Syndrome and Down Syndrome

ERIC Educational Resources Information Center

Costanzo, Floriana; Varuzza, Cristiana; Menghini, Deny; Addona, Francesca; Gianesini, Tiziana; Vicari, Stefano

2013-01-01

Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in…

Postsurgical outcome in pediatric patients with epilepsy: a comparison of patients with intellectual disabilities, subaverage intelligence, and average-range intelligence.

PubMed

Gleissner, Ulrike; Clusmann, Hans; Sassen, Robert; Elger, Christian E; Helmstaedter, Christoph

2006-02-01

Intellectual disabilities are often associated with bilateral or diffuse morphologic brain damage. The chances of becoming seizure free after focal surgery are therefore considered to be worse in patients with intellectual disabilities. The risk of postoperative cognitive deficits could increase because diffuse brain damage lowers the patient's ability to compensate for surgically induced deficits. Several studies in adult patients have indicated that IQ alone is not a good predictor of postoperative cognitive and seizure outcome. Our study evaluated this subject in children and adolescents. Pediatric patients with intellectual disabilities (IQ < or = 70), subaverage intelligence (IQ between 71 and 85), or average-range intelligence (IQ > 85) were matched according to several clinical and etiologic criteria to determine the influence of IQ (N = 66). No dependency of seizure outcome, postoperative cognitive development, and behavioral outcome on the IQ level was found. All groups slightly improved in attention while memory functions tended to decrease and executive functions were stable. School placement remained unchanged for the majority of patients. Between 67 and 78% were seizure free 1 year after surgery (Engel outcome class I). IQ alone is not a good predictor of postoperative outcome in pediatric patients with epilepsy. As with patients of average-range intelligence, the decision to operate on patients with a low level of intelligence should depend on the results of the presurgical diagnostics. If the results of the neuropsychological examination indicate diffuse functional impairment, this should not hinder further steps, if all other findings are consistent.

42 CFR 482.61 - Condition of participation: Special medical record requirements for psychiatric hospitals.

Code of Federal Regulations, 2010 CFR

2010-10-01

...— (i) A substantiated diagnosis; (ii) Short-term and long-range goals; (iii) The specific treatment...) Describe attitudes and behavior; (6) Estimate intellectual functioning, memory functioning, and orientation...

Assistive Technology for an Inclusive Society for People with Intellectual Disability.

PubMed

Owuor, John; Larkan, Fiona

2017-01-01

People with intellectual disability (ID), are some of the most stigmatized and marginalized social groups. Ongoing global initiatives such as the United Nations Convention on the Rights of Persons with Disabilities (UNCPD) and Strategic Development Goals (SDGs) aim to accelerate their inclusion into the society. In many high-income countries, deinstitutionalization of care for people with ID forms part of the broader social inclusion agenda for people with ID into the society. Access to appropriate assistive technology (AT) can mediate the ongoing normalization/inclusion efforts for people with ID. AT can enable users with ID to access societal processes such as education, employment, socialization or independent living. Effective use of AT can also enhance the formation and/or maintenance of interpersonal relationships by people with ID, thus promote their social support.

Leveraging Social Capital of Persons With Intellectual Disabilities Through Facebook Participation: The Perspectives of Family Members and Direct Support Staff.

PubMed

Shpigelman, Carmit-Noa

2017-12-01

This study aimed to understand and describe the views of family members and direct support staff regarding the use of Facebook by persons with intellectual disability (ID) within the context of social capital. In-depth, semistructured interviews conducted with 16 family members and direct support staff of persons with ID who use Facebook revealed that most participants favored Facebook use by persons with ID for bonding and bridging social capital and for normalization. Most participants noted the empowering effect of online activity on persons with ID, yet some reported risks and usage difficulties. Although Facebook use enhances the well-being of persons with ID, findings highlighted the participants' need for formal guidelines regarding social media best-practices for people with ID.

Intellectual maturity and physical fitness in preschool children.

