Use of the Modified Checklist for Autism, Revised with Follow up-Albanian to Screen for ASD in Albania

PubMed Central

Brennan, Laura; Fein, Deborah; Como, Ariel; Rathwell, Iris Carcani; Chen, Chi-Ming

2016-01-01

The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R/-A) was used to screen 2,594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty three (9.75%) screened positive; follow up on failed items were conducted by phone with 127 (50%); the remainder were lost to follow-up. Twenty-six toddlers (21%) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status – Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of autism appeared very similar. PMID:27491423

Screening for Autism in Young Children with Developmental Delay: An Evaluation of the Developmental Behaviour Checklist--Early Screen

ERIC Educational Resources Information Center

Gray, K. M.; Tonge, B. J.; Sweeney, D. J.; Einfeld, S. L.

2008-01-01

The ability to identify children who require specialist assessment for the possibility of autism at as early an age as possible has become a growing area of research. A number of measures have been developed as potential screening tools for autism. The reliability and validity of one of these measures for screening for autism in young children…

Developmental and Autism Screening: A Survey across Six States

ERIC Educational Resources Information Center

Arunyanart, Wirongrong; Fenick, Ada; Ukritchon, Supak; Imjaijitt, Worarachanee; Northrup, Veronika; Weitzman, Carol

2012-01-01

The American Academy of Pediatrics (AAP) recommends screening children for developmental delay and autism. Studies of current screening practice to date have been limited in scope and primarily focused on small, local samples. This study is designed to determine compliance with AAP screening recommendations: (1) developmental screening at 9, 18,…

Patterns of Early Skill Attainment and Loss in Young Children with Autism

PubMed Central

Thurm, Audrey; Manwaring, Stacy S.; Luckenbaugh, David A.; Lord, Catherine; Swedo, Susan E.

2015-01-01

The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD. PMID:24274034

Patterns of skill attainment and loss in young children with autism.

PubMed

Thurm, Audrey; Manwaring, Stacy S; Luckenbaugh, David A; Lord, Catherine; Swedo, Susan E

2014-02-01

The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD.

Autistic Features in Young Children with Significant Cognitive Impairment: Autism or Mental Retardation?

ERIC Educational Resources Information Center

Vig, Susan; Jedrysek, Eleonora

1999-01-01

Examines issues in the differential diagnosis of autism in preschool children with significant cognitive impairment, including the use of traditional diagnostic guidelines for preschoolers with developmental delays, developmental changes in behavioral characteristics, involvement of cognitive factors in symptom expression, overlap between autism…

One for Autism: A Powerful Formula for Success

ERIC Educational Resources Information Center

Caroff, Maria

2007-01-01

One for Autism is a thriving and ever-growing facility for children with autism and other developmental delays. One for Autism, Inc., umbrellas One for Autism Academy, which offers a classroom setting, as well as One for Autism Center, which provides one-on-one comprehensive therapies, including behavioral therapy, occupational therapy and speech…

Simple Steps for Teaching Prepositions to Students with Autism and Other Developmental Disabilities

ERIC Educational Resources Information Center

Hicks, S. Christy; Rivera, Christopher J.; Patterson, Dawn R.

2016-01-01

The acquisition of receptive and expressive language skills by students with autism and developmental disabilities (DD) is often delayed, thus making the process of communicating with others challenging. Some students develop language skills incidentally through conversations with their families and peers, but others require instruction in…

Validity of false belief tasks in blind children.

PubMed

Brambring, Michael; Asbrock, Doreen

2010-12-01

Previous studies have reported that congenitally blind children without any additional impairment reveal a developmental delay of at least 4 years in perspective taking based on testing first-order false-belief tasks. These authors interpret this delay as a sign of autism-like behavior. However, the delay may be caused by testing blind children with false-belief tasks that require visual experience. Therefore, the present study gave alternative false-belief tasks based on tactile or auditory experience to 45 congenitally blind 4-10-year-olds and 37 sighted 3-6-year-olds. Results showed criterion performance at 80 months (6; 8 years) in blind children compared with 61 months (5; 1 years) in sighted controls. It is concluded that this 19-month (1; 7 year) difference, which is comparable with delays in other developmental areas, is a developmental delay caused by the fact of congenital blindness rather than a sign of a psychopathological disorder of autism-like behavior.

Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study.

PubMed

Charman, Tony; Young, Gregory S; Brian, Jessica; Carter, Alice; Carver, Leslie J; Chawarska, Katarzyna; Curtin, Suzanne; Dobkins, Karen; Elsabbagh, Mayada; Georgiades, Stelios; Hertz-Picciotto, Irva; Hutman, Ted; Iverson, Jana M; Jones, Emily J; Landa, Rebecca; Macari, Suzanne; Messinger, Daniel S; Nelson, Charles A; Ozonoff, Sally; Saulnier, Celine; Stone, Wendy L; Tager-Flusberg, Helen; Webb, Sara Jane; Yirmiya, Nurit; Zwaigenbaum, Lonnie

2017-01-01

We characterized developmental outcomes of a large sample of siblings at familial high-risk of autism spectrum disorder (ASD), who themselves did not have ASD (n = 859), and low-risk controls with no family history of ASD (n = 473). We report outcomes at age 3 years using the Mullen Scales of Early Learning, the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview-Revised (ADI-R) and adaptive functioning on the Vineland Adaptive Behavior Scales. Around 11% of high-risk siblings had mild-to-moderate levels of developmental delay, a rate higher than the low-risk controls. The groups did not differ in the proportion of toddlers with mild-to-moderate language delay. Thirty percent of high-risk siblings had elevated scores on the ADOS, double the rate seen in the low-risk controls. High-risk siblings also had higher parent reported levels of ASD symptoms on the ADI-R and lower adaptive functioning on the Vineland. Males were more likely to show higher levels of ASD symptoms and lower levels of developmental ability and adaptive behavior than females across most measures but not mild-to-moderate language delay. Lower maternal education was associated with lower developmental and adaptive behavior outcomes. These findings are evidence for early emerging characteristics related to the "broader autism phenotype" (BAP) previously described in older family members of individuals with ASD. There is a need for ongoing clinical monitoring of high-risk siblings who do not have an ASD by age 3 years, as well as continued follow-up into school age to determine their developmental and behavioral outcomes. Autism Res 2017, 10: 169-178. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

The Role of Developmental Screening Practices in Early Diagnosis of Autism Spectrum Disorders: An Analysis of All-Payer Claims Data in New Hampshire

ERIC Educational Resources Information Center

Humphreys, Betsy P.

2013-01-01

Universal developmental screening during pediatric well child care detects early delays in development and is a critical gateway to early intervention for young children at risk for Autism Spectrum Disorders (ASD). Developmental screening practices are highly variable, and few studies have examined screening utilization for children at risk for…

Early Indicators of Autism Spectrum Disorders at 12 and 24 Months of Age: A Prospective, Longitudinal Comparative Study

ERIC Educational Resources Information Center

Veness, Carly; Prior, Margot; Bavin, Edith; Eadie, Patricia; Cini, Eileen; Reilly, Sheena

2012-01-01

Prospective questionnaire data from a longitudinal population sample on children with autism spectrum disorders (ASD), developmental delay, specific language impairment, or typical development (TD), were collected at ages eight, 12 and 24 months, via the Communication and Symbolic Behavior Scale Developmental Profile (CSBS)--Infant Toddler…

Play and Developmental Outcomes in Infant Siblings of Children with Autism

PubMed Central

Hutman, Ted; Rozga, Agata; Young, Gregory S.; Ozonoff, Sally; Rogers, Sally J.; Baker, Bruce; Sigman, Marian

2010-01-01

We observed infant siblings of children with autism later diagnosed with ASD (ASD siblings; n = 17), infant siblings of children with autism with and without other delays (Other Delays and No Delays siblings; n = 12 and n = 19, respectively) and typically developing controls (TD controls; n = 19) during a free-play task at 18 months of age. Functional, symbolic, and repeated play actions were coded. ASD siblings showed fewer functional and more non-functional repeated play behaviors than TD controls. Other Delays and No Delays siblings showed more non-functional repeated play than TD controls. Group differences disappeared with the inclusion of verbal mental age. Play as an early indicator of autism and its relationship to the broader autism phenotype is discussed. PMID:20112084

Play and Joint Attention of Children with Autism in the Preschool Special Education Classroom

PubMed Central

Kasari, Connie

2014-01-01

The purpose of this study was to examine play and joint attention in children with autism (n=27) as compared to children with other developmental delays (n=28) in public preschool special education classrooms. The participants were observed in their classroom environment for 2 h over 3 separate days. Results show that children with autism spent more of their time unengaged and less time engaged in symbolic play and joint attention behaviors as compared to children with other developmental delays. Additionally, teachers seldom focused directly on symbolic play and joint attention in their teaching. These findings suggest the importance of educating teachers to target play and joint attention skills in their preschool special education classes, specifically for children with autism. PMID:22350340

Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay, and siblings of children with mental retardation of unknown genetic etiology.

PubMed

Pilowsky, Tammy; Yirmiya, Nurit; Gross-Tsur, Varda; Shalev, Ruth S

2007-03-01

Neuropsychological functioning of 30 siblings of children with autism (AU-S), 28 siblings of children with mental retardation of (MR-S), and 30 siblings of children with developmental language delay (DLD-S) was compared. Two siblings, both AU-S, received diagnoses of pervasive developmental disorder (PDD). More siblings with cognitive disabilities were found in DLD-S than in AU-S. However, these differences disappeared after excluding diagnosed siblings or after accounting for family membership. In sum, despite the elevated incidence of PDD among AU-S, the neuropsychological functioning of the remaining siblings did not convey specific characteristics related to the genetic risk associated with autism, in contrast to the cognitive functioning of the DLD-S, which did reflect a genetic risk.

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

PubMed

Yeung, Kit San; Tso, Winnie Wan Yee; Ip, Janice Jing Kun; Mak, Christopher Chun Yu; Leung, Gordon Ka Chun; Tsang, Mandy Ho Yin; Ying, Dingge; Pei, Steven Lim Cho; Lee, So Lun; Yang, Wanling; Chung, Brian Hon-Yin

2017-01-01

Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients. We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. We identified ten pathogenic/likely pathogenic mutations in PTEN ( n  = 4), PIK3CA ( n  = 3), MTOR ( n  = 1) and PPP2R5D ( n  = 2) in ten patients. An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder.

Developmental Change in the ERP Responses to Familiar Faces in Toddlers with Autism Spectrum Disorders versus Typical Development

ERIC Educational Resources Information Center

Webb, Sara Jane; Jones, Emily J. H.; Merkle, Kristen; Venema, Kaitlin; Greenson, Jessica; Murias, Michael; Dawson, Geraldine

2011-01-01

Individuals with autism spectrum disorder (ASD) show differences in face processing abilities from early in development. To examine whether these differences reflect an atypical versus delayed developmental trajectory, neural responses to familiar and unfamiliar faces in twenty-four 18- to 47-month-old children with ASD were compared with…

Joint Attention Revisited: Finding Strengths among Children with Autism

ERIC Educational Resources Information Center

Hurwitz, Sarah; Watson, Linda R.

2016-01-01

Differences in joint attention are prominent for some children with autism and are often used as an indicator of the disorder. This study examined the joint attention competencies of young children with autism who demonstrated joint attention ability and compared them to children with developmental delays. A total of 40 children with autism and…

Using time-delay to improve social play skills with peers for children with autism.

PubMed

Liber, Daniella B; Frea, William D; Symon, Jennifer B G

2008-02-01

Interventions that teach social communication and play skills are crucial for the development of children with autism. The time delay procedure is effective in teaching language acquisition, social use of language, discrete behaviors, and chained activities to individuals with autism and developmental delays. In this study, three boys with autism, attending a non-public school, were taught play activities that combined a play sequence with requesting peer assistance, using a graduated time delay procedure. A multiple-baseline across subjects design demonstrated the success of this procedure to teach multiple-step social play sequences. Results indicated an additional gain of an increase in pretend play by one of the participants. Two also demonstrated a generalization of the skills learned through the time delay procedure.

Atypical Lexical/Semantic Processing in High-Functioning Autism Spectrum Disorders without Early Language Delay

ERIC Educational Resources Information Center

Kamio, Yoko; Robins, Diana; Kelley, Elizabeth; Swainson, Brook; Fein, Deborah

2007-01-01

Although autism is associated with impaired language functions, the nature of semantic processing in high-functioning pervasive developmental disorders (HFPDD) without a history of early language delay has been debated. In this study, we aimed to examine whether the automatic lexical/semantic aspect of language is impaired or intact in these…

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

PubMed Central

Tanaka, Akemi J.; Cho, Megan T.; Willaert, Rebecca; Retterer, Kyle; Zarate, Yuri A.; Bosanko, Katie; Stefans, Vikki; Oishi, Kimihiko; Williamson, Amy; Wilson, Golder N.; Basinger, Alice; Barbaro-Dieber, Tina; Ortega, Lucia; Sorrentino, Susanna; Gabriel, Melissa K.; Anderson, Ilse J.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Chung, Wendy K.

2017-01-01

Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3. PMID:29162653

Impairments in Monkey and Human Face Recognition in 2-Year-Old Toddlers with Autism Spectrum Disorder and Developmental Delay

ERIC Educational Resources Information Center

Chawarska, Katarzyna; Volkmar, Fred

2007-01-01

Face recognition impairments are well documented in older children with Autism Spectrum Disorders (ASD); however, the developmental course of the deficit is not clear. This study investigates the progressive specialization of face recognition skills in children with and without ASD. Experiment 1 examines human and monkey face recognition in…

Genetics Home Reference: PPP2R5D-related intellectual disability

MedlinePlus

... and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder , which is characterized by impaired communications ... Increased Head Circumference Encyclopedia: Intellectual Disability Health Topic: Autism Spectrum ... Topic: Developmental Disabilities Additional NIH ...

Vocal Atypicalities of Preverbal Autistic Children.

ERIC Educational Resources Information Center

Sheinkopf, Stephen J.; Mundy, Peter; Oller, D. Kimbrough; Steffens, Michele

2000-01-01

A study compared 11 preschool children with developmental delays and 15 with autism to evaluate early vocal behaviors in young children with autism. Results indicated that children with autism did not have difficulty with the expression of well-formed syllables, however they did display significant impairments in vocal quality. (Contains…

Development of T-STAT for Early Autism Screening

ERIC Educational Resources Information Center

Chiang, Chung-Hsin; Wu, Chin-Chin; Hou, Yuh-Ming; Chu, Ching-Lin; Liu, Jiun-Horng; Soong, Wei-Tsuen

2013-01-01

This study's purpose was to modify the Screening Tool for Autism in Two-Year-Olds (STAT) into a Taiwanese version called T-STAT. Study 1 included 15 children with Autism and 15 children with Developmental Delay (DD) or language impairment (LI) aged between 24 and 35 months. Study 2 had 77 young children with Autism, PDD-NOS, or DD/LI as a…

Brief Report: The Relationship between Language Skills, Adaptive Behavior, and Emotional and Behavior Problems in Pre-Schoolers with Autism

ERIC Educational Resources Information Center

Park, Carlie J.; Yelland, Gregory W.; Taffe, John R.; Gray, Kylie M.

2012-01-01

This study investigated the relationship between structural language skills, and communication skills, adaptive behavior, and emotional and behavior problems in pre-school children with autism. Participants were aged 3-5 years with autism (n = 27), and two comparison groups of children with developmental delay without autism (n = 12) and typically…

Simple Mindreading Abilities Predict Complex Theory of Mind: Developmental Delay in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia

2017-01-01

Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on…

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

PubMed

Tanaka, Akemi J; Cho, Megan T; Willaert, Rebecca; Retterer, Kyle; Zarate, Yuri A; Bosanko, Katie; Stefans, Vikki; Oishi, Kimihiko; Williamson, Amy; Wilson, Golder N; Basinger, Alice; Barbaro-Dieber, Tina; Ortega, Lucia; Sorrentino, Susanna; Gabriel, Melissa K; Anderson, Ilse J; Sacoto, Maria J Guillen; Schnur, Rhonda E; Chung, Wendy K

2017-11-01

Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 ( EBF3 ) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons. Haploinsufficiency of EBF3 may affect brain development and function, resulting in developmental delay, intellectual disability, and behavioral differences observed in individuals with a deleterious variant in EBF3 . © 2017 Tanaka et al.; Published by Cold Spring Harbor Laboratory Press.

Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder

PubMed Central

DiGuiseppi, Carolyn G.; Daniels, Julie L.; Fallin, Daniele M.; Rosenberg, Steven A.; Schieve, Laura A.; Thomas, Kathleen C.; Windham, Gayle C.; Goss, Cynthia W.; Soke, Gnakub N.; Currie, Dustin W.; Singer, Alison B.; Lee, Li-Ching; Bernal, Pilar; Croen, Lisa A.; Miller, Lisa A.; Pinto-Martin, Jennifer A.; Young, Lisa M.; Schendel, Diana E.

2016-01-01

Background The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. Objective This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. Methods This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2–5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child's primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. Results Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. Conclusions SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes. PMID:26917104

Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder.

PubMed

DiGuiseppi, Carolyn G; Daniels, Julie L; Fallin, Daniele M; Rosenberg, Steven A; Schieve, Laura A; Thomas, Kathleen C; Windham, Gayle C; Goss, Cynthia W; Soke, Gnakub N; Currie, Dustin W; Singer, Alison B; Lee, Li-Ching; Bernal, Pilar; Croen, Lisa A; Miller, Lisa A; Pinto-Martin, Jennifer A; Young, Lisa M; Schendel, Diana E

2016-07-01

The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2-5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child's primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes. Copyright © 2016 Elsevier Inc. All rights reserved.

Explaining Differences in Age at Autism Spectrum Disorder Diagnosis: A Critical Review

ERIC Educational Resources Information Center

Daniels, Amy M.; Mandell, David S.

2014-01-01

The diagnosis of autism is often delayed, which translates into a missed opportunity to provide treatment during a critical developmental period. This study reviews studies that assessed factors associated with age at autism spectrum disorder diagnosis and provides recommendations on future research, programs, and policies to improve early…

The Behaviors of Parents of Children with Autism Predict the Subsequent Development of Their Children's Communication.

ERIC Educational Resources Information Center

Siller, Michael; Sigman, Marian

2002-01-01

Comparison of caregiver behaviors of children with either autism, developmental delay, or typical development found no difference between groups in caregiver synchronization with the child's focus of attention. Also, caregivers of children with autism who showed higher levels of synchronization during initial play interactions led to superior…

Examining Parent Perceptions Regarding the Use of Augmentative and Alternative Communication Interventions for Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Jones, Felita

2017-01-01

Purpose. This quantitative study examined parent perceptions regarding augmentative and alternative communication (AAC) interventions for their children with autism to determine if, according to parent perceptions, a relationship existed between AAC and functional communication. Those faced with cognitive and developmental delays like autism face…

Speech and Language Delay

MedlinePlus

... the child just doesn’t want to talk). Cerebral palsy (a movement disorder caused by brain damage). Why ... staff Categories: Family Health, Kids and TeensTags: autism, cerebral palsy, child, developmental delay, hearing loss, teenager June 1, ...

The relationship of motor skills and adaptive behavior skills in young children with autism spectrum disorders.

PubMed

MacDonald, Megan; Lord, Catherine; Ulrich, Dale

2013-11-01

To determine the relationship of motor skills and the core behaviors of young children with autism, social affective skills and repetitive behaviors, as indicated through the calibrated autism severity scores. The univariate GLM tested the relationship of gross and fine motor skills measured by the gross motor scale and the fine motor scale of the MSEL with autism symptomology as measured by calibrated autism severity scores. Majority of the data collected took place in an autism clinic. A cohort of 159 young children with ASD (n=110), PDD-NOS (n=26) and non-ASD (developmental delay, n=23) between the ages of 12-33 months were recruited from early intervention studies and clinical referrals. Children with non-ASD (developmental delay) were included in this study to provide a range of scores indicted through calibrated autism severity. Not applicable. The primary outcome measures in this study were calibrated autism severity scores. Fine motor skills and gross motor skills significantly predicted calibrated autism severity (p < 0.01). Children with weaker motor skills displayed higher levels of calibrated autism severity. The fine and gross motor skills are significantly related to autism symptomology. There is more to focus on and new avenues to explore in the realm of discovering how to implement early intervention and rehabilitation for young children with autism and motor skills need to be a part of the discussion.

Differentiating between autism spectrum disorders and other developmental disabilities in children who failed a screening instrument for ASD.

PubMed

Ventola, Pamela; Kleinman, Jamie; Pandey, Juhi; Wilson, Leandra; Esser, Emma; Boorstein, Hilary; Dumont-Mathieu, Thyde; Marshia, Gail; Barton, Marianne; Hodgson, Sarah; Green, James; Volkmar, Fred; Chawarska, Katarzyna; Babitz, Tammy; Robins, Diana; Fein, Deborah

2007-03-01

This study compared behavioral presentation of toddlers with autistic spectrum disorders (ASD) and toddlers with global developmental delay (DD) or developmental language disorder (DLD) who display some characteristics of ASD using the diagnostic algorithm items from the Autism Diagnostic Observation Schedule, Generic (ADOS), the Childhood Autism Rating Scale (CARS), and Modified Checklist for Autism in Toddlers (M-CHAT). To date, 195 children have failed the M-CHAT and have been diagnosed with ASD, DD or DLD. Children with ASD had prominent and consistent impairments in socialization skills, especially joint attention skills and were more impaired in some aspects of communication, play, and sensory processing. Children with ASD and children with DD/DLD shared common features, but certain behavioral markers differentiated the two groups.

Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis.