PubMed

Latorre-Román, Pedro Á; Mora-López, David; García-Pinillos, Felipe

2016-06-01

There is an important connection between body growth, physical fitness and cognition. The association between physical fitness and cognitive function has been investigated in some studies, but little is known about the relationship between physical and motor performance and intellectual maturity in preschool children. The aim of this study was therefore to analyze the association between intellectual maturity and physical and motor fitness in preschool children. A total of 1012 children aged 3-6 years participated voluntarily. A fitness test battery and the Goodenough-Harris drawing test (GHDT) were used. Boys did better in the standing broad jump and 20 m sprint (P < 0.001), and girls had a better crude GHDT score (P = 0.001). With regard to age group, there were significant differences (P < 0.01) between all groups in all fitness test variables and GHDT. Moreover, a significant correlation was found between crude GHDT score and the fitness test variables. From an early age, physical-motor performance and intellectual maturity are linked. Fitness condition is able to predict intellectual maturity. Increasing the amount of time devoted to physical education can promote cognitive benefits in preschool children. © 2015 Japan Pediatric Society.

A consideration of cognitive factors in the learning and education of older adults

NASA Astrophysics Data System (ADS)

Fry, Prem S.

1992-07-01

The purpose of this paper is to consider the unique cognitive and intellectual factors that influence the learning and education of older adults. With this objective in mind, the paper reviews the empirical literature on patterns of intellectual and cognitive aging, and ends by discussing the implications and applications of these patterns for the practical and effective education of our elderly citizenry. When we consider the aging of intellectual abilities we are concerned with studying the development of fluid, crystallized and practical intelligence and variations in these abilities from adulthood into advanced old age. We are also concerned with looking at changes in cognitive functions such as attention, memory, information retrieval and tolerance for interference in learning capacity. Much recent work has been successful in showing that intellectual and cognitive decline in old age is not necessarily irreversible. While many elderly persons are very able learners, are highly self-directed, and have ample educational and intellectual resources available, others may benefit from assistance or suggestions about how to compensate for some of the cognitive declines in old age. With this objective the implications are discussed for educators and practitioners who must formulate cognitive training programs for older adults.

Dendrites are dispensable for basic motoneuron function but essential for fine tuning of behavior.

PubMed

Ryglewski, Stefanie; Kadas, Dimitrios; Hutchinson, Katie; Schuetzler, Natalie; Vonhoff, Fernando; Duch, Carsten

2014-12-16

Dendrites are highly complex 3D structures that define neuronal morphology and connectivity and are the predominant sites for synaptic input. Defects in dendritic structure are highly consistent correlates of brain diseases. However, the precise consequences of dendritic structure defects for neuronal function and behavioral performance remain unknown. Here we probe dendritic function by using genetic tools to selectively abolish dendrites in identified Drosophila wing motoneurons without affecting other neuronal properties. We find that these motoneuron dendrites are unexpectedly dispensable for synaptic targeting, qualitatively normal neuronal activity patterns during behavior, and basic behavioral performance. However, significant performance deficits in sophisticated motor behaviors, such as flight altitude control and switching between discrete courtship song elements, scale with the degree of dendritic defect. To our knowledge, our observations provide the first direct evidence that complex dendrite architecture is critically required for fine-tuning and adaptability within robust, evolutionarily constrained behavioral programs that are vital for mating success and survival. We speculate that the observed scaling of performance deficits with the degree of structural defect is consistent with gradual increases in intellectual disability during continuously advancing structural deficiencies in progressive neurological disorders.

Analyzing the association between functional connectivity of the brain and intellectual performance

PubMed Central

Pamplona, Gustavo S. P.; Santos Neto, Gérson S.; Rosset, Sara R. E.; Rogers, Baxter P.; Salmon, Carlos E. G.

2015-01-01

Measurements of functional connectivity support the hypothesis that the brain is composed of distinct networks with anatomically separated nodes but common functionality. A few studies have suggested that intellectual performance may be associated with greater functional connectivity in the fronto-parietal network and enhanced global efficiency. In this fMRI study, we performed an exploratory analysis of the relationship between the brain's functional connectivity and intelligence scores derived from the Portuguese language version of the Wechsler Adult Intelligence Scale (WAIS-III) in a sample of 29 people, born and raised in Brazil. We examined functional connectivity between 82 regions, including graph theoretic properties of the overall network. Some previous findings were extended to the Portuguese-speaking population, specifically the presence of small-world organization of the brain and relationships of intelligence with connectivity of frontal, pre-central, parietal, occipital, fusiform and supramarginal gyrus, and caudate nucleus. Verbal comprehension was associated with global network efficiency, a new finding. PMID:25713528

Cognitive predictors of adaptive functioning in children with symptomatic epilepsy.

PubMed

Kerr, Elizabeth N; Fayed, Nora

2017-10-01

The current study sought to understand the contribution of the attention and working memory challenges experienced by children with active epilepsy without an intellectual disability to adaptive functioning (AF) while taking into account intellectual ability, co-occurring brain-based psychosocial diagnoses, and epilepsy-related variables. The relationship of attention and working memory with AF was examined in 76 children with active epilepsy with intellectual ability above the 2nd percentile recruited from a tertiary care center. AF was measured using the Scales of Independent Behavior-Revised (SIB-R) and compared with norm-referenced data. Standardized clinical assessments of attention span, sustained attention, as well as basic and more complex working memory were administered to children. Commonality analysis was used to investigate the importance of the variables with respect to the prediction of AF and to construct parsimonious models to elucidate the factors most important in explaining AF. Seventy-one percent of parents reported that their child experienced mild to severe difficulties with overall AF. Similar proportions of children displayed limitations in domain-specific areas of AF (Motor, Social/Communication, Person Living, and Community Living). The reduced models for Broad and domain-specific AF produced a maximum of seven predictor variables, with little loss in overall explained variance compared to the full models. Intellectual ability was a powerful predictor of Broad and domain-specific AF. Complex working memory was the only other cognitive predictor retained in each of the parsimonious models of AF. Sustained attention and complex working memory explained a large amount of the total variance in Motor AF. Children with a previously diagnosed comorbidity displayed lower Social/Communication, Personal Living, and Broad AF than those without a diagnosis. At least one epilepsy-related variable appeared in each of the reduced models, with age of seizure onset and seizure type (generalized or partial) being the main predictors. Intellectual ability was the most powerful predictor of AF in children with epilepsy whose intellectual functioning was above the 2nd percentile. Co-occurring brain-based cognitive and psychosocial issues experienced by children with living epilepsy, particularly complex working memory and diagnosed comorbidities, contribute to AF and may be amenable to intervention. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

PubMed

Tanaka, Akemi J; Cho, Megan T; Millan, Francisca; Juusola, Jane; Retterer, Kyle; Joshi, Charuta; Niyazov, Dmitriy; Garnica, Adolfo; Gratz, Edward; Deardorff, Matthew; Wilkins, Alisha; Ortiz-Gonzalez, Xilma; Mathews, Katherine; Panzer, Karin; Brilstra, Eva; van Gassen, Koen L I; Volker-Touw, Catharina M L; van Binsbergen, Ellen; Sobreira, Nara; Hamosh, Ada; McKnight, Dianalee; Monaghan, Kristin G; Chung, Wendy K

2015-09-03

Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5). SPATA5 encodes a ubiquitously expressed member of the ATPase associated with diverse activities (AAA) protein family and is involved in mitochondrial morphogenesis during early spermatogenesis. It might also play a role in post-translational modification during cell differentiation in neuronal development. Mutations in SPATA5 might affect brain development and function, resulting in microcephaly, developmental delay, and intellectual disability. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Stigma and restriction on the social life of families of children with intellectual disabilities in Vietnam.

PubMed

Ngo, Hong; Shin, Jin Y; Nhan, Nguyen Viet; Yang, Lawrence H

2012-07-01

Intellectual disabilities are as prevalent in East Asian countries as in the West (0.06%-1.3%). Widespread discrimination against intellectual disabilities in Asia may initiate stigma that places unfair restrictions on the social life of these individuals and their caregivers. We utilised established stigma frameworks to assess the extent to which a child's intellectual disability contributes to the social exclusion of caregivers in Vietnam. A mixed quantitative and qualitative approach was employed to examine the experience of social life restriction among parents of children with intellectual disabilities. The child's disability level and restrictions on caregivers' social experiences were assessed among 70 mothers and fathers recruited from schools in Hue City, Vietnam. Qualitative responses describing social exclusion were also recorded. Caregivers reported elevated levels of social exclusion. As hypothesised, parents of children with greater intellectual disability experienced more restrictions on their social life (Beta = 0.79, 95% confidence interval 0.27-1.30, standard error = 0.26, p < 0.01). Qualitative analyses indicated that the threatening of core cultural norms (inability to be employed or married upsets community harmony) initiated labelling, social exclusion and efforts to keep the condition secret or withdraw from others. This study is among the first to demonstrate the impacts of intellectual disabilities on caregivers' social functioning in Asia. The findings illustrate how traditional Asian norms initiate stigma, which in turn restricts key social interactions among caregivers. Psycho-educational interventions may address the social domains in which caregivers are impacted and encourage sustained help-seeking among caregivers for their children.