PubMed

Veroniki, Areti Angeliki; Rios, Patricia; Cogo, Elise; Straus, Sharon E; Finkelstein, Yaron; Kealey, Ryan; Reynen, Emily; Soobiah, Charlene; Thavorn, Kednapa; Hutton, Brian; Hemmelgarn, Brenda R; Yazdi, Fatemeh; D'Souza, Jennifer; MacDonald, Heather; Tricco, Andrea C

2017-07-20

Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. 29 cohort studies including 5100 infants/children. Monotherapy and polytherapy AEDs including first-generation (carbamazepine, clobazam, clonazepam, ethosuximide, phenobarbital, phenytoin, primidone, valproate) and newer-generation (gabapentin, lamotrigine, levetiracetam, oxcarbazepine, topiramate, vigabatrin) AEDs. Epileptic women who did not receive AEDs during pregnancy or breast feeding served as the control group. Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcomes. The NMA on cognitive developmental delay (11 cohort studies, 933 children, 18 treatments) suggested that among all AEDs only valproate was statistically significantly associated with more children experiencing cognitive developmental delay compared with control (OR=7.40, 95% credible interval (CrI) 3.00 to 18.46). The NMA on autism (5 cohort studies, 2551 children, 12 treatments) suggested that oxcarbazepine (OR 13.51, CrI 1.28 to 221.40), valproate (OR 17.29, 95% CrI 2.40 to 217.60), lamotrigine (OR 8.88, CrI 1.28 to 112.00) and lamotrigine+valproate (OR 132.70, CrI 7.41 to 3851.00) were associated with significantly greater odds of developing autism compared with control. The NMA on psychomotor developmental delay (11 cohort studies, 1145 children, 18 treatments) found that valproate (OR 4.16, CrI 2.04 to 8.75) and carbamazepine+phenobarbital+valproate (OR 19.12, CrI 1.49 to 337.50) were associated with significantly greater odds of psychomotor delay compared with control. Valproate alone or combined with another AED is associated with the greatest odds of adverse neurodevelopmental outcomes compared with control. Oxcarbazepine and lamotrigine were associated with increased occurrence of autism. Counselling is advised for women considering pregnancy to tailor the safest regimen. PROSPERO database (CRD42014008925). © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Comparative safety of antiepileptic drugs for neurological development in children exposed during pregnancy and breast feeding: a systematic review and network meta-analysis

PubMed Central

Veroniki, Areti Angeliki; Rios, Patricia; Cogo, Elise; Straus, Sharon E; Finkelstein, Yaron; Kealey, Ryan; Reynen, Emily; Soobiah, Charlene; Thavorn, Kednapa; Hutton, Brian; Hemmelgarn, Brenda R; Yazdi, Fatemeh; D'Souza, Jennifer; MacDonald, Heather; Tricco, Andrea C

2017-01-01

Objectives Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. Design and setting Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. Participants 29 cohort studies including 5100 infants/children. Interventions Monotherapy and polytherapy AEDs including first-generation (carbamazepine, clobazam, clonazepam, ethosuximide, phenobarbital, phenytoin, primidone, valproate) and newer-generation (gabapentin, lamotrigine, levetiracetam, oxcarbazepine, topiramate, vigabatrin) AEDs. Epileptic women who did not receive AEDs during pregnancy or breast feeding served as the control group. Primary and secondary outcome measures Cognitive developmental delay and autism/dyspraxia were primary outcomes. Attention-deficit hyperactivity disorder, language delay, neonatal seizures, psychomotor developmental delay and social impairment were secondary outcomes. Results The NMA on cognitive developmental delay (11 cohort studies, 933 children, 18 treatments) suggested that among all AEDs only valproate was statistically significantly associated with more children experiencing cognitive developmental delay compared with control (OR=7.40, 95% credible interval (CrI) 3.00 to 18.46). The NMA on autism (5 cohort studies, 2551 children, 12 treatments) suggested that oxcarbazepine (OR 13.51, CrI 1.28 to 221.40), valproate (OR 17.29, 95% CrI 2.40 to 217.60), lamotrigine (OR 8.88, CrI 1.28 to 112.00) and lamotrigine+valproate (OR 132.70, CrI 7.41 to 3851.00) were associated with significantly greater odds of developing autism compared with control. The NMA on psychomotor developmental delay (11 cohort studies, 1145 children, 18 treatments) found that valproate (OR 4.16, CrI 2.04 to 8.75) and carbamazepine+phenobarbital+valproate (OR 19.12, CrI 1.49 to 337.50) were associated with significantly greater odds of psychomotor delay compared with control. Conclusions Valproate alone or combined with another AED is associated with the greatest odds of adverse neurodevelopmental outcomes compared with control. Oxcarbazepine and lamotrigine were associated with increased occurrence of autism. Counselling is advised for women considering pregnancy to tailor the safest regimen. Trial registration number PROSPERO database (CRD42014008925). PMID:28729328

Dyadic Orienting and Joint Attention in Preschool Children with Autism

ERIC Educational Resources Information Center

Leekam, Susan R.; Ramsden, Christopher A. H.

2006-01-01

Acts of dyadic orienting (responses to attention bids by a researcher) and acts of joint attention (e.g. pointing and showing behaviors) were observed in preschool children with autism and children with developmental delay. Children with autism responded to fewer adult vocal and non-vocal attention bids that were made singly and by combining…

Changes in Maladaptive Behaviors from Midchildhood to Young Adulthood in Autism Spectrum Disorder

ERIC Educational Resources Information Center

Anderson, Deborah K.; Maye, Melissa P.; Lord, Catherine

2011-01-01

The current study prospectively examined trajectories of change in symptoms of irritability, hyperactivity, and social withdrawal, as well as predictors of such behaviors, for ages 9-18 years for youths with autism spectrum disorder and a comparison group with nonspectrum developmental delays. Children with more severe core features of autism had…

Follow-up of children with language delay and features of autism from preschool years to middle childhood.

PubMed

Michelotti, Janine; Charman, Tony; Slonims, Vicky; Baird, Gillian

2002-12-01

Eighteen children (13 males, five females) who had severe developmental language delay/disorder and some features of autism (although insufficient in severity and combination to meet ICD-10 diagnostic criteria for childhood autism) at preschool age (Time 1; mean age 4 years 4 months) were followed up 4 years later (Time 2; mean age 8 years 7 months). At the initial assessment the diagnostic dilemma was how much the social communication impairments and behavioural problems were secondary to the language problem and how much they constituted a genuine case of a pervasive developmental disorder. It was anticipated that at follow-up some children would continue to show social impairments but that in others social impairments would have receded as language competence improved. Follow-up assessments included the Wechsler Intelligence Scale for Children, the Clinical Evaluation of Language Fundamentals, the Children's Communication Checklist, and the Social Communication Questionnaire. At follow-up, five children had continuing language disorder and were considered to fulfil diagnostic criteria for childhood autism, four children had continuing language disorder and met criteria for atypical autism, and nine met criteria for atypical autism but had somewhat recovered language skills. Thus, even in the subgroup of children whose language ability had improved the features of autism had not dissipated. Severity of social communication impairments and repetitive behaviours at Time 1, rated retrospectively from case notes, were associated with severity of autism symptoms and pragmatic competence at Time 2. The findings are discussed in relation to the unclear boundary between autism spectrum disorders and language delay/disorder.

Latent Class Analysis of Early Developmental Trajectory in Baby Siblings of Children with Autism

PubMed Central

Landa, Rebecca J.; Gross, Alden L.; Stuart, Elizabeth A.; Bauman, Margaret

2012-01-01

Background Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Methods Sibs-A (n=204) were assessed with the Mullen Scales of Early Learning from age 6–36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (n=52); non-ASD social/communication delay (broader autism phenotype; BAP) (n=31); and unaffected (n=121). Child-specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within-class proportions of children assigned to each diagnostic classification. Results A 4-class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above-average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Conclusions Results support a category of ASD that involves slowing in early non-social development. Receptive language and motor development is vulnerable to early delay in sibs-A with and without ASD outcomes. Non-ASD sibs-A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non-ASD sibs-A. PMID:22574686

Brief Report: Methods for Acquiring Structural MRI Data in Very Young Children with Autism Without the Use of Sedation

PubMed Central

Simon, Tony J.; Zierhut, Cynthia; Solomon, Marjorie; Rogers, Sally J.; Amaral, David G.

2016-01-01

We describe a protocol with which we achieved a 93% success rate in acquiring high quality MRI scans without the use of sedation in 2.5–4.5 year old children with autism, developmental delays, and typical development. Our main strategy was to conduct MRIs during natural nocturnal sleep in the evenings after the child's normal bedtime. Alternatively, with some older and higher functioning children, the MRI was conducted while the child was awake and watching a video. Both strategies relied heavily on the creation of a child and family friendly MRI environment and the involvement of parents as collaborators in the project. Scanning very young children with autism, typical development, and developmental delays without the use of sedation or anesthesia was possible in the majority of cases. PMID:18157624

Lack of serum antibodies against Borrelia burgdorferi in children with autism.

PubMed

Burbelo, Peter D; Swedo, Susan E; Thurm, Audrey; Bayat, Ahmad; Levin, Andrew E; Marques, Adriana; Iadarola, Michael J

2013-07-01

It has been proposed that Borrelia burgdorferi infection is present in ∼25% of children with autism spectrum disorders. In this study, antibodies against Borrelia burgdorferi were assessed in autistic (n = 104), developmentally delayed (n = 24), and healthy control (n = 55) children. No seropositivity against Borrelia burgdorferi was detected in the children with and without autism. There was no evidence of an association between Lyme disease and autism.

Engaging Pediatricians in Developmental Screening: The Effectiveness of Academic Detailing

ERIC Educational Resources Information Center

Honigfeld, Lisa; Chandhok, Laura; Spiegelman, Kenneth

2012-01-01

Use of formal developmental screening tools in the pediatric medical home improves early identification of children with developmental delays and disorders, including Autism Spectrum Disorders. A pilot study evaluated the impact of an academic detailing module in which trainers visited 43 pediatric primary care practices to provide education about…

Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development

DTIC Science & Technology

2009-10-01

developmental delay (DD) with diagnosis of autism ; 50 children with DD without autism ; 50 age-matched control children (months 1 - 2 ) We have...identified 30 children with sudden onset regression, 20 children with infantile autism , and 50 control children. Figure 1 and 2 present our data to date...toward lower GSH/GSSG and higher oxidized GSSG levels in children with regressive compared to early onset autism . Figure 1 Figure 2 GSH

A novel X-linked disorder with developmental delay and autistic features.

PubMed

Kaya, Namik; Colak, Dilek; Albakheet, Albandary; Al-Owain, Mohammad; Abu-Dheim, Nada; Al-Younes, Banan; Al-Zahrani, Jawaher; Mukaddes, Nahit M; Dervent, Aysin; Al-Dosari, Naji; Al-Odaib, Ali; Kayaalp, Inci V; Al-Sayed, Moeenaladin; Al-Hassnan, Zuhair; Nester, Michael J; Al-Dosari, Mohammad; Al-Dhalaan, Hesham; Chedrawi, Aziza; Gunoz, Hulya; Karakas, Bedri; Sakati, Nadia; Alkuraya, Fowzan S; Gascon, Generaso G; Ozand, Pinar T

2012-04-01

Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim to understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia nervosa. We evaluated the affected individuals, all maternally related, using childhood autism rating scale (CARS) and Vineland Adaptive scales, magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) brain, electroencephalography (EEG), electromyography (EMG), muscle biopsy, high-resolution molecular karyotype arrays, Giemsa banding (G-banding) and fluorescent in situ hybridization (FISH) experiments, mitochondrial DNA (mtDNA) sequencing, X-chromosome inactivation study, global gene expression analysis on Epstein-Barr virus (EBV)-transformed lymphoblasts, and quantitative reverse-transcription polymerase chain reaction (qRT-PCR). We have identified a novel Xq12-q13.3 duplication in an extended family. Clinically normal mothers were completely skewed in favor of the normal chromosome X. Global transcriptional profiling of affected individuals and controls revealed significant alterations of genes and pathways in a pattern consistent with previous microarray studies of autism spectrum disorder patients. Moreover, expression analysis revealed copy number-dependent increased messenger RNA (mRNA) levels in affected patients compared to control individuals. A subset of differentially expressed genes was validated using qRT-PCR. Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1, and MED12. Copyright © 2011 American Neurological Association.

The relationship of motor skills and adaptive behavior skills in young children with autism spectrum disorders

PubMed Central

MacDonald, Megan; Lord, Catherine; Ulrich, Dale

2015-01-01

Objective To determine the relationship of motor skills and the core behaviors of young children with autism, social affective skills and repetitive behaviors, as indicated through the calibrated autism severity scores. Design The univariate GLM tested the relationship of gross and fine motor skills measured by the gross motor scale and the fine motor scale of the MSEL with autism symptomology as measured by calibrated autism severity scores. Setting Majority of the data collected took place in an autism clinic. Participants A cohort of 159 young children with ASD (n=110), PDD-NOS (n=26) and non-ASD (developmental delay, n=23) between the ages of 12–33 months were recruited from early intervention studies and clinical referrals. Children with non-ASD (developmental delay) were included in this study to provide a range of scores indicted through calibrated autism severity. Interventions Not applicable. Main Outcome Measures The primary outcome measures in this study were calibrated autism severity scores. Results Fine motor skills and gross motor skills significantly predicted calibrated autism severity (p < 0.01). Children with weaker motor skills displayed higher levels of calibrated autism severity. Conclusions The fine and gross motor skills are significantly related to autism symptomology. There is more to focus on and new avenues to explore in the realm of discovering how to implement early intervention and rehabilitation for young children with autism and motor skills need to be a part of the discussion. PMID:25774214

Comparing the Picture Exchange Communication System and the iPad™ for Communication of Students with Autism Spectrum Disorder and Developmental Delay

ERIC Educational Resources Information Center

Hill, Doris Adams; Flores, Margaret M.

2014-01-01

Both picture exchange, a low-tech picturebased communication system, and technologybased interventions, such as the iPad™ with communication application, are emerging treatments for students with autism spectrum disorder (ASD), according to the National Autism Center (2009). Recently, investigations regarding the use of the Apple iPad™ to…

Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies.

PubMed

Lee, Sun Ho; Song, Wung Joo

2017-09-01

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

A Preliminary Analysis of Self-Control with Aversive Events: the Effects of Task Magnitude and Delay on the Choices of Children with Autism

PubMed Central

Lerman, Dorothea C; Addison, Laura R; Kodak, Tiffany

2006-01-01

When faced with a choice between two aversive events, a person exhibits self-control by choosing a smaller, more immediate aversive event over a larger, delayed aversive event. Task demands are often aversive to children with autism and other developmental disabilities. The purpose of this study was to evaluate behavioral sensitivity to differences in the amount and delay of tasks as part of a preliminary study on self-control. Participants were 2 children with autism who engaged in problem behavior maintained by escape. Results indicated a lack of self-control with respect to choosing between two aversive tasks and suggested potential strategies for increasing self-control (i.e., choosing a small immediate task over a large delayed task). PMID:16813043

A preliminary analysis of self-control with aversive events: the effects of task magnitude and delay on the choices of children with autism.

PubMed

Lerman, Dorothea C; Addison, Laura R; Kodak, Tiffany

2006-01-01

When faced with a choice between two aversive events, a person exhibits self-control by choosing a smaller, more immediate aversive event over a larger, delayed aversive event. Task demands are often aversive to children with autism and other developmental disabilities. The purpose of this study was to evaluate behavioral sensitivity to differences in the amount and delay of tasks as part of a preliminary study on self-control. Participants were 2 children with autism who engaged in problem behavior maintained by escape. Results indicated a lack of self-control with respect to choosing between two aversive tasks and suggested potential strategies for increasing self-control (i.e., choosing a small immediate task over a large delayed task).

Children with Autism Show Reduced Information Seeking When Learning New Tasks

ERIC Educational Resources Information Center

Young, Nicole; Hudry, Kristelle; Trembath, David; Vivanti, Giacomo

2016-01-01

Information-seeking behaviours occur when children look to adults in order to gain further information about a novel stimulus/situation. The current study investigated information seeking in children with developmental delays (DD) and those with autism spectrum disorders (ASD) during a simulated teaching situation. Twenty preschool-aged children…

Superior Fluid Intelligence in Children with Asperger's Disorder

ERIC Educational Resources Information Center

Hayashi, Mika; Kato, Motoichiro; Igarashi, Kazue; Kashima, Haruo

2008-01-01

Asperger's disorder is one of autistic spectrum disorders; sharing clinical features with autism, but without developmental delay in language acquisition. There have been some studies of intellectual functioning in autism so far, but very few in Asperger's disorder. In the present study, we investigated abstract reasoning ability, whose form of…

Service System and Cognitive Outcomes for Young Children with Autism Spectrum Disorders in a Rural Area of Taiwan

ERIC Educational Resources Information Center

Chu, Ching-Lin; Chiang, Chung-Hsin; Wu, Chin-Chin; Hou, Yuh-Ming; Liu, Jiun-Horng

2017-01-01

Chiayi is a rural county located in southwestern Taiwan, and the effectiveness of its early intervention service system for autism spectrum disorders was studied in detail. A total of 71 children with autism spectrum disorders (n = 35) and developmental delay (n = 36) aged 2.5 years were referred from the only Early Intervention Reporting and…

Identification of Infants at Risk for Autism Spectrum Disorder and Developmental Language Delay Prior to 12 Months

ERIC Educational Resources Information Center

Samango-Sprouse, Carole A.; Stapleton, Emily J.; Aliabadi, Farhad; Graw, Robert; Vickers, Rebecca; Haskell, Kathryn; Sadeghin, Teresa; Jameson, Robert; Parmele, Charles L.; Gropman, Andrea L.

2015-01-01

Studies have shown an increased head circumference and the absence of the head tilt reflex as possible risk factors for autism spectrum disorder, allowing for early detection at 12 months in typically developing population of infants. Our aim was to develop a screening tool to identify infants prior to 12 months at risk for autism spectrum…

Increasing the vocal responses of children with autism and developmental disabilities using manual sign mand training and prompt delay.

PubMed

Carbone, Vincent J; Sweeney-Kerwin, Emily J; Attanasio, Vivian; Kasper, Tamara

2010-01-01

The purpose of this study was to determine the effect of manual sign mand training combined with prompt delay and vocal prompting on the production of vocal responses in nonvocal children with developmental disabilities. A multiple baseline design across participants verified the effectiveness of this intervention. All participants showed increases in vocal responses following the implementation of the independent variables.

A Behavioral Comparison of Male and Female Adults with High Functioning Autism Spectrum Conditions

PubMed Central

Lai, Meng-Chuan; Lombardo, Michael V.; Pasco, Greg; Ruigrok, Amber N. V.; Wheelwright, Sally J.; Sadek, Susan A.; Chakrabarti, Bhismadev; Baron-Cohen, Simon

2011-01-01

Autism spectrum conditions (ASC) affect more males than females in the general population. However, within ASC it is unclear if there are phenotypic sex differences. Testing for similarities and differences between the sexes is important not only for clinical assessment but also has implications for theories of typical sex differences and of autism. Using cognitive and behavioral measures, we investigated similarities and differences between the sexes in age- and IQ-matched adults with ASC (high-functioning autism or Asperger syndrome). Of the 83 (45 males and 38 females) participants, 62 (33 males and 29 females) met Autism Diagnostic Interview-Revised (ADI-R) cut-off criteria for autism in childhood and were included in all subsequent analyses. The severity of childhood core autism symptoms did not differ between the sexes. Males and females also did not differ in self-reported empathy, systemizing, anxiety, depression, and obsessive-compulsive traits/symptoms or mentalizing performance. However, adult females with ASC showed more lifetime sensory symptoms (p = 0.036), fewer current socio-communication difficulties (p = 0.001), and more self-reported autistic traits (p = 0.012) than males. In addition, females with ASC who also had developmental language delay had lower current performance IQ than those without developmental language delay (p<0.001), a pattern not seen in males. The absence of typical sex differences in empathizing-systemizing profiles within the autism spectrum confirms a prediction from the extreme male brain theory. Behavioral sex differences within ASC may also reflect different developmental mechanisms between males and females with ASC. We discuss the importance of the superficially better socio-communication ability in adult females with ASC in terms of why females with ASC may more often go under-recognized, and receive their diagnosis later, than males. PMID:21695147

Validity of False Belief Tasks in Blind Children

ERIC Educational Resources Information Center

Brambring, Michael; Asbrock, Doreen

2010-01-01

Previous studies have reported that congenitally blind children without any additional impairment reveal a developmental delay of at least 4 years in perspective taking based on testing first-order false-belief tasks. These authors interpret this delay as a sign of autism-like behavior. However, the delay may be caused by testing blind children…

Comparison of Progressive Prompt Delay with and without Instructive Feedback

ERIC Educational Resources Information Center

Reichow, Brian; Wolery, Mark

2011-01-01

We examined the effectiveness and efficiency of 2 instructional arrangements using progressive prompt delay (PPD) with 3 young children with autism and 1 child with developmental delays. Specifically, we compared PPD with instructive feedback (IF) to PPD without IF in an adapted alternating treatment design. The results suggested that (a) children…

Developmental plateau in visual object processing from adolescence to adulthood in autism

PubMed Central

O'Hearn, Kirsten; Tanaka, James; Lynn, Andrew; Fedor, Jennifer; Minshew, Nancy; Luna, Beatriz

2016-01-01

A lack of typical age-related improvement from adolescence to adulthood contributes to face recognition deficits in adults with autism on the Cambridge Face Memory Test (CFMT). The current studies examine if this atypical developmental trajectory generalizes to other tasks and objects, including parts of the face. The CFMT tests recognition of whole faces, often with a substantial delay. The current studies used the immediate memory (IM) task and the parts-whole face task from the Let's Face It! battery, which examines whole faces, face parts, and cars, without a delay between memorization and test trials. In the IM task, participants memorize a face or car. Immediately after the target disappears, participants identify the target from two similar distractors. In the part-whole task, participants memorize a whole face. Immediately after the face disappears, participants identify the target from a distractor with different eyes or mouth, either as a face part or a whole face. Results indicate that recognition deficits in autism become more robust by adulthood, consistent with previous work, and also become more general, including cars. In the IM task, deficits in autism were specific to faces in childhood, but included cars by adulthood. In the part-whole task, deficits in autism became more robust by adulthood, including both eyes and mouths as parts and in whole faces. Across tasks, the deficit in autism increased between adolescence and adulthood, reflecting a lack of typical improvement, leading to deficits with non-face stimuli and on a task without a memory delay. These results suggest that brain maturation continues to be affected into adulthood in autism, and that the transition from adolescence to adulthood is a vulnerable stage for those with autism. PMID:25019999

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

PubMed Central

Cohen-Ophir, Michal; Castel-Deutsh, Tsophia; Tirosh, Emanuel

2012-01-01

Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry. PMID:22937419

Nonverbal Communication in Two- and Three-Year-Old Children with Autism.

ERIC Educational Resources Information Center

Stone, Wendy L.; Ousley, Opal Y.; Yoder, Paul J.; Hogan, Kerry L.; Hepburn, Susan L.

1997-01-01

The forms, functions, and complexity of nonverbal communication used by 14 young (ages 2-3) children with autism were investigated. Comparison with children with developmental delays and/or language impairments on a structured assessment found that autistic children directly manipulated the examiner's hand and requested more often but were less…

Teaching Students with Autism Spectrum Disorders: Technology, Curriculum, and Common Sense

ERIC Educational Resources Information Center

Ennis-Cole, Demetria

2012-01-01

Autism is a spectrum of disorders which comprises Asperger's Syndrome, Pervasive Developmental Delay-Not Otherwise Specified (PDD-NOS), Rett's Syndrome, Childhood Disintegrative Disorder, and Autistic Disorder. It affects 1 in 110 children (Center for Disease Control and Prevention, [CDC], 2011), and it is a complex neurological disorder that is…

The Picture Exchange Communication System (PECS): A Promising Method for Improving Communication Skills of Learners with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Ganz, Jennifer B.; Simpson, Richard L.; Lund, Emily M.

2012-01-01

Children and youth with autism spectrum disorders (ASD) and other developmental delays frequently experience deficits in functional communication. Identifying and using suitable communication enhancement and augmentative and alternative communication supports is essential to achievement of positive outcomes for these learners. This article…

Corpus Callosum Morphometrics in Young Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Boger-Megiddo, Inbal; Shaw, Dennis W. W.; Friedman, Seth D.; Sparks, Bobbi F.; Artru, Alan A.; Giedd, Jay N.; Dawson, Geraldine; Dager, Stephen R.

2006-01-01

This study assessed digital corpus callosum cross sectional areas in 3-4 year olds with autism spectrum disorder (ASD) compared to typically developing (TD) and developmentally delayed (DD) children. Though not different in absolute size compared to TD, ASD callosums were disproportionately small adjusted for increased ASD cerebral volume. ASD…

Incremental Validity in the Clinical Assessment of Early Childhood Development

ERIC Educational Resources Information Center

Liu, Xin; Zhou, Xiaobin; Lackaff, Julie

2013-01-01

The authors demonstrate the increment of clinical validity in early childhood assessment of physical impairment (PI), developmental delay (DD), and autism (AUT) using multiple standardized developmental screening measures such as performance measures and parent and teacher rating scales. Hierarchical regression and sensitivity/specificity analyses…

Latent class analysis of early developmental trajectory in baby siblings of children with autism.

PubMed

Landa, Rebecca J; Gross, Alden L; Stuart, Elizabeth A; Bauman, Margaret

2012-09-01

Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Sibs-A (N = 204) were assessed with the Mullen Scales of Early Learning from age 6 to 36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (N = 52); non-ASD social/communication delay (broader autism phenotype; BAP; N = 31); and unaffected (N = 121). Child-specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within-class proportions of children assigned to each diagnostic classification. A 4-class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above-average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Results support a category of ASD that involves slowing in early non-social development. Receptive language and motor development is vulnerable to early delay in sibs-A with and without ASD outcomes. Non-ASD sibs-A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non-ASD sibs-A. © 2012 The Authors. Journal of Child Psychology and Psychiatry © 2012 Association for Child and Adolescent Mental Health.

Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay

PubMed Central

Webb, Bryn D.; Scharf, Rebecca J.; Spear, Emily A.; Edelmann, Lisa J.; Stroustrup, Annemarie

2015-01-01

The goal of molecular cytogenetic testing for children presenting with developmental delay is to identify or exclude genetic abnormalities that are associated with cognitive, behavioral, and/or motor symptoms. Until 2010, chromosome analysis was the standard first-line genetic screening test for evaluation of patients with developmental delay when a specific syndrome was not suspected. In 2010, The American College of Medical Genetics and several other groups recommended chromosomal microarray (CMA) as the first-line test in children with developmental delays, multiple congenital anomalies, and/or autism. This test is able to detect regions of genomic imbalances at a much finer resolution than G-banded karyotyping. Until recently, no CMA testing had been approved by the United States Food and Drug Administration (FDA). This review will focus on the use of the Affymetrix CytoScan® Dx Assay, the first CMA to receive FDA approval for the genetic evaluation of individuals with developmental delay. PMID:25350348

Repetitive and stereotyped movements in children with autism spectrum disorders late in the second year of life.

PubMed

Morgan, Lindee; Wetherby, Amy M; Barber, Angie

2008-08-01

The purpose of this study was to examine group differences and relationships with later developmental level and autism symptoms using a new clinical tool developed to measure repetitive and stereotyped movements (RSM) in young children. Videotaped behavior samples using the Communication and Symbolic Behavior Scales Developmental Profile (CSBS; Wetherby & Prizant, 2002) were coded for children with autism spectrum disorders (ASD; n = 50), developmental delays without ASD (DD; n = 25), and typical development (TD; n = 50) between 18 and 24 months of age. Children with ASD demonstrated significantly higher rate and larger inventory of RSM with objects and body during a systematic behavior sample than both the DD and TD groups. Measures of RSM were related to concurrent measures of social communication and predicted developmental outcomes and autism symptoms in the fourth year for the ASD group. None of the correlations between RSM and autism symptoms remained significant when controlling for CSBS Symbolic level. RSM with objects predicted unique variance in the severity of autism symptoms in the fourth year beyond that predicted by social communication measures alone. This study provides support for the diagnostic significance of RSM in children under 24 months of age and documents the utility of this RSM measurement tool as a companion to the CSBS.

Autism Spectrum Disorder Symptoms among Children Enrolled in the Study to Explore Early Development (SEED)

ERIC Educational Resources Information Center

Wiggins, Lisa D.; Levy, Susan E.; Daniels, Julie; Schieve, Laura; Croen, Lisa A.; DiGuiseppi, Carolyn; Blaskey, Lisa; Giarelli, Ellen; Lee, Li-Ching; Pinto-Martin, Jennifer; Reynolds, Ann; Rice, Catherine; Rosenberg, Cordelia Robinson; Thompson, Patrick; Yeargin-Allsopp, Marshalyn; Young, Lisa; Schendel, Diana

2015-01-01

This study examined the phenotypic profiles of children aged 30-68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive,…

Simple Mindreading Abilities Predict Complex Theory of Mind: Developmental Delay in Autism Spectrum Disorders.

PubMed

Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia

2017-09-01

Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on the more advanced ToM task, i.e. comic strip test. Based on a sample of 37 children with ASD and 55 TD children, our results revealed slower development at varying rates in all ToM measures in children with ASD, with delayed onset compared to TD children. These results could stimulate new treatments for social abilities, which would lessen the social deficit in ASD.

An Evaluation of Constant Time Delay and Simultaneous Prompting Procedures in Skill Acquisition for Young Children with Autism

ERIC Educational Resources Information Center

Brandt, Julie A. Ackerlund; Weinkauf, Sara; Zeug, Nicole; Klatt, Kevin P.

2016-01-01

Previous research has shown that various prompting procedures are effective in teaching skills to children and adults with developmental disabilities. Simultaneous prompting includes proving a prompt immediately following an instruction; whereas constant time-delay procedures include a set time delay (i.e., 5 s or 10 s) prior to delivering a…

EMOTIONAL AVAILABILITY IN EARLY MOTHER–CHILD INTERACTIONS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, OTHER PSYCHIATRIC DISORDERS, AND DEVELOPMENTAL DELAY

PubMed Central

GUL, HESNA; EROL, NESE; AKIN, DUYGU PAMIR; GULLU, BELGİN USTUN; AKCAKİN, MELDA; ALPAS, BAŞAK; ÖNER, ÖZGÜR

2016-01-01

Emotional availability (EA) is a method to assess early parent–child dyadic interactions for emotional awareness, perception, experience, and expression between child and parent that describe global relational quality (Z. Biringen & M. Easterbrooks, 2012). The current study aimed to examine the effects of an infant’s diagnosis of autism spectrum disorders (ASDs), other psychiatric disorders (OPD), and developmental delay (DD) on the maternal EA Scale (EAS; Z. Biringen & M. Easterbrooks, 2012; Z. Biringen, J.L. Robinson, & R.N. Emde, 2000) scores and the relative contributions of infant’s age, gender, diagnosis, developmental level, and maternal education on EAS scores in a clinical Turkish sample. Three hundred forty-five infant–mother dyads participated in this study. Results of the research indicated that EAS adult scores were associated with maternal education and infant’s diagnosis whereas child scores were associated with infant’s age, diagnosis, and developmental level. Infants’ involvement and responsiveness to the mother were lower in the group with ASD. Children with OPD, particularly when their mothers have lower education, might be at increased risk of having problems in parent–child interactions. Young ASD subjects with developmental delay are in greatest need of support to increase reactions toward their mother. These findings underscore the importance of using all of the EA dimensions rather than only one measure on children in high-risk populations. PMID:26891759

Parents' first concerns about toddlers with autism spectrum disorder: effect of sibling status.

PubMed

Herlihy, Lauren; Knoch, Kelley; Vibert, Bethany; Fein, Deborah

2015-01-01

Symptoms of autism spectrum disorders may appear as early as 6 months, but parent concern, which can precipitate evaluation, often lags significantly. The presence of typical or atypical older siblings can change parents' sensitivity to departures from typical development. This study investigated type and age of parent's first concerns in toddlers with autism spectrum disorder, prior to diagnosis. Participants had (1) at least one older sibling with autism spectrum disorder (Sibs-ASD); (2) only typically developing older siblings (Sibs-TD), or (3) were only/oldest (No-Sibs). Specific autism spectrum disorder diagnoses and symptom severity were similar among groups. Developmentally, No-Sibs showed the largest delays, followed by Sibs-TD, followed by Sibs-ASD. Mean age of first concern was 16 months for No-Sibs, 14 months for Sibs-TD, and 10 months for Sibs-ASD. Age of first concern differed significantly by group, even after controlling for mother's age and education. Concern about language was prevalent in all groups. Thus, the presence of an older child with typical or, especially, atypical development was associated with earlier concerns for the affected child, despite milder developmental delays. These findings underscore the importance of encouraging parents to report concerns to pediatricians, routine standardized screening for autism spectrum disorder, and the need for pediatrician vigilance, especially for only or oldest children. © The Author(s) 2013.

Neuroanatomy of Individual Differences in Language in Adult Males with Autism

PubMed Central

Lai, Meng-Chuan; Lombardo, Michael V.; Ecker, Christine; Chakrabarti, Bhismadev; Suckling, John; Bullmore, Edward T.; Happé, Francesca; Murphy, Declan G. M.; Baron-Cohen, Simon

2015-01-01

One potential source of heterogeneity within autism spectrum conditions (ASC) is language development and ability. In 80 high-functioning male adults with ASC, we tested if variations in developmental and current structural language are associated with current neuroanatomy. Groups with and without language delay differed behaviorally in early social reciprocity, current language, but not current autistic features. Language delay was associated with larger total gray matter (GM) volume, smaller relative volume at bilateral insula, ventral basal ganglia, and right superior, middle, and polar temporal structures, and larger relative volume at pons and medulla oblongata in adulthood. Despite this heterogeneity, those with and without language delay showed significant commonality in morphometric features when contrasted with matched neurotypical individuals (n = 57). In ASC, better current language was associated with increased GM volume in bilateral temporal pole, superior temporal regions, dorsolateral fronto-parietal and cerebellar structures, and increased white matter volume in distributed frontal and insular regions. Furthermore, current language–neuroanatomy correlation patterns were similar across subgroups with or without language delay. High-functioning adult males with ASC show neuroanatomical variations associated with both developmental and current language characteristics. This underscores the importance of including both developmental and current language as specifiers for ASC, to help clarify heterogeneity. PMID:25249409

Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood.

PubMed

Christiansz, Jessica A; Gray, Kylie M; Taffe, John; Tonge, Bruce J

2016-06-01

Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5 years of age. This study evaluated 185 children aged 20-55 months with DSM-IV PDD or developmental delay. Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) data was assigned to DSM-5 subdomains. Children displaying the required symptomatology were classified with DSM-5 ASD. DSM-IV clinical diagnoses were compared to DSM-5 classifications. Using combined ADI-R/ADOS information, sensitivity was .84 and specificity was .54. Comorbid behaviour and emotional problems were significantly lower in children with PDD that did not meet DSM-5 criteria.

Adaptive Behavior in Toddlers under Two with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Paul, Rhea; Loomis, Rebecca; Chawarska, Katarzyna

2014-01-01

The Vineland Adaptive Behavior Scale was administered to 54 children diagnosed with autism spectrum disorder (ASD) before age 2, and a matching group of 18 toddlers with developmental delay (DD). The group with ASD was more impaired on all scales of the Vineland than DD peers. When 18 ASD/DD pairs very closely matched on age, verbal and nonverbal…

Can One Hour Per Week of Therapy Lead to Lasting Changes in Young Children with Autism?

ERIC Educational Resources Information Center

Vismara, Laurie A.; Colombi, Costanza; Rogers, Sally J.

2009-01-01

Deficits in attention, communication, imitation, and play skills reduce opportunities for children with autism to learn from natural interactive experiences that occur throughout the day. These developmental delays are already present by the time these children reach the toddler period. The current study provided a brief 12 week, 1 hour per week,…

Communicative Acts of Children with Autism Spectrum Disorders in the Second Year of Life

ERIC Educational Resources Information Center

Shumway, Stacy; Wetherby, Amy M.

2009-01-01

Purpose: To examine the communicative profiles of children with autism spectrum disorders (ASD) in the second year of life. Method: Communicative acts were examined in 125 children 18 to 24 months of age: 50 later diagnosed with ASD; 25 with developmental delays (DD); and 50 with typical development (TD). Precise measures of rate, functions, and…

Proton Magnetic Resonance Spectroscopy and MRI Reveal No Evidence for Brain Mitochondrial Dysfunction in Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Corrigan, Neva M.; Shaw, Dennis. W. W.; Richards, Todd L.; Estes, Annette M.; Friedman, Seth D.; Petropoulos, Helen; Artru, Alan A.; Dager, Stephen R.

2012-01-01

Brain mitochondrial dysfunction has been proposed as an etiologic factor in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopic imaging ([superscript 1]HMRS) and MRI were used to assess for evidence of brain mitochondrial dysfunction in longitudinal samples of children with ASD or developmental delay (DD), and cross-sectionally…

Repetitive and Stereotyped Movements in Children with Autism Spectrum Disorders Late in the Second Year of Life

PubMed Central

Morgan, Lindee; Wetherby, Amy M.; Barber, Angie

2008-01-01

Objectives The purpose of this study was to examine group differences and relationships with later developmental level and autism symptoms using a new clinical tool developed to measure repetitive and stereotyped movements (RSM) in young children. Method Videotaped behavior samples using the Communication and Symbolic Behavior Scales Developmental Profile (CSBS; Wetherby & Prizant, 2002) were coded for children with autism spectrum disorders (ASD; n=50), developmental delays without ASD (DD; n=25), and typical development (TD; n=50) between 18 and 24 months of age. Results Children with ASD demonstrated significantly higher rate and larger inventory of RSM with objects and body during a systematic behavior sample than both the DD and TD groups. Measures of RSM were related to concurrent measures of social communication and predicted developmental outcomes and autism symptoms in the fourth year for the ASD group. None of the correlations between RSM and autism symptoms remained significant when controlling for CSBS Symbolic level. RSM with objects predicted unique variance in the severity of autism symptoms in the fourth year beyond that predicted by social communication measures alone. Conclusions This study provides support for the diagnostic significance of RSM in children under 24 months of age and documents the utility of this RSM measurement tool as a companion to the CSBS. PMID:18503532

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

PubMed

Powis, Z; Petrik, I; Cohen, J S; Escolar, D; Burton, J; van Ravenswaaij-Arts, C M A; Sival, D A; Stegmann, A P A; Kleefstra, T; Pfundt, R; Chikarmane, R; Begtrup, A; Huether, R; Tang, S; Shinde, D N

2018-05-01

Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorder is expanding. Among these genes is KLF7 (Krüppel-like factor 7), which is located at 2q33.3 and has been implicated in several developmental processes. KLF7 has been proposed to be a candidate gene for the phenotype of autism features seen in patients with a 2q33.3q34 deletion. Herein, we report 4 unrelated individuals with de novo KLF7 missense variants who share similar clinical features of developmental delay/ID, hypotonia, feeding/swallowing issues, psychiatric features and neuromuscular symptoms, and add to the knowledge about the phenotypic spectrum associated with KLF7 haploinsufficiency. © 2017 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Developmental heterochrony and the evolution of autistic perception, cognition and behavior

PubMed Central

2013-01-01

Background Autism is usually conceptualized as a disorder or disease that involves fundamentally abnormal neurodevelopment. In the present work, the hypothesis that a suite of core autism-related traits may commonly represent simple delays or non-completion of typical childhood developmental trajectories is evaluated. Discussion A comprehensive review of the literature indicates that, with regard to the four phenotypes of (1) restricted interests and repetitive behavior, (2) short-range and long-range structural and functional brain connectivity, (3) global and local visual perception and processing, and (4) the presence of absolute pitch, the differences between autistic individuals and typically developing individuals closely parallel the differences between younger and older children. Summary The results of this study are concordant with a model of ‘developmental heterochrony’, and suggest that evolutionary extension of child development along the human lineage has potentiated and structured genetic risk for autism and the expression of autistic perception, cognition and behavior. PMID:23639054

Developmental heterochrony and the evolution of autistic perception, cognition and behavior.

PubMed

Crespi, Bernard

2013-05-02

Autism is usually conceptualized as a disorder or disease that involves fundamentally abnormal neurodevelopment. In the present work, the hypothesis that a suite of core autism-related traits may commonly represent simple delays or non-completion of typical childhood developmental trajectories is evaluated. A comprehensive review of the literature indicates that, with regard to the four phenotypes of (1) restricted interests and repetitive behavior, (2) short-range and long-range structural and functional brain connectivity, (3) global and local visual perception and processing, and (4) the presence of absolute pitch, the differences between autistic individuals and typically developing individuals closely parallel the differences between younger and older children. The results of this study are concordant with a model of 'developmental heterochrony', and suggest that evolutionary extension of child development along the human lineage has potentiated and structured genetic risk for autism and the expression of autistic perception, cognition and behavior.

Longitudinal prediction of language emergence in infants at high and low risk for autism spectrum disorder.

PubMed

Edmunds, Sarah R; Ibañez, Lisa V; Warren, Zachary; Messinger, Daniel S; Stone, Wendy L

2017-02-01

This study used a prospective longitudinal design to examine the early developmental pathways that underlie language growth in infants at high risk (n = 50) and low risk (n = 34) for autism spectrum disorder in the first 18 months of life. While motor imitation and responding to joint attention (RJA) have both been found to predict expressive language in children with autism spectrum disorder and those with typical development, the longitudinal relation between these capacities has not yet been identified. As hypothesized, results revealed that 15-month RJA mediated the association between 12-month motor imitation and 18-month expressive vocabulary, even after controlling for earlier levels of RJA and vocabulary. These results provide new information about the developmental sequencing of skills relevant to language growth that may inform future intervention efforts for children at risk for language delay or other developmental challenges.

Access to services, quality of care, and family impact for children with autism, other developmental disabilities, and other mental health conditions.

PubMed

Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire

2014-10-01

This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with Special Health Care Needs was utilized to examine the association between child's special needs condition and three outcomes (N = 18,136): access to services (difficulty using services, difficulty getting referrals, lack of source of care, and inadequate insurance coverage), quality of care (lack of care coordination, lack of shared decision making, and no routine screening), and family impact (financial, employment, and time-related burden). Multivariate logistic regressions were performed to compare caregivers of children with autism spectrum disorders to caregivers of children with developmental disabilities (cerebral palsy, Down syndrome, developmental delay, or intellectual disability), mental health conditions (attention deficit hyperactivity disorder, anxiety, behavioral/conduct problems, or depression), or both developmental disabilities and mental health conditions. Caregivers of children with autism spectrum disorders were significantly more likely to report difficulty using services, lack of source of care, inadequate insurance coverage, lack of shared decision making and care coordination, and adverse family impact as compared to caregivers of children with developmental disabilities, mental health conditions, or both. © The Author(s) 2013.

Changes in Maladaptive Behaviors from Mid-Childhood to Young Adulthood in Autism Spectrum Disorder

PubMed Central

Anderson, Deborah K.; Maye, Melissa P.; Lord, Catherine

2011-01-01

The current study prospectively examined trajectories of change in symptoms of irritability, hyperactivity, and social withdrawal, as well as predictors of such behaviors from age 9 to 18 for youths with autism spectrum disorder (ASD) and a comparison group with nonspectrum developmental delays. Children with more severe core features of autism had consistently higher irritability and hyperactivity scores over time than those with broader ASD and nonspectrum delays. Across all diagnoses, behaviors related to hyperactivity showed the greatest improvement. Social withdrawal worsened with age for a substantial proportion of youths with ASD but not for the nonspectrum comparison group. Compared with nonspectrum youths, children with ASD showed greater heterogeneity in trajectories for maladaptive behaviors. PMID:21905806

Methods for Acquiring Structural MRI Data in Very Young Children with Autism without the Use of Sedation

ERIC Educational Resources Information Center

Nordahl, Christine Wu; Simon, Tony J.; Zierhut, Cynthia; Solomon, Marjorie; Rogers, Sally J.; Amaral, David G.

2008-01-01

We describe a protocol with which we achieved a 93% success rate in acquiring high quality MRI scans without the use of sedation in 2.5-4.5 year old children with autism, developmental delays, and typical development. Our main strategy was to conduct MRIs during natural nocturnal sleep in the evenings after the child's normal bedtime.…

Can one hour per week of therapy lead to lasting changes in young children with autism?