Adaptation and validation of the Tower of London test of planning and problem solving in people with intellectual disabilities.

PubMed

Masson, J D; Dagnan, D; Evans, J

2010-05-01

There is a need for validated, standardised tools for the assessment of executive functions in adults with intellectual disabilities (ID). This study examines the validity of a test of planning and problem solving (Tower of London) with adults with ID. Participants completed an adapted version of the Tower of London (ToL) while day-centre staff completed adaptive function (Adaptive Behaviour Scale - Residential and Community: Second Edition, modified version) and dysexecutive function (DEX-Independent Rater) questionnaires for each participant. Correlation analyses of test and questionnaire variables were undertaken. The adapted ToL has a robust structure and shows significant associations with independent living skills, challenging behaviour and behaviours related to dysexecutive function. The adapted ToL is a valid test for use with people with ID. However, there is also a need to develop other ecologically valid tools based on everyday planning tasks undertaken by people with ID.

Validity of Factors of the Psychopathy Checklist–Revised in Female Prisoners

PubMed Central

Kennealy, Patrick J.; Hicks, Brian M.; Patrick, Christopher J.

2008-01-01

The validity of the Psychopathy Checklist–Revised (PCL-R) has been examined extensively in men, but its validity for women remains understudied. Specifically, the correlates of the general construct of psychopathy and its components as assessed by PCL-R total, factor, and facet scores have yet to be examined in depth. Based on previous research conducted with male offenders, a large female inmate sample was used to examine the patterns of relations between total, factor, and facet scores on the PCL-R and various criterion variables. These variables include ratings of psychopathy based on Cleckley’s criteria, symptoms of antisocial personality disorder, and measures of substance use and abuse, criminal behavior, institutional misconduct, interpersonal aggression, normal range personality, intellectual functioning, and social background variables. Results were highly consistent with past findings in male samples and provide further evidence for the construct validity of the PCL-R two-factor and four-facet models across genders. PMID:17986651

A user-friendly tool for medical-related patent retrieval.

PubMed

Pasche, Emilie; Gobeill, Julien; Teodoro, Douglas; Gaudinat, Arnaud; Vishnyakova, Dina; Lovis, Christian; Ruch, Patrick

2012-01-01

Health-related information retrieval is complicated by the variety of nomenclatures available to name entities, since different communities of users will use different ways to name a same entity. We present in this report the development and evaluation of a user-friendly interactive Web application aiming at facilitating health-related patent search. Our tool, called TWINC, relies on a search engine tuned during several patent retrieval competitions, enhanced with intelligent interaction modules, such as chemical query, normalization and expansion. While the functionality of related article search showed promising performances, the ad hoc search results in fairly contrasted results. Nonetheless, TWINC performed well during the PatOlympics competition and was appreciated by intellectual property experts. This result should be balanced by the limited evaluation sample. We can also assume that it can be customized to be applied in corporate search environments to process domain and company-specific vocabularies, including non-English literature and patents reports.

Rumination syndrome in ethiopia: a case study.

PubMed

Bruni, Andrea

2014-01-01

Eating disorders are commonly believed to be rare or nonexistent in Africa. However, due to exposure to Western culture, a rise in eating disorders among African women is reported in the literature. This case study describes a 17-year-old Ethiopian girl who meets the DSM-IV-TR and DSM-5 diagnostic criteria for bulimia nervosa and the Rome III Diagnostic Criteria for Functional Gastrointestinal Disorders criteria for rumination syndrome. The article discusses the diagnostic delays, the difficulties in terms of therapy, and the context determinants that-combined with individual psychopathological features-are thought to contribute to the disorders. Health professionals should be informed about the prevalence of eating disorders in Africa and, more specifically, of rumination syndrome in young women with normal intelligence. In light of this case study, it seems necessary to raise awareness with regard to the insufficient evidence on effective therapies for rumination syndrome in individuals without intellectual impairment.