PubMed

Vismara, Laurie A; Colombi, Costanza; Rogers, Sally J

2009-01-01

Deficits in attention, communication, imitation, and play skills reduce opportunities for children with autism to learn from natural interactive experiences that occur throughout the day. These developmental delays are already present by the time these children reach the toddler period. The current study provided a brief 12 week, 1 hour per week, individualized parent-child education program to eight toddlers newly diagnosed with autism. Parents learned to implement naturalistic therapeutic techniques from the Early Start Denver Model, which fuses developmental- and relationship-based approaches with Applied Behavior Analysis into their ongoing family routines and parent-child play activities. Results demonstrated that parents acquired the strategies by the fifth to sixth hour and children demonstrated sustained change and growth in social communication behaviors. Findings are discussed in relation to providing parents with the necessary tools to engage, communicate with, and teach their young children with autism beginning immediately after the diagnosis.

Characteristics of autism spectrum disorders in a sample of egyptian and saudi patients: transcultural cross sectional study

PubMed Central

2011-01-01

Background Autism is a biological disorder with clearly defined phenomenology. Studies from the Middle East on this topic have been particularly rare. Little is known about the influence of culture on clinical features, presentations and management of autism. The current study was done to compare characteristics of autism in two groups of Egyptian as well as Saudi children. Methods The sample included 48 children with Autism Spectrum Disorder. They were recruited from the Okasha Institute of Psychiatry, Ain Shams University, Cairo, Egypt and Al-Amal Complex for Mental Health, Dammam, Kingdom of Saudi Arabia. They were grouped into an Egyptian group (n = 20) and a Saudi group (n = 28). They were assessed both clinically and psychometrically using the GARS, the Vineland adaptive behavioral scale, and the Stanford Binnet IQ test. Results Typical autism was more prevalent than atypical autism in both groups. There were no statistically significant differences in clinical variables like regression, hyperactivity, epilepsy or mental retardation. Delayed language development was significantly higher in the Egyptian group while delay in all developmental milestones was more significant in the Saudi group. The Vineland communication subscale showed more significant severe and profound communication defects in the Saudi group while the Gilliam developmental subscale showed significantly more average scores in the Egyptian group. Both groups differed significantly such that the age of noticing abnormality was younger in the Saudi group. The age at diagnosis and at the commencement of intervention was lower in the Egyptian group. The Saudi group showed a higher percentage of missing examinations, older birth order and significantly higher preference to drug treatment, while the Egyptian group showed a high preference to behavioral and phoniatric therapies, higher paternal and maternal education, higher employment among parents and higher family concern. Conclusion Cultural context may significantly influence the age of noticing abnormality, the age of starting intervention, developmental and perinatal problems, family concerns about managing the problem as well as familial tendency for neurodevelopmental disorders, all of which have important impact on clinical symptomatology and severity of autism. Culture also influences significantly the ways of investigating and treating autism. PMID:22051160

Developmental delays in emotion regulation strategies in preschoolers with autism.

PubMed

Nuske, Heather J; Hedley, Darren; Woollacott, Alexandra; Thomson, Phoebe; Macari, Suzanne; Dissanayake, Cheryl

2017-11-01

Children with autism spectrum disorder (ASD) commonly present with difficulty regulating negative emotions, which has been found to impact their behavioral and mental health. Little research has documented the strategies that children with ASD use to regulate their emotion to understand whether they use qualitatively different strategies to children without ASD, whether these are developmentally delayed, or both. Forty-four children with ASD and 29 typically-developing children (2-4 years) were given tasks designed to mimic everyday life experiences requiring children to manage low-level stress (e.g., waiting for a snack) and children's emotion regulation strategies were coded. Parents reported on their child's mental health, wellbeing, and self-development. The results suggest differences in using emotion regulation strategies in children with ASD, reflecting a delay, rather than a deviance when compared to those used by children without ASD. Only children with ASD relied on their family members for physical and communicative soothing; the typically developing children relied on people outside of their family for help regulating their emotion. More frequent approach/less frequent avoidance was related to a higher self-evaluation in both groups, but was only additionally related to higher self-recognition and autonomy in the ASD group. These findings help to identify important emotion regulation intervention targets for this population, including supporting communication with people outside of the family and independence. Autism Res 2017, 10: 1808-1822. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Results suggest that children with autism had more difficulty using communication strategies to manage stress only with people outside the family; they used these strategies with family members as often as children without autism. For all children, more task approach/less avoidance was related to children's higher self-evaluation. These findings suggest targeting communication with people outside of the family and personality development as appropriate intervention goals. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Parental report of the early development of children with regressive autism: the delays-plus-regression phenotype.

PubMed

Ozonoff, Sally; Williams, Brenda J; Landa, Rebecca

2005-12-01

Most children with autism demonstrate developmental abnormalities in their first year, whereas others display regression after mostly normal development. Few studies have examined the early development of the latter group. This study developed a retrospective measure, the Early Development Questionnaire (EDQ), to collect specific, parent-reported information about development in the first 18 months. Based on their EDQ scores, 60 children with autism between the ages of 3 and 9 were divided into three groups: an early onset group (n = 29), a definite regression group (n = 23), and a heterogeneous mixed group (n = 8). Significant differences in early social development were found between the early onset and regression groups. However, over 50 percent of the children who experienced a regression demonstrated some early social deficits during the first year of life, long before regression and the apparent onset of autism. This group, tentatively labeled 'delays-plus-regression', deserves further study.

Sensory features and repetitive behaviors in children with autism and developmental delays.

PubMed

Boyd, Brian A; Baranek, Grace T; Sideris, John; Poe, Michele D; Watson, Linda R; Patten, Elena; Miller, Heather

2010-04-01

This study combined parent and observational measures to examine the association between aberrant sensory features and restricted, repetitive behaviors in children with autism (N=67) and those with developmental delays (N=42). Confirmatory factor analysis was used to empirically validate three sensory constructs of interest: hyperresponsiveness, hyporesponsiveness, and sensory seeking. Examining the association between the three derived sensory factor scores and scores on the Repetitive Behavior Scales--Revised revealed the co-occurrence of these behaviors in both clinical groups. Specifically, high levels of hyperresponsive behaviors predicted high levels of repetitive behaviors, and the relationship between these variables remained the same controlling for mental age. We primarily found non-significant associations between hyporesponsiveness or sensory seeking and repetitive behaviors, with the exception that sensory seeking was associated with ritualistic/sameness behaviors. These findings suggest that shared neurobiological mechanisms may underlie hyperresponsive sensory symptoms and repetitive behaviors and have implications for diagnostic classification as well as intervention.

Facilitating relational framing in children and individuals with developmental delay using the relational completion procedure.

PubMed

Walsh, Sinead; Horgan, Jennifer; May, Richard J; Dymond, Simon; Whelan, Robert

2014-01-01

The Relational Completion Procedure is effective for establishing same, opposite and comparative derived relations in verbally able adults, but to date it has not been used to establish relational frames in young children or those with developmental delay. In Experiment 1, the Relational Completion Procedure was used with the goal of establishing two 3-member sameness networks in nine individuals with Autism Spectrum Disorder (eight with language delay). A multiple exemplar intervention was employed to facilitate derived relational responding when required. Seven of nine participants in Experiment 1 passed tests for derived relations. In Experiment 2, eight participants (all of whom, except one, had a verbal repertoire) were given training with the aim of establishing two 4-member sameness networks. Three of these participants were typically developing young children aged between 5 and 6 years old, all of whom demonstrated derived relations, as did four of the five participants with developmental delay. These data demonstrate that it is possible to reliably establish derived relations in young children and those with developmental delay using an automated procedure. © Society for the Experimental Analysis of Behavior.

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.

Behaviour and Emotional Problems in Toddlers with Pervasive Developmental Disorders and Developmental Delay: Associations with Parental Mental Health and Family Functioning

ERIC Educational Resources Information Center

Herring, S.; Gray, K.; Taffe, J.; Tonge, B.; Sweeney, D.; Einfeld, S.

2006-01-01

Background: Behavioural and emotional problems occur at a high rate in children and adolescents with intellectual disability, often from a young age. Some studies have indicated that children and adolescents with autism present with even higher rates. Less is known about the presentation, development and family impact of these difficulties in…

The CHARGE Study: An Epidemiologic Investigation of Genetic and Environmental Factors Contributing to Autism

PubMed Central

Hertz-Picciotto, Irva; Croen, Lisa A.; Hansen, Robin; Jones, Carrie R.; van de Water, Judy; Pessah, Isaac N.

2006-01-01

Causes and contributing factors for autism are poorly understood. Evidence suggests that prevalence is rising, but the extent to which diagnostic changes and improvements in ascertainment contribute to this increase is unclear. Both genetic and environmental factors are likely to contribute etiologically. Evidence from twin, family, and genetic studies supports a role for an inherited predisposition to the development of autism. Nonetheless, clinical, neuroanatomic, neurophysiologic, and epidemiologic studies suggest that gene penetrance and expression may be influenced, in some cases strongly, by the prenatal and early postnatal environmental milieu. Sporadic studies link autism to xenobiotic chemicals and/or viruses, but few methodologically rigorous investigations have been undertaken. In light of major gaps in understanding of autism, a large case–control investigation of underlying environmental and genetic causes for autism and triggers of regression has been launched. The CHARGE (Childhood Autism Risks from Genetics and Environment) study will address a wide spectrum of chemical and biologic exposures, susceptibility factors, and their interactions. Phenotypic variation among children with autism will be explored, as will similarities and differences with developmental delay. The CHARGE study infrastructure includes detailed developmental assessments, medical information, questionnaire data, and biologic specimens. The CHARGE study is linked to University of California–Davis Center for Children’s Environmental Health laboratories in immunology, xenobiotic measurement, cell signaling, genomics, and proteomics. The goals, study design, and data collection protocols are described, as well as preliminary demographic data on study participants and on diagnoses of those recruited through the California Department of Developmental Services Regional Center System. PMID:16835068

Gross Motor Development, Movement Abnormalities, and Early Identification of Autism

PubMed Central

Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

2015-01-01

Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with the DD and Autism-No Regression groups both showing later developing motor maturity than typical children. The only statistically significant differences in movement abnormalities were in the DD group; the two autism groups did not differ from the typical group in rates of movement abnormalities or lack of protective responses. These findings do not replicate previous investigations suggesting that early motor abnormalities seen on home video can assist in early identification of autism. PMID:17805956

Impairment in face processing in autism spectrum disorder: a developmental perspective.

PubMed

Greimel, Ellen; Schulte-Rüther, Martin; Kamp-Becker, Inge; Remschmidt, Helmut; Herpertz-Dahlmann, Beate; Konrad, Kerstin

2014-09-01

Findings on face identity and facial emotion recognition in autism spectrum disorder (ASD) are inconclusive. Moreover, little is known about the developmental trajectory of face processing skills in ASD. Taking a developmental perspective, the aim of this study was to extend previous findings on face processing skills in a sample of adolescents and adults with ASD. N = 38 adolescents and adults (13-49 years) with high-functioning ASD and n = 37 typically developing (TD) control subjects matched for age and IQ participated in the study. Moreover, n = 18 TD children between the ages of 8 and 12 were included to address the question whether face processing skills in ASD follow a delayed developmental pattern. Face processing skills were assessed using computerized tasks of face identity recognition (FR) and identification of facial emotions (IFE). ASD subjects showed impaired performance on several parameters of the FR and IFE task compared to TD control adolescents and adults. Whereas TD adolescents and adults outperformed TD children in both tasks, performance in ASD adolescents and adults was similar to the group of TD children. Within the groups of ASD and control adolescents and adults, no age-related changes in performance were found. Our findings corroborate and extend previous studies showing that ASD is characterised by broad impairments in the ability to process faces. These impairments seem to reflect a developmentally delayed pattern that remains stable throughout adolescence and adulthood.

Effects of Symptoms of Comorbid Psychopathology on Challenging Behaviors among Atypically Developing Infants and Toddlers as Assessed with the Baby and Infant Screen for Children with Autism Traits (BISCUIT)

ERIC Educational Resources Information Center

Matson, Johnny L.; Mahan, Sara; Sipes, Megan; Kozlowski, Alison M.

2010-01-01

Comorbid psychopathology and challenging behaviors often occur among persons with developmental disabilities. However, little attention to this issue has been reported in young children. In this study, individuals 17 through 36 months of age with varying diagnoses, such as intellectual disability, developmental delay, and Down syndrome, among…

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

PubMed

Fan, Yanjie; Qiu, Wenjuan; Wang, Lili; Gu, Xuefan; Yu, Yongguo

2016-02-01

Genomic rearrangements involving dosage change of genes have been implicated in a range of developmental disorders. Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability. However, the genetic and clinical profiles involving AUTS2 variations have not been fully characterized in Asian patients yet, and the outcome of treatments has not been reported. Here we report de novo exonic deletions of AUTS2 detected by chromosomal microarray analysis (CMA) in three Chinese children referred to the clinic for developmental delay, including two deletions involving only exon 6 (98.4 and 262 kb, respectively) and one deletion involving the C-terminal of AUTS2 (2147 kb). The phenotypic presentations of these three patients were described and compared with previous cases in literature. In addition, we presented the outcome of hormonal treatment for short stature in one patient. © 2015 Wiley Periodicals, Inc.

Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study.

PubMed

Barbaro, Josephine; Dissanayake, Cheryl

2013-01-01

The Social Attention and Communication Study involved the successful implementation of developmental surveillance of the early markers of autism spectrum disorders in a community-based setting. The objective in the current study was to determine the most discriminating and predictive markers of autism spectrum disorders used in the Social Attention and Communication Study at 12, 18 and 24 months of age, so that these could be used to identify children with autism spectrum disorders with greater accuracy. The percentage of 'yes/no' responses for each behavioural marker was compared between children with autistic disorder (n = 39), autism spectrum disorder (n = 50) and developmental and/or language delay (n = 20) from 12 to 24 months, with a logistic regression also conducted at 24 months. Across all ages, the recurring key markers of both autistic disorder and autism spectrum disorder were deficits in eye contact and pointing, and from 18 months, deficits in showing became an important marker. In combination, these behaviours, along with pretend play, were found to be the best group of predictors for a best estimate diagnostic classification of autistic disorder/autism spectrum disorder at 24 months. It is argued that the identified markers should be monitored repeatedly during the second year of life by community health-care professionals.

Prenatal exposure to a common organophosphate insecticide delays motor development in a mouse model of idiopathic autism.

PubMed

De Felice, Alessia; Scattoni, Maria Luisa; Ricceri, Laura; Calamandrei, Gemma

2015-01-01

Autism spectrum disorders are characterized by impaired social and communicative skills and repetitive behaviors. Emerging evidence supported the hypothesis that these neurodevelopmental disorders may result from a combination of genetic susceptibility and exposure to environmental toxins in early developmental phases. This study assessed the effects of prenatal exposure to chlorpyrifos (CPF), a widely diffused organophosphate insecticide endowed with developmental neurotoxicity at sub-toxic doses, in the BTBR T+tf/J mouse strain, a validated model of idiopathic autism that displays several behavioral traits relevant to the autism spectrum. To this aim, pregnant BTBR mice were administered from gestational day 14 to 17 with either vehicle or CPF at a dose of 6 mg/kg/bw by oral gavages. Offspring of both sexes underwent assessment of early developmental milestones, including somatic growth, motor behavior and ultrasound vocalization. To evaluate the potential long-term effects of CPF, two different social behavior patterns typically altered in the BTBR strain (free social interaction with a same-sex companion in females, or interaction with a sexually receptive female in males) were also examined in the two sexes at adulthood. Our findings indicate significant effects of CPF on somatic growth and neonatal motor patterns. CPF treated pups showed reduced weight gain, delayed motor maturation (i.e., persistency of immature patterns such as pivoting at the expenses of coordinated locomotion) and a trend to enhanced ultrasound vocalization. At adulthood, CPF associated alterations were found in males only: the altered pattern of investigation of a sexual partner, previously described in BTBR mice, was enhanced in CPF males, and associated to increased ultrasonic vocalization rate. These findings strengthen the need of future studies to evaluate the role of environmental chemicals in the etiology of neurodevelopment disorders.

Autism and parents' education. New data from the developing world.

PubMed

Al-Eithan, Muwafak H; Balkhi, Sohair H; Al-Bluwi, Amal M

2010-04-01

To investigate the link between autism disorders and engineering training of parents. All Autistic-Pervasive Developmental Disorders (PDD) children that were diagnosed on the bases of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV), and met the required criteria for autism, over a defined period (March 2006 to June 2007) were included. We then took all non-PDD developmental disorders cases seen during the same time frame as the autistic children as a control; these included speech delay, mental retardation, and Down's syndrome. Our data covered demographic data, parents and grandparents' education, and profession. Parents' education/professions were classified into 2 groups only, 1-engineering or mathematician; and 2-humanities, neither engineering nor math. The children were divided into 2 groups, autism (57 cases), and developmental disorders (40 cases). Regarding the main question of this study (hypothesized engineering link), the data showed some differences between the 2 groups (x2 = 2.503, degrees of freedom [df] = 1; p = 0.093), but not of major significance. There was no significant difference (x2 = 0.370; df = 2; p = 0.831) between the 2 groups on the variable of consanguinity. We have found that the Saudi Arabian sample, though relatively small, has considerable similarities with both the UK and USA data. There is a possibility of an association between autism and the engineering/math training of fathers. The implication is briefly discussed.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

PubMed

Lee, Jin Sook; Hwang, Hee; Kim, Soo Yeon; Kim, Ki Joong; Choi, Jin Sun; Woo, Mi Jung; Choi, Young Min; Jun, Jong Kwan; Lim, Byung Chan; Chae, Jong Hee

2018-09-01

Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea. We conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR. We found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13. This study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability. © The Korean Society for Laboratory Medicine.

The Usefulness of M-B CDI-K Short Form as Screening Test in Children With Language Developmental Delay.

PubMed

Kim, Seong Woo; Jeon, Ha Ra; Park, Eun Ji; Kim, Hyo In; Jung, Da Wa; Woo, Mee Ryung

2014-06-01

To investigate the usefulness of MacArthur-Bates Communicative Development Inventories-Korean (M-B CDI-K) short form as a screening test in children with language developmental delay. From April 2010 to May 2012, a total of 87 patients visited the department of physical medicine and rehabilitation of National Health Insurance Service Ilsan Hospital with the complaint of language developmental delay and were enrolled in this study. All patients took M-B CDI-K short form and Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES) according to their age. The study group consisted of 58 male patients and 29 female patients and the mean age was 25.9 months. The diagnosis are global developmental delay in 26 patients, selective language impairment in 31 patients, articulation disorder in 7 patients, cerebral palsy in 8 patients, autism spectrum disorder in 4 patients, motor developmental delay in 4 patients, and others in 7 patients. Seventy-one patients are diagnosed with language developmental delay in SELSI or PRES and of them showed 69 patients a high risk in the M-B CDI-K short form. Sixteen patients are normal in SELSI or PRES and of them showed 14 patients non-high risk in the M-B CDI-K short form. The M-B CDI-K short form has 97.2% sensitivity, 87.5% specificity, a positive predictive value of 0.97, and a negative predictive value of 0.88. The M-B CDI-K short form has a high sensitivity and specificity so it is considered as an useful screening tool in children with language developmental delay. Additional researches targeting normal children will be continued to supply the specificity of the M-B CDI-K short form.

Early Generalized Overgrowth in Boys With Autism

PubMed Central

Chawarska, Katarzyna; Campbell, Daniel; Chen, Lisha; Shic, Frederick; Klin, Ami; Chang, Joseph

2016-01-01

Context Multiple studies have reported an overgrowth in head circumference (HC) in the first year of life in autism. However, it is unclear whether this phenomenon is independent of overall body growth and whether it is associated with specific social or cognitive features. Objectives To examine the trajectory of early HC growth in autism compared with control groups; to assess whether HC growth in autism is independent of height and weight growth during infancy; and to examine HC growth from birth to 24 months in relationship to social, verbal, cognitive, and adaptive functioning levels. Design Retrospective study. Setting A specialized university-based clinic. Participants Boys diagnosed as having autistic disorder (n=64), pervasive developmental disorder–not otherwise specified (n=34), global developmental delay (n=13), and other developmental problems (n=18) and typically developing boys (n=55). Main Outcome Measures Age-related changes in HC, height, and weight between birth and age 24 months; measures of social, verbal, and cognitive functioning at age 2 years. Results Compared with typically developing controls, boys with autism were significantly longer by age 4.8 months, had a larger HC by age 9.5 months, and weighed more by age 11.4 months (P=.05 for all). None of the other clinical groups showed a similar overgrowth pattern. Boys with autism who were in the top 10% of overall physical size in infancy exhibited greater severity of social deficits (P=.009) and lower adaptive functioning (P=.03). Conclusions Boys with autism experienced accelerated HC growth in the first year of life. However, this phenomenon reflected a generalized process affecting other morphologic features, including height and weight. The study highlights the importance of studying factors that influence not only neuronal development but also skeletal growth in autism. PMID:21969460

Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model.

PubMed

Dawson, Geraldine; Rogers, Sally; Munson, Jeffrey; Smith, Milani; Winter, Jamie; Greenson, Jessica; Donaldson, Amy; Varley, Jennifer

2010-01-01

To conduct a randomized, controlled trial to evaluate the efficacy of the Early Start Denver Model (ESDM), a comprehensive developmental behavioral intervention, for improving outcomes of toddlers diagnosed with autism spectrum disorder (ASD). Forty-eight children diagnosed with ASD between 18 and 30 months of age were randomly assigned to 1 of 2 groups: (1) ESDM intervention, which is based on developmental and applied behavioral analytic principles and delivered by trained therapists and parents for 2 years; or (2) referral to community providers for intervention commonly available in the community. Compared with children who received community-intervention, children who received ESDM showed significant improvements in IQ, adaptive behavior, and autism diagnosis. Two years after entering intervention, the ESDM group on average improved 17.6 standard score points (1 SD: 15 points) compared with 7.0 points in the comparison group relative to baseline scores. The ESDM group maintained its rate of growth in adaptive behavior compared with a normative sample of typically developing children. In contrast, over the 2-year span, the comparison group showed greater delays in adaptive behavior. Children who received ESDM also were more likely to experience a change in diagnosis from autism to pervasive developmental disorder, not otherwise specified, than the comparison group. This is the first randomized, controlled trial to demonstrate the efficacy of a comprehensive developmental behavioral intervention for toddlers with ASD for improving cognitive and adaptive behavior and reducing severity of ASD diagnosis. Results of this study underscore the importance of early detection of and intervention in autism.

Convergent and divergent validity of the Mullen Scales of Early Learning in young children with and without autism spectrum disorder.

PubMed

Swineford, Lauren B; Guthrie, Whitney; Thurm, Audrey

2015-12-01

The purpose of this study was to report on the construct, convergent, and divergent validity of the Mullen Scales of Early Learning (MSEL), a widely used test of development for young children. The sample consisted of 399 children with a mean age of 3.38 years (SD = 1.14) divided into a group of children with autism spectrum disorder (ASD) and a group of children not on the autism spectrum, with and without developmental delays. The study used the MSEL and several other measures assessing constructs relevant to the age range--including developmental skills, autism symptoms, and psychopathology symptoms--across multiple methods of assessment. Multiple-group confirmatory factor analyses revealed good overall fit and equal form of the MSEL 1-factor model across the ASD and nonspectrum groups, supporting the construct validity of the MSEL. However, neither full nor partial invariance of factor loadings was established because of the lower loadings in the ASD group compared with the nonspectrum group. Exploratory structural equation modeling revealed that other measures of developmental skills loaded together with the MSEL domain scores on a Developmental Functioning factor, supporting convergent validity of the MSEL. Divergent validity was supported by the lack of loading of MSEL domain scores on Autism Symptoms or Emotion/Behavior Problems factors. Although factor structure and loadings varied across groups, convergent and divergent validity findings were similar in the ASD and nonspectrum samples. Together, these results demonstrate evidence for the construct, convergent, and divergent validity of the MSEL using powerful data-analytic techniques. (c) 2015 APA, all rights reserved).

Do children with tuberous sclerosis complex have superior musical skill?--A unique tendency of musical responsiveness in children with TSC.

PubMed

Matsuyama, Kumi; Ohsawa, Isao; Ogawa, Toyoaki

2007-04-01

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that manifests with symptoms that might include mental retardation, epilepsy, skin lesions, and hamartomas in the heart, brain, and kidneys. Anecdotal reports have characterized children with TSC as having high music responsiveness despite their developmental delay. This study is intended to investigate this putative musical skill of children with TSC and to elucidate the presence of non-delayed facets of their development. This study examined 11 children with TSC: 10 children with DSM-IV autism and 92 healthy children who participated as control subjects. Correlation was examined between results obtained using Non-Verbal MMRC, which is a validated musical responsiveness battery, and results of a scientifically accepted standardized pediatric developmental test: the New Edition of the Kyoto Scale of Psychological Development. Inter-rater reliability among the three raters was also assessed. The rhythm or melody score on the Non-Verbal MMRC and DA among children with TSC showed no significant correlation. In contrast, a significant correlation was found among normal children and those with autism. Moreover, the inter-rater reliability was good. The results demonstrate that children with TSC show high responsiveness to musical stimuli despite otherwise delayed development (e.g., language, cognition, motor skills). This report is the first stating that children with TSC have a unique tendency in terms of correlation between music and developmental age. These findings indicate a non-delayed area of TSC children's development and suggest the use of music as therapeutic intervention.

Effects of Serial and Concurrent Training on Receptive Identification Tasks: A Systematic Replication

ERIC Educational Resources Information Center

Wunderlich, Kara L.; Vollmer, Timothy R.

2017-01-01

The current study compared the use of serial and concurrent methods to train multiple exemplars when teaching receptive language skills, providing a systematic replication of Wunderlich, Vollmer, Donaldson, and Phillips (2014). Five preschoolers diagnosed with developmental delays or autism spectrum disorders were taught to receptively identify…

Developmental Path between Language and Autistic-Like Impairments: A Twin Study

ERIC Educational Resources Information Center

Dworzynski, Katharina; Ronald, Angelica; Hayiou-Thomas, Marianna E.; McEwan, Fiona; Happe, Francesca; Bolton, Patrick; Plomin, Robert

2008-01-01

Autism spectrum disorders (ASDs) are diagnosed when individuals show impairments in three behavioural domains: communication, social interactions, and repetitive, restrictive behaviours and interests (RRBIs). Recent data suggest that these three sets of behaviours are genetically heterogeneous. Early language delay is strongly associated with ASD,…

Teaching Preschool Children with Autism and Developmental Delays to Write

ERIC Educational Resources Information Center

Carlson, Brittany; McLaughlin, T. F.; Derby, K. Mark; Blecher, Jessiana

2009-01-01

Introduction: "Handwriting Without Tears"[R] program (Olsen, 1998) has been suggested as an appropriate set of procedures to teach students with and without disabilities skills in written communication. Unfortunately, there has been little research in the peer reviewed literature where the program has been employed to teach children with…

Variation in vocal-motor development in infant siblings of children with autism.

PubMed

Iverson, Jana M; Wozniak, Robert H

2007-01-01

In this study we examined early motor, vocal, and communicative development in a group of younger siblings of children diagnosed with autism (Infant Siblings). Infant Siblings and no-risk comparison later-born infants were videotaped at home with a primary caregiver each month from 5 to 14 months, with follow-up at 18 months. As a group, Infant Siblings were delayed in the onset of early developmental milestones and spent significantly less time in a greater number of postures, suggestive of relative postural instability. In addition, they demonstrated attenuated patterns of change in rhythmic arm activity around the time of reduplicated babble onset; and they were highly likely to exhibit delayed language development at 18 months.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

PubMed

Burnside, Rachel D; Pasion, Romela; Mikhail, Fady M; Carroll, Andrew J; Robin, Nathaniel H; Youngs, Erin L; Gadi, Inder K; Keitges, Elizabeth; Jaswaney, Vikram L; Papenhausen, Peter R; Potluri, Venkateswara R; Risheg, Hiba; Rush, Brooke; Smith, Janice L; Schwartz, Stuart; Tepperberg, James H; Butler, Merlin G

2011-10-01

The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.

Methodological issues and evidence of malfeasance in research purporting to show thimerosal in vaccines is safe.

PubMed

Hooker, Brian; Kern, Janet; Geier, David; Haley, Boyd; Sykes, Lisa; King, Paul; Geier, Mark

2014-01-01

There are over 165 studies that have focused on Thimerosal, an organic-mercury (Hg) based compound, used as a preservative in many childhood vaccines, and found it to be harmful. Of these, 16 were conducted to specifically examine the effects of Thimerosal on human infants or children with reported outcomes of death; acrodynia; poisoning; allergic reaction; malformations; auto-immune reaction; Well's syndrome; developmental delay; and neurodevelopmental disorders, including tics, speech delay, language delay, attention deficit disorder, and autism. In contrast, the United States Centers for Disease Control and Prevention states that Thimerosal is safe and there is "no relationship between [T]himerosal[-]containing vaccines and autism rates in children." This is puzzling because, in a study conducted directly by CDC epidemiologists, a 7.6-fold increased risk of autism from exposure to Thimerosal during infancy was found. The CDC's current stance that Thimerosal is safe and that there is no relationship between Thimerosal and autism is based on six specific published epidemiological studies coauthored and sponsored by the CDC. The purpose of this review is to examine these six publications and analyze possible reasons why their published outcomes are so different from the results of investigations by multiple independent research groups over the past 75+ years.

Methodological Issues and Evidence of Malfeasance in Research Purporting to Show Thimerosal in Vaccines Is Safe

PubMed Central

Kern, Janet; Geier, David; Haley, Boyd; King, Paul; Geier, Mark

2014-01-01

There are over 165 studies that have focused on Thimerosal, an organic-mercury (Hg) based compound, used as a preservative in many childhood vaccines, and found it to be harmful. Of these, 16 were conducted to specifically examine the effects of Thimerosal on human infants or children with reported outcomes of death; acrodynia; poisoning; allergic reaction; malformations; auto-immune reaction; Well's syndrome; developmental delay; and neurodevelopmental disorders, including tics, speech delay, language delay, attention deficit disorder, and autism. In contrast, the United States Centers for Disease Control and Prevention states that Thimerosal is safe and there is “no relationship between [T]himerosal[-]containing vaccines and autism rates in children.” This is puzzling because, in a study conducted directly by CDC epidemiologists, a 7.6-fold increased risk of autism from exposure to Thimerosal during infancy was found. The CDC's current stance that Thimerosal is safe and that there is no relationship between Thimerosal and autism is based on six specific published epidemiological studies coauthored and sponsored by the CDC. The purpose of this review is to examine these six publications and analyze possible reasons why their published outcomes are so different from the results of investigations by multiple independent research groups over the past 75+ years. PMID:24995277

Impact of bilirubin-induced neurologic dysfunction on neurodevelopmental outcomes

PubMed Central

Loe, Irene M.

2015-01-01

Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and th neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism. PMID:25585889

Parental concerns, provider response, and timeliness of autism spectrum disorder diagnosis.

PubMed

Zuckerman, Katharine Elizabeth; Lindly, Olivia Jasmine; Sinche, Brianna Kathleen

2015-06-01

To assess differences between child age at first parental concern and age at first parental discussion of concerns with a health care provider among children with autism spectrum disorder (ASD) vs those with intellectual disability/developmental delay (ID/DD), and to assess whether provider response to parental concerns is associated with delays in ASD diagnosis. Using nationally representative data from the 2011 Survey of Pathways to Diagnosis and Treatment, we compared child age at parent's first developmental concern with age at first discussion of concerns with a provider, and categorized provider response as proactive or reassuring/passive, among 1420 children with ASD and 2098 children with ID/DD. In the children with ASD, we tested the association between provider response type and years of diagnostic delay. Compared with children with ID/DD, children with ASD were younger when parents first had concerns and first discussed those concerns with a provider. Compared with parents of children with ID/DD, parents of children with ASD were less likely to receive proactive responses to their concerns and more likely to receive reassuring/passive responses. Among children with ASD, those with more proactive provider responses to concerns had shorter delays in ASD diagnosis compared with those with passive/reassuring provider responses. Although parents of children with ASD have early concerns, delays in diagnosis are common, particularly when providers' responses are reassuring or passive, highlighting the need for targeted improvements in primary care. Copyright © 2015 Elsevier Inc. All rights reserved.

Early-Emerging Social Adaptive Skills in Toddlers with Autism Spectrum Disorders: An Item Analysis

ERIC Educational Resources Information Center

Ventola, Pamela; Saulnier, Celine A.; Steinberg, Elizabeth; Chawarska, Katarzyna; Klin, Ami

2014-01-01

Individuals with ASD have significant impairments in adaptive skills, particularly adaptive socialization skills. The present study examined the extent to which 20 items from the Vineland Adaptive Behavior Scales-Socialization Domain differentiated between ASD and developmentally delayed (DD) groups. Participants included 108 toddlers with ASD or…

A Discrepancy in Comprehension and Production in Early Language Development in ASD: Is It Clinically Relevant?

ERIC Educational Resources Information Center

Davidson, Meghan M.; Ellis Weismer, Susan

2017-01-01

This study examined the extent to which a discrepant comprehension-production profile (i.e., relatively more delayed comprehension than production) is characteristic of the early language phenotype in autism spectrum disorders (ASD) and tracked the developmental progression of the profile. Our findings indicated that a discrepant…

[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].

PubMed

Nozaki, Fumihito; Kumada, Tomohiro; Shibata, Minoru; Fujii, Tatsuya; Wada, Takahito; Osaka, Hitoshi

2015-01-01

Creatine transporter deficiency (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and seizures. We report the third Japanese family with CRTR-D. The proband was an 8-year-old boy who presented with hypotonia, severe intellectual disability and two episodes of seizures associated with/without fever. Among 7 siblings (4 males, 3 females), the eldest brother had severe intellectual disability, epilepsy, and sudden death at 17 years of age, while 18-year-old third elder brother had severe intellectual disability, autism, and drug-resistant epilepsy. The proband's urinary creatine/creatinine ratio was increased. A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D. The same mutation was found in the third elder brother. Their mother was a heterozygote. Symptoms of CRTR-D are non-specific. Urinary creatine/creatinine ratio should be measured in patients with hypotonia, developmental delay, seizure and autism whose family history indicates an X-linked inheritance.

[Asperger's syndrome: continuum or spectrum of autistic disorders?].

PubMed

Bryńska, Anita

2011-01-01

Pervasive Developmental Disorders (PPD) refers to the group of disorders characterised by delayed or inappropriate development of multiple basic functions including socialisation, communication, behaviour and cognitive functioning. The term,,autistic spectrum disorders" was established as a result of the magnitude of the intensity of symptoms and their proportions observed in all types of pervasive developmental disorders. Asperger's Syndrome (AS) remains the most controversial diagnosis in terms of its place within autism spectrum disorders. AS if often described as an equivalent of High Functioning Autism (HFA) or as a separate spectrum-related disorder with unique diagnostic criteria. Another important issue is the relationship between AS and speech disorders. Although it is relatively easy to draw a line between children with classical autism and speech disorders, the clear cut frontiers between them still remain to be found. The main distinguishing feature is the lack of stereotypic interests and unimpaired social interaction observed in children with speech disorders, such as semantic-pragmatic disorder.

Outcomes in a population of healthy term and near-term infants with serum bilirubin levels of >or=325 micromol/L (>or=19 mg/dL) who were born in Nova Scotia, Canada, between 1994 and 2000.

PubMed

Jangaard, Krista A; Fell, Deshayne B; Dodds, Linda; Allen, Alexander C

2008-07-01

The goal was to study the incidence of kernicterus, developmental delay, autism, cerebral palsy, and hearing loss in infants with peak total serum bilirubin levels of >or=325 micromol/L (>or=19 mg/dL), compared with infants with less-severe or no hyperbilirubinemia, in a population of healthy term and late preterm infants. Prospectively gathered, standardized, maternal and neonatal data for infants at >or=35 weeks of gestation who were born between January 1, 1994, and December 31, 2000, were extracted from the Nova Scotia Atlee Perinatal Database. Infants with Rh factor isoimmunization, significant congenital or chromosomal abnormalities, or severe peripartum asphyxia were excluded. Comparisons were made on the basis of peak total serum bilirubin levels. Diagnoses were obtained through data linkage with the Medical Services Insurance Database for office visits and the Canadian Institute for Health Information Database for hospital admissions. The registration file provided information allowing calculation of follow-up times, which were determined for each separate outcome. Follow-up periods ranged from 2 to 9 years, with the end point being the first time the diagnostic code was encountered in either database. Cox proportional-hazards regression analyses were used to examine the relationships between outcomes and total serum bilirubin levels. Of 61238 infants included in the study cohort, 4010 (6.7%) did not have linkage data, which left 56019 infants for analysis. There were no cases of kernicterus and no significant differences in rates of cerebral palsy, deafness, developmental delay, or visual abnormalities between the groups. There were suggestions of associations with attention-deficit disorder in the severe hyperbilirubinemia group and with autism in the combined moderate and severe hyperbilirubinemia group. There was no increase in adverse effects reported previously to be associated with bilirubin toxicity. Associations with developmental delay, attention-deficit disorder, and autism were observed.

A national profile of the health care experiences and family impact of autism spectrum disorder among children in the United States, 2005-2006.

PubMed

Kogan, Michael D; Strickland, Bonnie B; Blumberg, Stephen J; Singh, Gopal K; Perrin, James M; van Dyck, Peter C

2008-12-01

We sought to examine the health care experiences of children with autism spectrum disorder and the impact of autism spectrum disorder on the family and to assess whether having a medical home is associated with less family impact. We used the 2005-2006 National Survey of Children With Special Health Care Needs to compare 2088 children with special health care needs, aged 3 to 17 years, reported by their parents to have autism spectrum disorder, with children with special health care needs with "other emotional, developmental, or behavioral problems" (excluding autism spectrum disorder; n=9534) and 26751 other children with special health care needs. We used weighted logistic regression to examine unmet needs for specific health care and support services, delayed care, no usual care source or personal physician, difficulty receiving referrals, and financial, employment, or time problems because of child's care. Nationally, an estimated 535000 children have special health care needs and autism spectrum disorder, a prevalence of 86 per 10000 children aged 3 to 17 years. Among children with special health care needs, 5.6% have autism spectrum disorder. Compared with other children with special health care needs without emotional, developmental, or behavioral problems, children with special health care needs with autism spectrum disorder were more likely to have unmet needs for specific health care services, family support services, delayed or foregone care, difficulty receiving referrals, and care that is not family centered. Children with special health care needs with autism spectrum disorder were more likely to live in families that report financial problems, need additional income for the child's medical care, reduce or stop work because of the child's condition, spend >or=10 hours per week providing or coordinating care, and paid more than $1000 in the previous year for the child's care. The financial impacts of autism spectrum disorder were significantly more burdensome when children with special health care needs did not have a medical home. Children with special health care needs with autism spectrum disorder are significantly more likely to have problems regarding access to care and unmet needs, and their families have greater financial, employment, and time burdens compared with other children with special health care needs. Receipt of primary care in a medical home may reduce these burdens.

Deconstructing executive deficits among persons with autism: implications for cognitive neuroscience.

PubMed

Russo, Natalie; Flanagan, Tara; Iarocci, Grace; Berringer, Darlene; Zelazo, Philip David; Burack, Jacob A

2007-10-01

Individuals with autism demonstrate impairments on measures of executive function (EF) relative to typically developing comparison participants. EF is comprised of several processes including inhibition, working memory and set shifting that develop throughout the lifespan. Impairments in EF may appear early in development and persist, or may represent a more transient delay which resolves with time. Given the unevenness of the cognitive profile of persons with autism, understanding the development of EF poses methodological challenges. These issues include those related to matching measures and the choice of comparison participants to which the performance of persons with autism will be compared. In the current review, we attempt to break down the processes of inhibition, working memory and set shifting among persons with autism. We propose to do this within a developmental perspective that highlights how matching measures and comparison participants can affect the interpretation of research findings.

Impact of bilirubin-induced neurologic dysfunction on neurodevelopmental outcomes.

PubMed

Wusthoff, Courtney J; Loe, Irene M

2015-02-01

Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and the neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism. Copyright © 2014 Elsevier Ltd. All rights reserved.

Description of a Sleep-Restriction Program to Reduce Bedtime Disturbances and Night Waking

ERIC Educational Resources Information Center

Durand, V. Mark; Christodulu, Kristin V.

2004-01-01

The authors describe a behavioral intervention designed to reduce sleep problems without increasing disruption at bedtime or throughout the evening. Sleep restriction was used to reduce the bedtime and nighttime sleep problems of two children, a 4-year-old girl with autism and a 4-year-old girl with developmental delay. Sleep restriction involved…

Oral dexmedetomidine for preoperative sedation in an adult uncooperative autistic patient.

PubMed

Konia, Mojca Remskar

2016-11-01

We describe preoperative sedation with oral dexmedetomidine 5 mcg/kg in an uncooperative adult with autism and developmental delay. The sedation with oral dexmedetomidine achieved good sedation level (Ramsey 4-5), allowing for calm transfer of the patient to the operating room and uneventful induction of anesthesia. Copyright © 2016 Elsevier Inc. All rights reserved.

Engaging the Resistant Child through Computers: A Manual To Facilitate Social and Emotional Learning.

ERIC Educational Resources Information Center

Elias, Maurice J.; Friedlander, Brian S.; Tobias, Steven E.

This book shows how to use readily accessible computer technology to engage hard-to-reach children, including those with attention deficit disorder, autism, aspergers, and developmental delays. The authors demonstrate that the computer's ability to combine motion, sound, color, text, and physical activity makes it a cutting-edge approach. The…

Autism Research: Music Aptitude's Effect on Developmental/Academic Gains for Students with Significant Cognitive/Language Delays

ERIC Educational Resources Information Center

Sobol, Elise S.

2014-01-01

This research study was built upon findings in neuroscience of the brain's natural ability to physically change itself through cognitive modifiability by creating new pathways and neural connections. The purpose of the research was to investigate instructional music applications for improvement in basic math skills with students who are on the…

Accurate or Assumed: Visual Learning in Children with ASD

ERIC Educational Resources Information Center

Trembath, David; Vivanti, Giacomo; Iacono, Teresa; Dissanayake, Cheryl

2015-01-01

Children with autism spectrum disorder (ASD) are often described as visual learners. We tested this assumption in an experiment in which 25 children with ASD, 19 children with global developmental delay (GDD), and 17 typically developing (TD) children were presented a series of videos via an eye tracker in which an actor instructed them to…

Screening for ASD with the Korean CBCL/1½-5

ERIC Educational Resources Information Center

Rescorla, Leslie; Kim, Young Ah; Oh, Kyung Ja

2015-01-01

To test the Child Behavior Checklist's (CBCL/1½-5) ability to screen for autism spectrum disorders (ASD), we studied Korean preschoolers: 46 with ASD, 111 with developmental delay (DD), 71 with other psychiatric disorders (OPD), and 228 non-referred (NR). The ASD group scored significantly higher than the other groups on the Withdrawn and…

Familiar Face Recognition in Children with Autism: The Differential Use of Inner and Outer Face Parts

ERIC Educational Resources Information Center

Wilson, Rebecca; Pascalis, Olivier; Blades, Mark

2007-01-01

We investigated whether children with autistic spectrum disorders (ASD) have a deficit in recognising familiar faces. Children with ASD were given a forced choice familiar face recognition task with three conditions: full faces, inner face parts and outer face parts. Control groups were children with developmental delay (DD) and typically…

A Pilot Study Examining the Test-Retest and Internal Consistency Reliability of the ABLLS-R

ERIC Educational Resources Information Center

Partington, James W.; Bailey, Autumn; Partington, Scott W.

2018-01-01

The literature contains a variety of assessment tools for measuring the skills of individuals with autism or other developmental delays, but most lack adequate empirical evidence supporting their reliability and validity. The current pilot study sought to examine the reliability of scores obtained from the Assessment of Basic Language and Learning…

Proposed changes to the American Psychiatric Association diagnostic criteria for autism spectrum disorder: implications for young children and their families.