Rumination Syndrome in Ethiopia: A Case Study

PubMed Central

2014-01-01

Eating disorders are commonly believed to be rare or nonexistent in Africa. However, due to exposure to Western culture, a rise in eating disorders among African women is reported in the literature. This case study describes a 17-year-old Ethiopian girl who meets the DSM-IV-TR and DSM-5 diagnostic criteria for bulimia nervosa and the Rome III Diagnostic Criteria for Functional Gastrointestinal Disorders criteria for rumination syndrome. The article discusses the diagnostic delays, the difficulties in terms of therapy, and the context determinants that—combined with individual psychopathological features—are thought to contribute to the disorders. Health professionals should be informed about the prevalence of eating disorders in Africa and, more specifically, of rumination syndrome in young women with normal intelligence. In light of this case study, it seems necessary to raise awareness with regard to the insufficient evidence on effective therapies for rumination syndrome in individuals without intellectual impairment. PMID:25667799

LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory.

PubMed

Seo, Bo Am; Cho, Taesup; Lee, Daniel Z; Lee, Joong-Jae; Lee, Boyoung; Kim, Seong-Wook; Shin, Hee-Sup; Kang, Myoung-Goo

2018-06-18

Mutations in the human LARGE gene result in severe intellectual disability and muscular dystrophy. How LARGE mutation leads to intellectual disability, however, is unclear. In our proteomic study, LARGE was found to be a component of the AMPA-type glutamate receptor (AMPA-R) protein complex, a main player for learning and memory in the brain. Here, our functional study of LARGE showed that LARGE at the Golgi apparatus (Golgi) negatively controlled AMPA-R trafficking from the Golgi to the plasma membrane, leading to down-regulated surface and synaptic AMPA-R targeting. In LARGE knockdown mice, long-term potentiation (LTP) was occluded by synaptic AMPA-R overloading, resulting in impaired contextual fear memory. These findings indicate that the fine-tuning of AMPA-R trafficking by LARGE at the Golgi is critical for hippocampus-dependent memory in the brain. Our study thus provides insights into the pathophysiology underlying cognitive deficits in brain disorders associated with intellectual disability.

State health care financing strategies for children with intellectual and developmental disabilities.

PubMed

Bachman, Sara S; Comeau, Margaret; Tobias, Carol; Allen, Deborah; Epstein, Susan; Jantz, Kathryn; Honberg, Lynda

2012-06-01

We provide the first descriptive summary of selected programs developed to help expand the scope of coverage, mitigate family financial hardship, and provide health and support services that children with intellectual and developmental disabilities need to maximize their functional status and quality of life. State financing initiatives were identified through interviews with family advocacy, Title V, and Medicaid organizational representatives. Results showed that states use myriad strategies to pay for care and maximize supports, including benefits counseling, consumer- and family-directed care, flexible funding, mandated benefits, Medicaid buy-in programs, and Tax Equity and Fiscal Responsibility Act of 1982 funding. Although health reform may reduce variation among states, its impact on families of children with intellectual and developmental disabilities is not yet clear. As health reform is implemented, state strategies to ameliorate financial hardship among families of children with intellectual and developmental disabilities show promise for immediate use. However, further analysis and evaluation are required to understand their impact on family and child well-being.

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

PubMed

Alwadei, Ali H; Benini, Ruba; Mahmoud, Adel; Alasmari, Ali; Kamsteeg, Erik-Jan; Alfadhel, Majid

2016-12-01

Inherited aberrancies in intracellular vesicular transport are associated with a variety of neurological and non-neurological diseases. RUSC2 is a gene found on chromosome 9p13.3 that codes for iporin, a ubiquitous protein with high expression in the brain that interacts with Rab proteins (GTPases implicated in intracellular protein trafficking). Although mutations in Rab proteins have been described as causing brain abnormalities and intellectual disability, until now no disease-causing mutations in RUSC2 have ever been reported in humans. We describe, to our knowledge for the first time, three patients with inherited homozygous nonsense mutations identified in RUSC2 on whole-exome sequencing. All three patients had central hypotonia, microcephaly, and moderate to severe intellectual disability. Two patients had additional features of early-onset epilepsy and absence of the splenium. This report adds to the ever-expanding landscape of genetic causes of intellectual disability and increases our understanding of the cellular processes underlying this important neurological entity. © 2016 Mac Keith Press.