PubMed

Grant, Roy; Nozyce, Molly

2013-05-01

The American Psychiatric Association has revised the diagnostic criteria for their DSM-5 manual. Important changes have been made to the diagnosis of the current (DSM-IV) category of Pervasive Developmental Disorders. This category includes Autistic Disorder (autism), Asperger's Disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). The DSM-5 deletes Asperger's Disorder and PDD-NOS as diagnostic entities. This change may have unintended consequences, including the possibility that the new diagnostic framework will adversely affect access to developmental interventions under Individuals with Disabilities Education Act (IDEA) programs, Early Intervention (for birth to 2 years olds) and preschool special education (for 3 and 4 years olds). Changing the current diagnosis of PDD-NOS to a "Social Communication Disorder" focused on language pragmatics in the DSM-5 may restrict eligibility for IDEA programs and limit the scope of services for affected children. Young children who meet current criteria for PDD-NOS require more intensive and multi-disciplinary services than would be available with a communication domain diagnosis and possible service authorization limited to speech-language therapy. Intensive behavioral interventions, inclusive group setting placements, and family support services are typically more available for children with an autism spectrum disorder than with diagnoses reflecting speech-language delay. The diagnostic distinction reflective of the higher language and social functioning between Asperger's Disorder and autism is also undermined by eliminating the former as a categorical diagnosis and subsuming it under autism. This change may adversely affect treatment planning and misinform parents about prognosis for children who meet current criteria for Asperger's Disorder.

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

PubMed

Castells-Sarret, Neus; Cueto-González, Anna M; Borregan, Mar; López-Grondona, Fermina; Miró, Rosa; Tizzano, Eduardo; Plaja, Alberto

2017-09-25

Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders. Our aim is to evaluate the efficiency of the use of aCGH as first-line test in these and other indications (epilepsy, short stature). A total of 1000 patients referred due to one or more of the abovementioned disorders were analysed by aCGH. Pathogenic genomic imbalances were detected in 14% of the cases, with a variable distribution of diagnosis according to the phenotypes: 18.9% of patients with developmental delay/intellectual disability; 13.7% of multiple congenital anomalies, 9.76% of psychiatric pathologies, 7.02% of patients with epilepsy, and 13.3% of patients with short stature. Within the multiple congenital anomalies, central nervous system abnormalities and congenital heart diseases accounted for 14.9% and 10.6% of diagnoses, respectively. Among the psychiatric disorders, patients with autism spectrum disorders accounted for 8.9% of the diagnoses. Our results demonstrate the effectiveness and efficiency of the use of aCGH as the first line test in genetic diagnosis of patients suspected of genomic imbalances, supporting its inclusion within the National Health System. Copyright © 2017. Publicado por Elsevier España, S.L.U.

Prenatal SSRI Use and Offspring With Autism Spectrum Disorder or Developmental Delay

PubMed Central

Lee, Li-Ching; Crum, Rosa M.; Zimmerman, Andrew W.; Hertz-Picciotto, Irva

2014-01-01

OBJECTIVE: To examine associations between prenatal use of selective serotonin reuptake inhibitors (SSRIs) and the odds of autism spectrum disorders (ASDs) and other developmental delays (DDs). METHODS: A total of 966 mother-child pairs were evaluated (492 ASD, 154 DD, 320 typical development [TD]) from the Childhood Autism Risks from Genetics and the Environment (CHARGE) Study, a population-based case-control study. Standardized measures confirmed developmental status. Interviews with biological mothers ascertained prenatal SSRI use, maternal mental health history, and sociodemographic information. RESULTS: Overall, prevalence of prenatal SSRI exposure was lowest in TD children (3.4%) but did not differ significantly from ASD (5.9%) or DD (5.2%) children. Among boys, prenatal SSRI exposure was nearly 3 times as likely in children with ASD relative to TD (adjusted odds ratio [OR]: 2.91; 95% confidence interval [CI]: 1.07–7.93); the strongest association occurred with first-trimester exposure (OR: 3.22; 95% CI: 1.17–8.84). Exposure was also elevated among boys with DD (OR: 3.39; 95% CI: 0.98–11.75) and was strongest in the third trimester (OR: 4.98; 95% CI: 1.20–20.62). Findings were similar among mothers with an anxiety or mood disorder history. CONCLUSIONS: In boys, prenatal exposure to SSRIs may increase susceptibility to ASD or DD. Findings from published studies on SSRIs and ASD continues to be inconsistent. Potential recall bias and residual confounding by indication are concerns. Larger samples are needed to replicate DD results. Because maternal depression itself carries risks for the fetus, the benefits of prenatal SSRI use should be carefully weighed against potential harms. PMID:24733881

Play Behavior and Attachment in Toddlers with Autism

PubMed Central

Bakermans-Kranenburg, Marian J.; van IJzendoorn, Marinus H.; Swinkels, Sophie H. N.; Buitelaar, Jan K.; Dietz, Claudine; van Daalen, Emma; van Engeland, Herman

2007-01-01

Play helps to develop social skills. Children with autism show deviances in their play behavior that may be associated with delays in their social development. In this study, we investigated manipulative, functional and symbolic play behavior of toddlers with and without autism (mean age: 26.45, SD 5.63). The results showed that the quality of interaction between the child and the caregiver was related to the development of play behavior. In particular, security of attachment was related to better play behavior. When the developmental level of the child is taken into account, the attachment relationship of the child with the caregiver at this young age is a better predictor of the level of play behavior than the child's disorder. PMID:17896172

[Asperger syndrome: evolution of the concept and current clinical data].

PubMed

Aussilloux, C; Baghdadli, A

2008-05-01

Although Asperger syndrome is described by international classifications as a category of pervasive developmental disorder (PDD), its validity as a specific entity distinct from autistic disorders remains controversial. The syndrome, first described by Hans Asperger, could not be distinguished from high functioning autism (onset, symptoms, outcome...). However, international classifications propose a distinction between the two syndromes based on a delayed onset, the absence of speech delay, the presence of motor disorders and a better outcome in Asperger syndrome. This categorical differentiation is not confirmed by current studies and in the absence of biological markers, no clinical, neuropsychological or epidemiological criteria makes it possible to distinguish high functioning autism from Asperger syndrome. From a clinical perspective, it is nevertheless of interest to isolate Asperger syndrome from other autistic disorders to propose specific assessment and therapy.

Array comparative genome hybridization in patients with developmental delay: two example cases.

PubMed

Hancarova, Miroslava; Drabova, Jana; Zmitkova, Zuzana; Vlckova, Marketa; Hedvicakova, Petra; Novotna, Drahuse; Vlckova, Zdenka; Vejvalkova, Sarka; Marikova, Tatana; Sedlacek, Zdenek

2012-02-15

Developmental delay is often a predictor of mental retardation (MR) or autism, two relatively frequent developmental disorders severely affecting intellectual and social functioning. The causes of these conditions remain unknown in most patients. They have a strong genetic component, but the specific genetic defects can only be identified in a fraction of patients. Recent developments in genomics supported the establishment of the causal link between copy number variants in the genomes of some patients and their affection. One of the techniques suitable for this analysis is array comparative genome hybridization, which can be used both for detailed mapping of chromosome rearrangements identified by classical cytogenetics and for the identification of novel submicroscopic gains or losses of genetic material. We illustrate the power of this approach in two patients. Patient 1 had a cytogenetically visible deletion of chromosome X and the molecular analysis was used to specify the gene content of the deletion and the prognosis of the child. Patient 2 had a seemingly normal karyotype and the analysis revealed a small recurrent deletion of chromosome 1 likely to be responsible for his phenotype. However, the genetic dissection of MR and autism is complicated by high heterogeneity of the genetic aberrations among patients and by broad variability of phenotypic effects of individual genetic defects. Copyright © 2010 Elsevier B.V. All rights reserved.

Medical Conditions in the First Years of Life Associated with Future Diagnosis of ASD in Children

ERIC Educational Resources Information Center

Alexeeff, Stacey E.; Yau, Vincent; Qian, Yinge; Davignon, Meghan; Lynch, Frances; Crawford, Phillip; Davis, Robert; Croen, Lisa A.

2017-01-01

This study examines medical conditions diagnosed prior to the diagnosis of autism spectrum disorder (ASD). Using a matched case control design with 3911 ASD cases and 38,609 controls, we found that 38 out of 79 medical conditions were associated with increased ASD risk. Developmental delay, mental health, and neurology conditions had the strongest…

Variations on the Use of a Pictorial Alternative Communication System with a Child with Autism and Developmental Delays

ERIC Educational Resources Information Center

Ganz, Jennifer B.; Cook, Katherine E.; Corbin-Newsome, Jawanda; Bourgeois, Bethany; Flores, Margaret

2005-01-01

As aberrant behavior is often recognized as the number one form of communication, it becomes imperative that as parents, teachers, and educators we must address and systematically teach or provide all children with an effective means of communication. While many augmentative and alternative communication systems such as manual sign language and…

Brief Report: Infants Developing with ASD Show a Unique Developmental Pattern of Facial Feature Scanning

ERIC Educational Resources Information Center

Rutherford, M. D.; Walsh, Jennifer A.; Lee, Vivian

2015-01-01

Infants are interested in eyes, but look preferentially at mouths toward the end of the first year, when word learning begins. Language delays are characteristic of children developing with autism spectrum disorder (ASD). We measured how infants at risk for ASD, control infants, and infants who later reached ASD criterion scanned facial features.…

Peer-Mediated AAC Instruction for Young Children with Autism and other Developmental Disabilities

PubMed Central

Thiemann-Bourque, Kathy

2013-01-01

Many young children with developmental disabilities (DD) have significant delays in social, communication, and play skills. For those children learning to use augmentative and alternative communication (.AAC% successful social interactions with peers will require explicit instruction on the same system for both communication partners. Peer-mediated (PM) interventions are recommended best practice based on more than 30 years of research with young children with autism and other DDs. Integrating direct AAC instruction within PM programs to advance social reciprocity in typical preschool routines is a necessary and important next step for young AAC users. In this article, I will summarize the design and outcomes of two PM AAC studies documenting positive social outcomes for preschool children with severe autism. I will also teach} peer partners how to use AAC highlight strategies to recruit peers without disabilities systems (e.g., Picture Exchange Communication System [PECS], Speech Generating Devices [SGDs]), and engineer the preschool classroom for successful AAC communication. I will describe data collection procedures for measuring changes in reciprocal child and peer social communication interactions. PMID:24392179

Peer-Mediated AAC Instruction for Young Children with Autism and other Developmental Disabilities.

PubMed

Thiemann-Bourque, Kathy

2012-12-01

Many young children with developmental disabilities (DD) have significant delays in social, communication, and play skills. For those children learning to use augmentative and alternative communication (.AAC% successful social interactions with peers will require explicit instruction on the same system for both communication partners. Peer-mediated (PM) interventions are recommended best practice based on more than 30 years of research with young children with autism and other DDs. Integrating direct AAC instruction within PM programs to advance social reciprocity in typical preschool routines is a necessary and important next step for young AAC users. In this article, I will summarize the design and outcomes of two PM AAC studies documenting positive social outcomes for preschool children with severe autism. I will also teach } peer partners how to use AAC highlight strategies to recruit peers without disabilities systems (e.g., Picture Exchange Communication System [PECS], Speech Generating Devices [SGDs]), and engineer the preschool classroom for successful AAC communication. I will describe data collection procedures for measuring changes in reciprocal child and peer social communication interactions.

Word Learning in Children with Autism Spectrum Disorders

PubMed Central

Luyster, Rhiannon; Lord, Catherine

2010-01-01

Autism Spectrum Disorders (ASD) have been gaining attention, partly as an example of unusual developmental trajectories related to early neurobiological differences. The present investigation addressed the process of learning new words in order to explore mechanisms of language delay and impairment. The sample included 21 typically developing toddlers matched on expressive vocabulary with 21 young children with ASD. Two tasks were administered to teach children a new word and were supplemented by cognitive and diagnostic measures. In most analyses, there were no group differences in performance. Children with ASD did not consistently make mapping errors, even in word learning situations which required the use of social information. These findings indicate that some children with ASD, in developmentally appropriate tasks, are able to use information from social interactions to guide word-object mappings. This result has important implications for our understanding of how children with ASD learn language. PMID:19899931

Autistic disorder in Nigeria: profile and challenges to management.

PubMed

Lagunju, I A; Bella-Awusah, T T; Omigbodun, O O

2014-10-01

Autism represents one of the most common developmental disorders affecting children, but there are few reports on autism in African children. Our study describes the profile of autistic disorder in a cohort of Nigerian children and appraises short-term outcomes. Children seen at the pediatric neurology and the child psychiatry clinic of the University College Hospital, Nigeria were screened for autistic disorder using the American Psychiatric Association's Diagnostic and Statistical Manual IV. Forty-five males and 9 females were identified with autism, and the disease accounted for 2.3% of 2320 new cases seen during the period. The mean age at which parents observed deviations in behavior was 22.5 (SD=6.6) months, while the mean age at diagnosis was 44.7 (SD=21.2) months. Twelve (22.6%) children had a positive family history of autism, and forty (75.5%) had associated neurological comorbidities. Diagnosis of autism is often delayed in Nigeria, and affected children have a high frequency of neurological comorbidities. Copyright © 2014 Elsevier Inc. All rights reserved.

Cerebellar Plasticity and Motor Learning Deficits in a Copy Number Variation Mouse Model of Autism

PubMed Central

Piochon, Claire; Kloth, Alexander D; Grasselli, Giorgio; Titley, Heather K; Nakayama, Hisako; Hashimoto, Kouichi; Wan, Vivian; Simmons, Dana H; Eissa, Tahra; Nakatani, Jin; Cherskov, Adriana; Miyazaki, Taisuke; Watanabe, Masahiko; Takumi, Toru; Kano, Masanobu; Wang, Samuel S-H; Hansel, Christian

2014-01-01

A common feature of autism spectrum disorder (ASD) is the impairment of motor control and learning, occurring in a majority of children with autism, consistent with perturbation in cerebellar function. Here we report alterations in motor behavior and cerebellar synaptic plasticity in a mouse model (patDp/+) for the human 15q11-13 duplication, one of the most frequently observed genetic aberrations in autism. These mice show ASD-resembling social behavior deficits. We find that in patDp/+ mice delay eyeblink conditioning—a form of cerebellum-dependent motor learning—is impaired, and observe deregulation of a putative cellular mechanism for motor learning, long-term depression (LTD) at parallel fiber-Purkinje cell synapses. Moreover, developmental elimination of surplus climbing fibers—a model for activity-dependent synaptic pruning—is impaired. These findings point to deficits in synaptic plasticity and pruning as potential causes for motor problems and abnormal circuit development in autism. PMID:25418414

The development of young siblings of children with autism from 4 to 54 months.

PubMed

Gamliel, Ifat; Yirmiya, Nurit; Sigman, Marian

2007-01-01

Cognitive and language skills of 39 siblings of children with autism (SIBS-A) and 39 siblings of typically developing children (SIBS-TD) at ages 4, 14, 24, 36, and 54 months were compared. Twelve of the 39 SIBS-A revealed a delay in cognition and/or language (including one child diagnosed with autism) compared to only two SIBS-TD. Developmental trajectories revealed that the cognitive differences disappeared by age 54 months, but some differences in language ability remained. Thus, most SIBS-A were well-functioning, but some revealed cognitive and/or language difficulties during the preschool years. Even these siblings by and large caught up by the age of 54 months, with receptive and expressive language abilities remaining an area of difficulty for some earlier identified siblings.

New Evidence of Cerebellar and Brainstem Hypoplasia in Autistic Infants, Children and Adolescents: The MR Imaging Study by Hashimoto and Colleagues.

ERIC Educational Resources Information Center

Courchesne, Eric

1995-01-01

In a study by Toshiaki Hashimoto and colleagues (EC 611 142), 10 infants with developmental delay, poor eye contact, and poor facial expression underwent magnetic resonance brain imaging and were later diagnosed with autism. This offered direct evidence of abnormality of the cerebellar vermis and the brainstem at the beginning stages of behavioral…

Development of a Website for Educators Addressing How to Understand, Recognize, and Respond to Student Self-Injury

ERIC Educational Resources Information Center

Dorko, Laura A.

2010-01-01

Self-injury (SI) is defined as the act of deliberately destroying one's own body tissue without suicidal intent in a way that is not widely socially acceptable and is not as a result of mental retardation, autism, or other developmental delays. The review of the self-injury literature focused on the definition, prevalence, and other basic aspects…

The Use of Video Modeling with the Picture Exchange Communication System to Increase Independent Communicative Initiations in Preschoolers with Autism and Developmental Delays

ERIC Educational Resources Information Center

Cihak, David F.; Smith, Catherine C.; Cornett, Ashlee; Coleman, Mari Beth

2012-01-01

The use of video modeling (VM) procedures in conjunction with the picture exchange communication system (PECS) to increase independent communicative initiations in preschool-age students was evaluated in this study. The four participants were 3-year-old children with limited communication skills prior to the intervention. Two of the students had…

The early development of stereotypy and self-injury: a review of research methods.

PubMed

Symons, F J; Sperry, L A; Dropik, P L; Bodfish, J W

2005-02-01

The origin and developmental course of stereotypic and self-injurious behaviour among individuals with developmental disabilities such as intellectual disability (ID) or pervasive development disorders such as autism is not well understood. Twelve studies designed to document the prevalence, nature, or development of stereotypic and/or self-injurious behaviour in children under 5 years of age and identified as at risk for developmental delay or disability were reviewed. Comparisons were made with similar studies with typically developing children. It appears that the onset of naturally occurring rhythmic motor stereotypies is delayed in young at-risk children, but that the sequencing may be similar. A very small database, differences in samples, measures, and designs limited the degree to which comparisons could be made across studies. Future work is needed based on appropriately designed prospective comparison studies and uniform quantitative measures to provide an empirical basis for new knowledge about the early development of one of the most serious behaviour disorders afflicting children with ID and related problems of development.

Original Article: Preeclampsia, Placental Insufficiency and Autism Spectrum Disorder or Developmental Delay

PubMed Central

Walker, Cheryl K.; Krakowiak, Paula; Baker, Alice; Hansen, Robin L.; Ozonoff, Sally; Hertz-Picciotto, Irva

2014-01-01

Importance Increasing evidence suggests that autism spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal development. Preeclampsia may trigger aberrant neurodevelopment through placental, maternal and fetal physiologic mechanisms. Objective To determine whether preeclampsia is associated with ASD and/or DD. Design, Setting and Participants The CHildhhood Autism Risks from Genetics and the Environment (CHARGE) Study is a population-based case-control investigation of ASD and/or DD origins. Children from 20 California counties aged 24-60 months at the time of recruitment, and living in catchment areas with a biologic parent fluent in English or Spanish were enrolled from January 29, 2003 through April 7, 2011. Children with ASD (n=517) and DD (n=194) were recruited through the California Department of Developmental Services, the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute and referrals. Controls with typical development (TD) controls (n=350) were randomly selected from birth records and frequency-matched on age, sex, and broad geographic region. Physicians diagnosing preeclampsia were masked to neurodevelopmental outcome, and those assessing neurodevelopmental function were masked to preeclampsia status. Exposure Preeclampsia and placental insufficiency were self-reported and abstracted from medical records. Main Outcome Measure The Autism Diagnostic Observation Schedule and Autism Diagnostic Interview–Revised were used to confirm ASD, whereas children with DD and TD were confirmed by Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales and were free of autistic symptoms. Hypotheses were formulated before data collection. Results Children with ASD were twice as likely to have been exposed in utero to preeclampsia as controls with TD after adjustment for maternal educational level, parity, and prepregnancy obesity (adjusted odds ratio, 2.36; 95% CI, 1.18-4.68); risk increased with greater preeclampsia severity (test for trend p=0.02). Placental insufficiency appeared responsible for the increase in DD risk associated with severe preeclampsia (adjusted odds ratio, 5.49; 95% CI, 2.06-14.64). Conclusions and Relevance Preeclampsia, particularly severe disease, is associated with ASD and DD. Faulty placentation manifests in the mother as preeclampsia with vascular damage, enhanced systemic inflammation and insulin resistance; in the placenta as oxygen and nutrient transfer restriction and oxidative stress; and in the fetus as growth restriction and progressive hypoxemia. All are potential mechanisms for neurodevelopmental compromise. PMID:25485869

Birth weight and gestational age characteristics of children with autism, including a comparison with other developmental disabilities.

PubMed

Schendel, Diana; Bhasin, Tanya Karapurkar

2008-06-01

The objectives of this study were to compare the birth weight and gestational age distributions and prevalence rates of autism with those of other developmental disabilities and to estimate the birth weight-and gestational age-specific risks for autism. For the first objective, a retrospective cohort of children born in Atlanta, Georgia, in 1981-1993 who survived to 3 years of age was identified through vital records. Children in the cohort who had developmental disabilities (autism, mental retardation, cerebral palsy, hearing loss, or vision impairment) and were still residing in metropolitan Atlanta at 3 to 10 years of age were identified through the Metropolitan Atlanta Developmental Disabilities Surveillance Program. A nested case-control sample from the cohort was used for the second objective; all cohort children identified with autism were case participants, and control participants were cohort children who were not identified as having developmental disabilities or receiving special education services. The prevalence of autism in low birth weight or preterm children was markedly lower than those of other developmental disabilities. In multivariate analyses, birth weight of <2500 g and preterm birth at <33 weeks' gestation were associated with an approximately twofold increased risk for autism, although the magnitude of risk from these factors varied according to gender (higher in girls) and autism subgroup (higher for autism accompanied by other developmental disabilities). For example, a significant fourfold increased risk was observed in low birth weight girls for autism accompanied by mental retardation, whereas there was no significantly increased risk observed in low birth weight boys for autism alone. Gender and autism subgroup differences in birth weight and gestational age, resulting in lower gender ratios with declining birth weight or gestational age across all autism subgroups, might be markers for etiologic heterogeneity in autism.

Syndrome specificity and mother-child interactions: Examining positive and negative parenting across contexts and time

PubMed Central

Blacher, Jan; Baker, Bruce L.; Kaladjian, Araksia

2012-01-01

This study examined the extent to which child syndromes and observation context related to mothers’ parenting behaviors. Longitudinal observations were conducted of parenting behavior across ages 3, 4, and 5 years during structured and unstructured activities. The 183 participants included mothers of children with autism spectrum disorders, cerebral palsy, Down syndrome, undifferentiated developmental delay, or typical cognitive development. Negative parenting behaviors were higher in structured activities and higher in mothers of children in all developmentally delayed groups. Positive parenting was higher in unstructured activities and especially high for mothers of children with Down syndrome. Despite differences found through direct observation of parenting children in different diagnostic groups, they are not as strong as syndrome-group differences found through more commonly used self-report questionnaires assessing domains like parenting stress. PMID:22829243

The Role of Developmental Histories in the Screening and Diagnosis of Autism Spectrum Disorders.

ERIC Educational Resources Information Center

Plotts, Cindy; Webber, Jo

2002-01-01

This article discusses the importance of obtaining developmental history in the screening and diagnosis of autism spectrum disorders in children. Steps for obtaining developmental history are described and general guidelines are provided. Instruments for collecting developmental history and diagnostic indicators for autism spectrum disorders are…

Emotions and voluntary action: what link in children with autism?

PubMed

Vernazza-Martin, S; Longuet, S; Chamot, J M; Orève, M J

2013-08-15

This research focuses on the impact of emotions--defined as "motivational states"--on the organization of goal directed locomotion in children with autism. Walking toward a goal involves both cognitive processes responsible for movement planning and automatic processes linked to movement programming. To these processes, motivation leading to achieving the goal is added. For some authors, a deficit of planning and/or programming processes is highlighted in autism. Others stand for some impairment of the emotional system. The aim of this research is to link these two viewpoints and to determine if, in children with autism, the organization of locomotion is affected by a positive/aversive emotion conferred to an object to fetch. Twenty-nine children participated in the study (11 children with autism--mean age 122 months; 9 mental age-matched controls--mean age 36 months; and 9 chronological age-matched controls--mean age 122 months). They were instructed to go and get a positive or aversive emotional valence object located straight ahead, at 30° to the right or straight ahead then moved at mid-distance to the right. Gait analysis was performed using the Vicon system. The main results suggest that a positive emotional context promotes the cognitive processes involved in movement planning while an aversive emotional context blocks it or disturbs it in children with autism. No emotions effect is observed on movement programming. It is suggested that emotions triggered off and modulated movement planning and that the deficit observed was related to a developmental impairment rather than to a developmental delay. Copyright © 2013 Elsevier B.V. All rights reserved.

Imitation from 12 to 24 months in autism and typical development: A longitudinal Rasch analysis

PubMed Central

Young, Gregory S.; Rogers, Sally J.; Hutman, Ted; Rozga, Agata; Sigman, Marian; Ozonoff, Sally

2013-01-01

The development of imitation during the second year of life plays an important role in domains of socio-cognitive development such as language and social learning. Deficits in imitation ability in persons with autism spectrum disorder (ASD) have also been repeatedly documented from toddlerhood into adulthood, raising the possibility that early disruptions in imitation contribute to the onset of ASD and the deficits in language and social interaction that define the disorder. This study prospectively examined the development of imitation between 12 and 24 months of age in 154 infants at familial risk for ASD and 78 typically developing infants who were all later assessed at 36 months for ASD or other developmental delays. The study established a developmental measure of imitation ability, and examined group differences over time, using an analytic Rasch measurement model. Results revealed a unidimensional latent construct of imitation and verified a reliable sequence of imitation skills that was invariant over time for all outcome groups. Results also showed that all groups displayed similar significant linear increases in imitation ability between 12 and 24 months and that these increases were related to individual growth in both expressive language and ratings of social engagement, but not fine motor development. The group of children who developed ASD by age 3 years exhibited delayed imitation development compared to the low-risk typical outcome group across all time-points, but were indistinguishable from other high-risk infants who showed other cognitive delays not related to ASD. PMID:21910524

Developmental regression and autism reported to the Vaccine Adverse Event Reporting System.

PubMed

Woo, Emily Jane; Ball, Robert; Landa, Rebecca; Zimmerman, Andrew W; Braun, M Miles

2007-07-01

We report demographic and clinical characteristics of children reported to the US Vaccine Adverse Event Reporting System (VAERS) as having autism or another developmental disorder after vaccination. We completed 124 interviews with parents and reviewed medical records for 31 children whose records contained sufficient information to evaluate the child's developmental history. Medical record review indicated that 27 of 31 (87%) children had autism/ASD and 19 (61.3%) had evidence of developmental regression (loss of social, language, or motor skills). The proportion of VAERS cases of autism with regression was greater than that reported in population-based studies, based on the subset of VAERS cases with medical record confirmation. This difference may reflect preferential reporting to VAERS of autism with regression. In other respects, the children in this study appear to be similar to other children with autism. Further research might determine whether the pathogenesis of autism with developmental regression differs from that of autism without regression.

Screening for attention deficit and hyperactivity disorder, autism spectrum disorder, and developmental delay in Taiwanese aboriginal preschool children

PubMed Central

Chan, Hsiang-Lin; Liu, Wen-Sheng; Hsieh, Yi-Hsuan; Lin, Chiao-Fan; Ling, Tiing-Soon; Huang, Yu-Shu

2016-01-01

Objectives This study aimed to estimate the percentages of attention deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in Taiwanese aboriginal preschool children. Child development level was compared between the two groups. Methods Teachers completed screening questionnaires for ADHD, ASD, and development level for 36- to 72-month-old children in kindergartens in Taiwan. The questionnaire results were compared between the aboriginal and nonaboriginal children. One child psychiatrist then interviewed the aboriginal preschool children to determine if they had ADHD and/or ASD. Results We collected 93 questionnaires from the aboriginal group and 60 from the nonaboriginal group. In the aboriginal group, 5.37% of the children were identified to have ADHD, while 1.08% were identified to have ASD. Significantly fewer aboriginal children had developmental delays for situation comprehension and personal–social development (P=0.012 and 0.002, respectively) than nonaboriginal children. Conclusion Aboriginal children in Taiwan had typical percentages of ADHD and ASD compared to those published in the literature. Aboriginal children showed relative strengths in situation comprehension and personal–social skills. Further studies are required to understand the learning styles of the aboriginal children and to develop effective screening and intervention strategies for ADHD and ASD. PMID:27785028

Vocalization of Emotional and Social Expressions in Korean-Speaking Toddlers with Autism Spectrum Disorder and Those with Developmental Delay.

PubMed

Lee, Kyung Sook; Shin, Yee Jin; Yoo, Hee Jeong; Lee, Gui Jong; Ryu, Jeong; Son, Oweol; Cho, Sook Whan

2018-05-01

This study aimed to examine the development of socializing and emotional expressions through vocalizations and joint attention (JA) behaviors in Korean-speaking children with autism spectrum disorder (ASD), compared to those with developmental delay (DD). Video samples were collected from 28 toddlers with ASD and 18 age-matched toddlers with DD, and vocalizations were each coded in detail for the purpose of this retrospective research. In addition to some statistical analysis, Computerized Language Analysis was conducted to obtain the final results. Although they produced a higher number of vocalizations than the DD group, the ASD group did not engage in emotional or social interactions with their caretakers, whereas the DD group did. The children with ASD used more atypical vocalizations and socially unengaged vocalizations than the children with DD did. JA using vocalizations in the ASD group, in particular, was largely dyadic, with triadic types occurring at a significantly lower frequency than those in the DD group. Results from this study indicate the importance of assessing early vocalizations in toddlers with ASD, suggesting that some common symptoms of ASD, such as lack of typical, emotional, and social functions in early vocalizations, could be used to develop screening and intervention programs related to ASD. © Copyright: Yonsei University College of Medicine 2018.

Detection of atypical network development patterns in children with autism spectrum disorder using magnetoencephalography

PubMed Central

Watanabe, Katsumi; Yoshimura, Yuko; Kikuchi, Mitsuru; Minabe, Yoshio; Aihara, Kazuyuki

2017-01-01

Autism spectrum disorder (ASD) is a developmental disorder that involves developmental delays. It has been hypothesized that aberrant neural connectivity in ASD may cause atypical brain network development. Brain graphs not only describe the differences in brain networks between clinical and control groups, but also provide information about network development within each group. In the present study, graph indices of brain networks were estimated in children with ASD and in typically developing (TD) children using magnetoencephalography performed while the children viewed a cartoon video. We examined brain graphs from a developmental point of view, and compared the networks between children with ASD and TD children. Network development patterns (NDPs) were assessed by examining the association between the graph indices and the raw scores on the achievement scale or the age of the children. The ASD and TD groups exhibited different NDPs at both network and nodal levels. In the left frontal areas, the nodal degree and efficiency of the ASD group were negatively correlated with the achievement scores. Reduced network connections were observed in the temporal and posterior areas of TD children. These results suggested that the atypical network developmental trajectory in children with ASD is associated with the development score rather than age. PMID:28886147

Visualizing the Comorbidity Burden in Children with Autism Spectrum Disorder Receiving Dental Treatment Under General Anesthesia.

PubMed

Mathu-Muju, Kavita R; Li, Hsin-Fang; Nam, Lisa H; Bush, Heather M

2016-01-01

The purposes of this study were to: (1) describe the comorbidity burden in children with autism spectrum disorder (ASD) receiving dental treatment under general anesthesia (GA); and (2) characterize the complexity of these concurrent comorbidities. A retrospective chart review was completed of 303 children with ASD who received dental treatment under GA. All comorbidities, in addition to the primary diagnosis of ASD, were categorized using the International Classification of Diseases-10 codes. The interconnectedness of the comorbidities was graphically displayed using a network plot. Network indices (degree centrality, betweenness centrality, closeness centrality) were used to characterize the comorbidities that exhibited the highest connectedness to ASD. The network plot of medical diagnoses for children with ASD was highly complex, with multiple connected comorbidities. Developmental delay, speech delay, intellectual disability, and seizure disorders exhibited the highest connectedness to ASD. Children with autism spectrum disorder may have a significant comorbidity burden of closely related neurodevelopmental disorders. The medical history review should assess the severity of these concurrent disorders to evaluate a patient's potential ability to cooperate for dental treatment and to determine appropriate behavior guidance techniques to facilitate the delivery of dental care.

Naturalistic Developmental Behavioral Interventions: Empirically Validated Treatments for Autism Spectrum Disorder

ERIC Educational Resources Information Center

Schreibman, Laura; Dawson, Geraldine; Stahmer, Aubyn C.; Landa, Rebecca; Rogers, Sally J.; McGee, Gail G.; Kasari, Connie; Ingersoll, Brooke; Kaiser, Ann P.; Bruinsma, Yvonne; McNerney, Erin; Wetherby, Amy; Halladay, Alycia

2015-01-01

Earlier autism diagnosis, the importance of early intervention, and development of specific interventions for young children have contributed to the emergence of similar, empirically supported, autism interventions that represent the merging of applied behavioral and developmental sciences. "Naturalistic Developmental Behavioral Interventions…

Ethnicity Reporting Practices for Empirical Research in Three Autism-Related Journals

ERIC Educational Resources Information Center

Pierce, Nigel P.; O'Reilly, Mark F.; Sorrells, Audrey M.; Fragale, Christina L.; White, Pamela J.; Aguilar, Jeannie M.; Cole, Heather A.

2014-01-01

This review examines ethnicity reporting in three autism-related journals ("Autism," "Focus on Autism and Other Developmental Disabilities," and "Journal of Autism and Developmental Disorders") over a 6-year period. A comprehensive multistep search of articles is used to identify ethnicity as a demographic variable in…

Withdrawal Study of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified Previously Treated With Memantine

ClinicalTrials.gov

2013-10-31

Autism Spectrum Disorder (ASD); Autism; Autistic Disorder; Asperger's Disorder; Asperger's; Pediatric Autism; Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS); Pervasive Child Development Disorder

Best Practices for Practitioners in Autism, Intellectual Disability, and Developmental Disabilities

ERIC Educational Resources Information Center

Zucker, Stanley H.; Perras, Cindy; Perner, Darlene E.; Murdick, Nikki

2013-01-01

On January 23-25, 2013, the Council for Exceptional Children Division on Autism and Developmental Disabilities (DADD) sponsored its Fourteenth International Conference: Research to Practice in Autism, Intellectual Disability and Developmental Disabilities. The conference was held at the Sheraton Kona Resort at Keauhou Bay, Hawaii. The DADD Board…

Author Productivity and Publication Trends in Autism-Specific Journals from 1997 to 2004

ERIC Educational Resources Information Center

de la Cruz, Berenice; Cannella-Malone, Helen I.; Edrisinha, Chaturi; Sigafoos, Jeff; Robinson, Dan; Son, Seung-Hyun

2006-01-01

The 20 most productive authors (in terms of number of articles authored) were identified across three major autism-specific journals ("Autism: An International Journal of Research and Practice, Focus on Autism and Other Developmental Disabilities," and the "Journal of Autism and Developmental Disorders") published between 1997…

The German version of the Child Behavior Checklist 1.5-5 to identify children with a risk of autism spectrum disorder.

PubMed

Limberg, Katharina; Gruber, Karolin; Noterdaeme, Michele

2017-04-01

A long delay between the first registered symptoms of autism spectrum disorder and a final diagnosis has been reported. The reasons for this are the spare use of specialized autism instruments, missing clinical expertise, and the late referral to specialized centers in primary care. Previous studies recommending the Child Behavior Checklist 1.5-5 for screening have requested additional research. A total of 183 children aged 25-71 months participated in this study. The Child Behavior Checklist scales of 80 children with autism spectrum disorder were compared with 103 children diagnosed with other psychiatric disorders. In the logistic regression analysis, the Withdrawn and Pervasive Developmental Problems Child Behavior Checklist scales with a significant predictive value of risk for an autism spectrum disorder diagnosis were identified. The optimal cutoff points T = 64.5 on the Pervasive Developmental Problems scale (area under the curve = 0.781, sensitivity = 0.83, specificity = 0.60, positive predictive value = 0.62, negative predictive value = 0.82, odds ratio = 7) and T = 60.5 on the Withdrawn scale (area under the curve = 0.809, sensitivity = 0.88, specificity = 0.63, positive predictive value = 0.65, negative predictive value = 0.87, odds ratio = 12) were evaluated in the receiver operating characteristics analysis. The present study confirms the utility of the German version of the Child Behavior Checklist 1.5-5 as a level 1 screening tool to identify children with a risk of autism spectrum disorder; however, a risk of over-identifying should be considered. The Child Behavior Checklist 1.5-5 can complement the pediatric examination as a quick and cost-effective questionnaire.

Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels.

PubMed

Carvalho Pereira, Andreia; Violante, Inês R; Mouga, Susana; Oliveira, Guiomar; Castelo-Branco, Miguel

2018-05-01

The nature of neurochemical changes in autism spectrum disorder (ASD) remains controversial. We compared medial prefrontal cortex (mPFC) neurochemistry of twenty high-functioning children and adolescents with ASD without associated comorbidities and fourteen controls. We observed reduced total N-acetylaspartate (tNAA) and total creatine, increased Glx/tNAA but unchanged glutamate + glutamine (Glx) and unchanged absolute or relative gamma-aminobutyric acid (GABA+) in the ASD group. Importantly, both smaller absolute and relative GABA+ levels were associated with worse communication skills and developmental delay scores assessed by the autism diagnostic interview-revised (ADI-R). We conclude that tNAA is reduced in the mPFC in ASD and that glutamatergic metabolism may be altered due to unbalanced Glx/tNAA. Moreover, GABA+ is related to autistic symptoms assessed by the ADI-R.

Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study123

PubMed Central

Schmidt, Rebecca J; Tancredi, Daniel J; Ozonoff, Sally; Hansen, Robin L; Hartiala, Jaana; Allayee, Hooman; Schmidt, Linda C; Tassone, Flora; Hertz-Picciotto, Irva

2012-01-01

Background: Periconceptional folate is essential for proper neurodevelopment. Objective: Maternal folic acid intake was examined in relation to the risk of autism spectrum disorder (ASD) and developmental delay (DD). Design: Families enrolled in the CHARGE (CHildhood Autism Risks from Genetics and Environment) Study from 2003 to 2009 were included if their child had a diagnosis of ASD (n = 429), DD (n = 130), or typical development (TD; n = 278) confirmed at the University of California Davis Medical Investigation of Neurodevelopmental Disorders Institute by using standardized clinical assessments. Average daily folic acid was quantified for each mother on the basis of dose, brands, and intake frequency of vitamins, supplements, and breakfast cereals reported through structured telephone interviews. Results: Mean (±SEM) folic acid intake was significantly greater for mothers of TD children than for mothers of children with ASD in the first month of pregnancy (P1; 779.0 ± 36.1 and 655.0 ± 28.7 μg, respectively; P < 0.01). A mean daily folic acid intake of ≥600 μg (compared with <600 μg) during P1 was associated with reduced ASD risk (adjusted OR: 0.62; 95% CI: 0.42, 0.92; P = 0.02), and risk estimates decreased with increased folic acid (P-trend = 0.001). The association between folic acid and reduced ASD risk was strongest for mothers and children with MTHFR 677 C>T variant genotypes. A trend toward an association between lower maternal folic acid intake during the 3 mo before pregnancy and DD was observed, but not after adjustment for confounders. Conclusions: Periconceptional folic acid may reduce ASD risk in those with inefficient folate metabolism. The replication of these findings and investigations of mechanisms involved are warranted. PMID:22648721

Automated Vocal Analysis of Children with Hearing Loss and Their Typical and Atypical Peers

PubMed Central

VanDam, Mark; Oller, D. Kimbrough; Ambrose, Sophie E.; Gray, Sharmistha; Richards, Jeffrey A.; Xu, Dongxin; Gilkerson, Jill; Silbert, Noah H.; Moeller, Mary Pat

2014-01-01

Objectives This study investigated automatic assessment of vocal development in children with hearing loss as compared with children who are typically developing, have language delays, and autism spectrum disorder. Statistical models are examined for performance in a classification model and to predict age within the four groups of children. Design The vocal analysis system analyzed over 1900 whole-day, naturalistic acoustic recordings from 273 toddlers and preschoolers comprising children who were typically developing, hard of hearing, language delayed, or autistic. Results Samples from children who were hard-of-hearing patterned more similarly to those of typically-developing children than to the language-delayed or autistic samples. The statistical models were able to classify children from the four groups examined and estimate developmental age based on automated vocal analysis. Conclusions This work shows a broad similarity between children with hearing loss and typically developing children, although children with hearing loss show some delay in their production of speech. Automatic acoustic analysis can now be used to quantitatively compare vocal development in children with and without speech-related disorders. The work may serve to better distinguish among various developmental disorders and ultimately contribute to improved intervention. PMID:25587667

A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.

PubMed

Wentz, Elisabet; Vujic, Mihailo; Kärrstedt, Ewa-Lotta; Erlandsson, Anna; Gillberg, Christopher

2014-05-01

Autism spectrum disorder, severe behaviour problems and duplication of the Xq12 to Xq13 region have recently been described in three male relatives. To describe the psychiatric comorbidity and dysmorphic features, including craniosynostosis, of two male siblings with autism and duplication of the Xq13 to Xq21 region, and attempt to narrow down the number of duplicated genes proposed to be leading to global developmental delay and autism. We performed DNA sequencing of certain exons of the TWIST1 gene, the FGFR2 gene and the FGFR3 gene. We also performed microarray analysis of the DNA. In addition to autism, the two male siblings exhibited severe learning disability, self-injurious behaviour, temper tantrums and hyperactivity, and had no communicative language. Chromosomal analyses were normal. Neither of the two siblings showed mutations of the sequenced exons known to produce craniosynostosis. The microarray analysis detected an extra copy of a region on the long arm of chromosome X, chromosome band Xq13.1-q21.1. Comparison of our two cases with previously described patients allowed us to identify three genes predisposing for autism in the duplicated chromosomal region. Sagittal craniosynostosis is also a new finding linked to the duplication.

Parental Stress in Families of Children With Autism and Other Developmental Disabilities.

PubMed

Valicenti-McDermott, Maria; Lawson, Katharine; Hottinger, Kathryn; Seijo, Rosa; Schechtman, Merryl; Shulman, Lisa; Shinnar, Shlomo

2015-11-01

The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included Parenting Stress Index-Short Form, Gastrointestinal Questionnaire, Child Sleep Habits Questionnaire, and Aberrant Behavior Checklist. In this ethnically diverse sample, parental stress was significantly higher for the autism group and for non-Hispanic and US-born mothers. In both study groups, parental stress was related to child irritability. Parental stress was also related to gastrointestinal problems in the autism group and to sleep difficulties in the developmental disabilities group. Targeting child irritability may be particularly important in reducing parental stress for families of children with autism and other developmental disabilities. © The Author(s) 2015.

Employing Handwriting without Tears® to Teach a 4-Year-Old Preschool Student to Write His Name with the Appropriate Size, Shape, and Form Combined with an Imitate/Trace/Copy/Memory Procedure

ERIC Educational Resources Information Center

Steele, Emalia C.; McLaughlin, Thomas; Derby, K. Mark; Weber, Kimberly P.; Donica, Denise K.; McKenzie, Michelle

2015-01-01

The main purpose of this study was to evaluate the effectiveness of the prewriting and handwriting curriculum Handwriting Without Tears® (HWT) in a preschool setting with a single student who has developmental delays and a suspected Autism Spectrum Disorder (ASD) diagnosis. Data were collected during the regular preschool day. The behavior…

Brief report: life history and neuropathology of a gifted man with Asperger syndrome.

PubMed

Weidenheim, Karen M; Escobar, Alfonso; Rapin, Isabelle

2012-03-01

Despite recent interest in the pathogenesis of the autism spectrum disorders (pervasive developmental disorders), neuropathological descriptions of brains of individuals with well documented clinical information and without potentially confounding symptomatology are exceptionally rare. Asperger syndrome differs from classic autism by lack of cognitive impairment or delay in expressive language acquisition. We examined the 1,570 g brain of a 63 year old otherwise healthy mathematician with an Autistic Spectrum Disorder of Asperger subtype. Except for an atypical gyral pattern and megalencephaly, we detected no specific neuropathologic abnormality. Taken together, the behavioral data and pathological findings in this case are compatible with an early neurodevelopmental process affecting multiple neuroanatomic networks, but without a convincing morphologic signature detectable with routine neuropathologic technology.

An exploratory analysis of task-interspersal procedures while teaching object labels to children with autism.

PubMed

Volkert, Valerie M; Lerman, Dorothea C; Trosclair, Nicole; Addison, Laura; Kodak, Tiffany

2008-01-01

Research has demonstrated that interspersing mastered tasks with new tasks facilitates learning under certain conditions; however, little is known about factors that influence the effectiveness of this treatment strategy. The initial purpose of the current investigation was to evaluate the effects of similar versus dissimilar interspersed tasks while teaching object labels to children diagnosed with autism or developmental delays. We then conducted a series of exploratory analyses involving the type of reinforcer delivered for correct responses on trials with unknown or known object labels. Performance was enhanced under the interspersal condition only when either brief praise was delivered for all correct responses or presumably more preferred reinforcers were provided for performance on known trials rather than on unknown trials.

Delineation of a spatial working memory profile using a non-verbal eye-tracking paradigm in young children with autism and Williams syndrome.

PubMed

Fanning, Peter A J; Hocking, Darren R; Dissanayake, Cheryl; Vivanti, Giacomo

2018-05-01

Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands. To address these issues, a novel eye-tracking paradigm was designed based on an adaptation of the classic A not B paradigm in order to examine the early foundations of spatial working memory capabilities in 26 developmentally delayed preschool children with ASD, 18 age- and IQ-matched children with WS, and 19 age-matched typically-developing (TD) children. The results revealed evidence that foundational spatial working memory performance in ASD and WS was comparable with that of TD children. Performance was associated with intellectual ability in the ASD and TD groups, but not in the WS group. Performance was not associated with adaptive behavior in any group. These findings are discussed in the context of previous research that has been largely limited to older and substantially less developmentally delayed children with these neurodevelopmental disorders.

Autism Spectrum Disorder and Young Children. AECA Research in Practice Series.

ERIC Educational Resources Information Center

Roe, Diana

This booklet provides an overview of the characteristics and needs of young children with autism spectrum disorders or pervasive developmental disorders. It addresses: (1) different disabilities under the classification of autism spectrum disorders or pervasive developmental disorders; (2) characteristics of autism; (3) characteristics of children…

Phthalate concentrations in house dust in relation to autism spectrum disorder and developmental delay in the CHildhood Autism Risks from Genetics and the Environment (CHARGE) study.

PubMed

Philippat, Claire; Bennett, Deborah H; Krakowiak, Paula; Rose, Melissa; Hwang, Hyun-Min; Hertz-Picciotto, Irva

2015-06-26

Phthalates are endocrine-disrupting chemicals that influence thyroid hormones and sex steroids, both critical for brain development. We studied phthalate concentrations in house dust in relation to the risks of developing autism spectrum disorder (ASD) or developmental delay (DD). Participants were a subset of children from the CHARGE (CHildhood Autism Risks from Genetics and the Environment) case-control study. ASD and DD cases were identified through the California Department of Developmental Services system or referrals; general population controls were randomly sampled from state birth files and frequency-matched on age, sex, and broad geographic region to ASD cases. All children (50 ASD, 27 DD, 68 typically developing (TD)) were assessed with Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales (VABS) and Aberrant Behavior Checklist. We measured 5 phthalates in dust collected in the child's home using a high volume small surface sampler. None of the phthalates measured in dust was associated with ASD. After adjustment, we observed greater di(2-ethylhexyl) phthalate (DEHP) and butylbenzyl phthalate (BBzP) concentrations in indoor dust from homes of DD children: Odds ratios (OR) were 2.10 (95% confidence interval (CI); 1.10; 4.09) and 1.40 (95% CI; 0.97; 2.04) for a one-unit increase in the ln-transformed DEHP and BBzP concentrations, respectively. Among TD children, VABS communication, daily living, and adaptive composite standard scores were lower, in association with increased diethyl phthalate (DEP) concentrations in dust. Participants with higher dibutyl phthalate (DBP) concentrations in house dust also trended toward reduced performance on these subscales. Among ASD and DD boys, higher indoor dust concentrations of DEP and DBP were associated with greater hyperactivity-impulsivity and inattention. House dust levels of phthalates were not associated with ASD. The inability to distinguish past from recent exposures in house dust and the fact that house dust does not capture exposure from all sources, limit the interpretation of both positive and null findings and further work is needed. However, the associations observed for DEP and DBP with impairments in several adaptive functions and greater hyperactivity, along with evidence for increased risk of DD raise concerns that these chemicals may affect neurodevelopment in children.

Children with developmental and behavioural concerns in Singapore.

PubMed

Lian, Wee Bin; Ho, Selina Kah Ying; Choo, Sylvia Hean Tean; Shah, Varsha Atul; Chan, Daisy Kwai Lin; Yeo, Cheo Lian; Ho, Lai Yun

2012-07-01

Childhood developmental and behavioural disorders (CDABD) have been increasingly recognised in recent years. This study evaluated the profiles and outcomes of children referred for developmental and behavioural concerns to a tertiary child developmental centre in Singapore. This is the first such regional database. Baseline information, obtained through a questionnaire, together with history at first consultation, provided information for referral, demographic and presentation profiles. Clinical formulations were then made. Definitive developmental and medical diagnoses, as well as outcomes based on clinical assessment and standardised testing, were recorded at one year post first consultation. Out of 1,304 referrals between January 1, 2003 and December 1, 2004, 45% were 2-4 years old and 74% were boys. The waiting time from referral to first consultation exceeded four months in 52% of children. Following clinical evaluation, 7% were found to be developmentally appropriate. The single most common presenting concern was speech and language (S&L) delay (29%). The most common clinical developmental diagnosis was autism spectrum disorder (ASD) (30%), followed by isolated S&L disorder, global developmental delay (GDD) and cognitive impairment (CI). Recommendations included S&L therapy (57%), occupational therapy (50%) and psychological/behavioural services (40%). At one year, ASD remained the most common definitive developmental diagnosis (31%), followed by S&L disorder, CI and GDD. Most were children with high-prevalence, low-moderate severity disorders who could potentially achieve fair-good prognosis with early intervention. Better appreciation of the profile and outcome of children with CDABD in Singapore could enable better resource planning for diagnosis and intervention.

Sera from Children with Autism Induce Autistic Features Which Can Be Rescued with a CNTF Small Peptide Mimetic in Rats

PubMed Central

Kazim, Syed Faraz; Cardenas-Aguayo, Maria del Carmen; Arif, Mohammad; Blanchard, Julie; Fayyaz, Fatima; Grundke-Iqbal, Inge; Iqbal, Khalid

2015-01-01

Autism is a neurodevelopmental disorder characterized clinically by impairments in social interaction and verbal and non-verbal communication skills as well as restricted interests and repetitive behavior. It has been hypothesized that altered brain environment including an imbalance in neurotrophic support during early development contributes to the pathophysiology of autism. Here we report that sera from children with autism which exhibited abnormal levels of various neurotrophic factors induced cell death and oxidative stress in mouse primary cultured cortical neurons. The effects of sera from autistic children were rescued by pre-treatment with a ciliary neurotrophic factor (CNTF) small peptide mimetic, Peptide 6 (P6), which was previously shown to exert its neuroprotective effect by modulating CNTF/JAK/STAT pathway and LIF signaling and by enhancing brain derived neurotrophic factor (BDNF) expression. Similar neurotoxic effects and neuroinflammation were observed in young Wistar rats injected intracerebroventricularly with autism sera within hours after birth. The autism sera injected rats demonstrated developmental delay and deficits in social communication, interaction, and novelty. Both the neurobiological changes and the behavioral autistic phenotype were ameliorated by P6 treatment. These findings implicate the involvement of neurotrophic imbalance during early brain development in the pathophysiology of autism and a proof of principle of P6 as a potential therapeutic strategy for autism. PMID:25769033

Sera from children with autism induce autistic features which can be rescued with a CNTF small peptide mimetic in rats.

PubMed

Kazim, Syed Faraz; Cardenas-Aguayo, Maria Del Carmen; Arif, Mohammad; Blanchard, Julie; Fayyaz, Fatima; Grundke-Iqbal, Inge; Iqbal, Khalid

2015-01-01

Autism is a neurodevelopmental disorder characterized clinically by impairments in social interaction and verbal and non-verbal communication skills as well as restricted interests and repetitive behavior. It has been hypothesized that altered brain environment including an imbalance in neurotrophic support during early development contributes to the pathophysiology of autism. Here we report that sera from children with autism which exhibited abnormal levels of various neurotrophic factors induced cell death and oxidative stress in mouse primary cultured cortical neurons. The effects of sera from autistic children were rescued by pre-treatment with a ciliary neurotrophic factor (CNTF) small peptide mimetic, Peptide 6 (P6), which was previously shown to exert its neuroprotective effect by modulating CNTF/JAK/STAT pathway and LIF signaling and by enhancing brain derived neurotrophic factor (BDNF) expression. Similar neurotoxic effects and neuroinflammation were observed in young Wistar rats injected intracerebroventricularly with autism sera within hours after birth. The autism sera injected rats demonstrated developmental delay and deficits in social communication, interaction, and novelty. Both the neurobiological changes and the behavioral autistic phenotype were ameliorated by P6 treatment. These findings implicate the involvement of neurotrophic imbalance during early brain development in the pathophysiology of autism and a proof of principle of P6 as a potential therapeutic strategy for autism.

Health Care of Latino Children with Autism and Other Developmental Disabilities: Quality of Provider Interaction Mediates Utilization

ERIC Educational Resources Information Center

Parish, Susan; Magana, Sandra; Rose, Roderick; Timberlake, Maria; Swaine, Jamie G.

2012-01-01

This study examines access to, utilization of, and quality of health care for Latino children with autism and other developmental disabilities. We analyze data from the National Survey of Children with Special Health Care Needs (N = 4,414 children with autism and other developmental disabilities). Compared with White children, Latino children with…

Deferred and immediate imitation in regressive and early onset autism

PubMed Central

Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

2010-01-01

Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language, and symbolic play. However, few studies have examined deferred imitation in early autism. The present study examined both deferred, spontaneous imitation and immediate, elicited imitation on a set of carefully matched tasks in 36 young children with autism: 16 with early onset autism, 20 with regressive autism and two contrast groups, younger typically developing children (n = 20) and age matched children with significant developmental delays (n = 21). Analyses of co-variance controlling for differences in verbal mental age revealed significant main effects for task, but no main effect of group and no interaction of task by group. Deferred imitation scores were lower than immediate imitation scores for all groups. Imitation performance was related to overall intellectual functioning for all groups, and there were moderate and significant relations between imitation in the immediate elicited condition and in the spontaneous deferred condition for all groups. Finally, there were no differences between onset subgroups in imitation scores, suggesting that the two share a similar phenotype involving both types of imitation. PMID:18221343

Brief Report: "Quick and (Not So) Dirty" Assessment of Change in Autism--Cross-Cultural Reliability of the Developmental Disabilities CGAS and the OSU Autism CGI

ERIC Educational Resources Information Center

Choque Olsson, Nora; Bölte, Sven

2014-01-01

There are few evaluated economic tools to assess change in autism. This study examined the inter-rater reliability of the Developmental Disabilities Children's Global Assessment Scale (DD-CGAS), and the OSU Autism Clinical Global Impression (OSU Autism CGI) in a European setting. Using these scales, 16 clinicians with multidisciplinary…

'Learn the signs. Act early': a campaign to help every child reach his or her full potential.

PubMed

Daniel, K L; Prue, C; Taylor, M K; Thomas, J; Scales, M

2009-09-01

To examine the application of a social marketing approach to increase the early identification and treatment of autism and other developmental disorders. The intervention used formative research, behaviour change theory and traditional social marketing techniques to develop a campaign targeting parents, healthcare professionals and early educators to increase awareness of autism and other developmental delays, and to prompt action if a developmental delay was suspected. Using social marketing principles, the Centers for Disease Control and Prevention applied baseline research with the target audiences to understand the barriers and motivators to behaviour change, which included a lack of knowledge and resources (barriers), along with a willingness to learn and do more (motivators). Focus group testing of potential campaign concepts led to one particular approach and accompanying images, which together increased perceived severity of the problem and encouraged taking action. The audience research also helped to shape the marketing mix (product, price, place and promotion). Three-year follow-up research in this case study indicates a significant change in parent target behaviours, particularly among parents aware of the campaign, and substantially more healthcare professionals believe that they have the resources to educate parents about monitoring their child's cognitive, social and physical development. Qualitative results from early educators and childcare professional associations have been positive about products developed for daycare settings. The application of social marketing principles, behavior change theory and audience research was an effective approach to changing behaviours in this case. Understanding what the target audiences want and need, looking beyond parents to engage healthcare professionals and early educators, and engaging many strategic partners to extend the reach of the message helped campaign planners to develop a campaign that resonated with the target audiences and, importantly, moved them towards action.

Depressive and Anxiety Symptom Trajectories From School-Age Through Young Adulthood in Samples With Autism Spectrum Disorder and Developmental Delay

PubMed Central

Gotham, Katherine; Brunwasser, Steven M.; Lord, Catherine

2015-01-01

Objective To (1) model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD); and (2) assess relationships between internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Method Data were collected between 6-24 years of age in 165 participants (n=109 with ASD; n=56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3-6 months between ages 9-24. Parent-rated Child and Adult Behavior Checklists (CBCL; ABCL) and Developmental Behavior Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant two- and three-way interactions. Results Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post-hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Conclusion Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. While symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. PMID:25901773

Depressive and anxiety symptom trajectories from school age through young adulthood in samples with autism spectrum disorder and developmental delay.

PubMed

Gotham, Katherine; Brunwasser, Steven M; Lord, Catherine

2015-05-01

The objectives of this study were to model growth in anxiety and depressive symptoms from late school age through young adulthood in individuals with autism spectrum disorder (ASD) and controls with developmental delay (DD), and to assess relationships among internalizing growth patterns, participant characteristics, baseline predictors, and distal outcomes. Data were collected between ages 6 and 24 years in 165 participants (n = 109 with ASD; n = 56 with nonspectrum DD), most of whom received diagnostic evaluations in both childhood and early adulthood. Questionnaires were collected approximately every 3 to 6 months between ages 9 and 24 years. Parent-rated Child Behavior Checklist (CBCL), Adult Behavior Checklist (ABCL), and Developmental Behaviour Checklist anxiety- and depression-related subscale distributions were modeled with mixed-effects Poisson models, covarying diagnosis, age, verbal IQ (VIQ), gender, and significant 2- and 3-way interactions. Anxiety was positively associated with VIQ, and controlling for VIQ, both anxiety and depressive symptoms were greater in ASD than nonspectrum participants. Female gender predicted greater increases over time in anxiety and depressive symptoms for both diagnostic groups. Lower maternal education was associated with increasing internalizing symptoms in a subset of less verbal individuals with ASD. In exploratory post hoc analyses, internalizing symptoms were associated with poorer emotional regulation in school age, and with lower life satisfaction and greater social difficulties in early adulthood. Findings support previous claims that individuals with ASD are at particular risk for affect- and anxiety-specific problems. Although symptom levels in females increase at a faster rate throughout adolescence, males with ASD appear to have elevated levels of depressive symptoms in school age that are maintained into young adulthood. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

Mutational Analysis of Cell Types in TSC

DTIC Science & Technology

2008-01-01

disability, and autism . TSC1/TSC2 gene mutations lead to developmental alterations in brain structure known as tubers in over 80% of TSC patients. Loss of...that is associated with epilepsy, cognitive disability, and autism . TSC1/TSC2 gene mutations lead to developmental alterations in brain structure...2000). Comorbid neuropsychological disorders such as autism , mental retardation (MR), pervasive developmental disorder, attention deficit disorder (ADD

Validation of the diagnosis of autism in general practitioner records

PubMed Central

Fombonne, Eric; Heavey, Lisa; Smeeth, Liam; Rodrigues, Laura C; Cook, Claire; Smith, Peter G; Meng, Linyan; Hall, Andrew J

2004-01-01

Background We report on the validity of the computerized diagnoses of autism in a large case-control study investigating the possible association between autism and the measles, mumps and rubella vaccine in the UK using the General Practitioner Research Database (GPRD). We examined anonymized copies of all relevant available clinical reports, including general practitioners' (GP) notes, consultant, speech therapy and educational psychologists reports, on 318 subjects born between 1973 and 1997 with a diagnosis of autism or a related disorder recorded in their electronic general practice record. Methods Data were abstracted to a case validation form allowing for the identification of developmental symptoms relevant to the diagnosis of pervasive developmental disorders (PDDs). Information on other background clinical and familial features was also abstracted. A subset of 50 notes was coded independently by 2 raters to derive reliability estimates for key clinical characteristics. Results For 294 subjects (92.5%) the diagnosis of PDD was confirmed after review of the records. Of these, 180 subjects (61.2%) fulfilled criteria for autistic disorder. The mean age at first recording of a PDD diagnosis in the GPRD database was 6.3 years (SD = 4.6). Consistent with previous estimates, the proportion of subjects experiencing regression in the course of their development was 19%. Inter-rater reliability for the presence of a PDD diagnosis was good (kappa = .73), and agreement on clinical features such as regression, age of parental recognition of first symptoms, language delay and presence of epilepsy was also good (kappas ranging from .56 to 1.0). Conclusions This study provides evidence that the positive predictive value of a diagnosis of autism recorded in the GPRD is high. PMID:15113435

Prevalence and Impact of Unhealthy Weight in a National Sample of US Adolescents with Autism and Other Learning and Behavioral Disabilities

PubMed Central

Phillips, Keydra L.; Visser, Susanna; Boulet, Sheree; Sharma, Andrea J.; Kogan, Michael D.; Boyle, Coleen A.; Yeargin-Allsopp, Marshalyn

2015-01-01

We estimated the prevalence of obesity, overweight, and underweight among US adolescents with and without autism and other learning and behavioral developmental disabilities (DDs) and assessed the health consequences of obesity among adolescents with DDs. From the 2008 to 2010 National Health Interview Survey, we selected 9,619 adolescents ages 12–17 years. Parent respondents reported weight, height, presence of DDs and health conditions. We calculated body mass index (BMI) and defined obesity, overweight, and underweight as ≥95th, ≥85th to <95th, and <5th percentiles, respectively, using established criteria. We created mutually-exclusive DD subgroups using the following order of precedence: autism; intellectual disability; attention-deficit-hyper-activity-disorder; learning disorder/other developmental delay. We compared BMI outcomes among adolescents in each DD group versus adolescents without DDs using multivariable logistic regression. Socio-demographic factors and birthweight were included as confounders. Estimates were weighted to reflect the US population. Both obesity and underweight prevalences were higher among adolescents with than without DDs [adjusted prevalence ratios (aPR) 1.5 (1.25–1.75) and 1.5 (1.01–2.20), respectively]. Obesity was elevated among adolescents with all DD types, and was highest among the autism subgroup [aPR 2.1 (1.44–3.16)]. Adolescents with either a DD or obesity had higher prevalences of common respiratory, gastrointestinal, dermatological and neurological conditions/symptoms than nonobese adolescents without DDs. Adolescents with both DDs and obesity had the highest estimates for most conditions. Obesity is high among adolescents with autism and other DDs and poses added chronic health risks. Obesity prevention and management approaches for this vulnerable population subgroup need further consideration. PMID:24553796

A New Interactive Screening Test for Autism Spectrum Disorders in Toddlers.

PubMed

Choueiri, Roula; Wagner, Sheldon

2015-08-01

To develop a clinically valid interactive level 2 screening assessment for autism spectrum disorders (ASD) in toddlers that is brief, easily administered, and scored by clinicians. We describe the development, training, standardization, and validation of the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) with ASD-specific diagnostic instruments. The RITA-T can be administered and scored in 10 minutes. We studied the validity of the RITA-T to distinguish between toddlers with ASD from toddlers with developmental delay (DD)/non-ASD in an early childhood clinic. We also evaluated the test's performance in toddlers with no developmental concerns. We identified a cutoff score based on sensitivity, specificity, and positive predictive value of the RITA-T that best differentiates between ASD and DD/non-ASD. A total of 61 toddlers were enrolled. RITA-T scores were correlated with ASD-specific diagnostic tools (r = 0.79; P < .01) and ASD clinical diagnoses (r = 0.77; P < .01). Mean scores were significantly different in subjects with ASD, those with DD/non-ASD, and those with no developmental concerns (20.8 vs 13 vs 10.6, respectively; P < .0001). At a cutoff score of >14 , the RITA-T had a sensitivity of 1.00, specificity of 0.84, and positive predictive value of 0.88 for identifying ASD risk in a high-risk group. The RITA-T is a promising new level 2 interactive screening tool for improving the early identification of ASD in toddlers in general pediatric and early intervention settings and allowing access to treatment. Copyright © 2015 Elsevier Inc. All rights reserved.

Oral assessment of children with an autism spectrum disorder.

PubMed

DeMattei, R; Cuvo, A; Maurizio, S

2007-01-01

The study assessed the oral health status of children with an autism spectrum disorder (ASD) to help establish the oral health needs of this population. Oral assessments were conducted on 39 children with an ASD and 16 children with other developmental disabilities (DD), solicited from 3 different schools. Conditions assessed were bacterial plaque, gingivitis, dental caries, restorations, bruxism, delayed eruption/missing teeth, oral infection, developmental anomalies, injuries, occlusion, salivary flow, and oral defensiveness. Chi-square and Fisher's exact test of significance were used to compare groups. Young children with an ASD who resided with parents showed significantly more signs of bruxism than the comparison groups. Likewise, older children who lived at the residential school manifested significantly more gingivitis. No other significant differences existed when age and residence were considered for children with an ASD. When comparing children with ASD to those with another DD, the latter group showed significantly more oral injuries, abnormal salivary flow, and developmental anomalies. Children with an ASD displayed the following percentages for clinically visible conditions: plaque (85%), gingivitis (62%), and caries (21%). Approximately half of the children with ASD were orally defensive. Children with an ASD appear to have oral conditions that might increase the risk of developing dental disease. The extent of risk is unclear and needs further investigation.

Autism Spectrum Disorders (Pervasive Developmental Disorders)

ERIC Educational Resources Information Center

Strock, Margaret

2007-01-01

This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…

Dense home-based recordings reveal typical and atypical development of tense/aspect in a child with delayed language development.

PubMed

Chin, Iris; Goodwin, Matthew S; Vosoughi, Soroush; Roy, Deb; Naigles, Letitia R

2018-01-01

Studies investigating the development of tense/aspect in children with developmental disorders have focused on production frequency and/or relied on short spontaneous speech samples. How children with developmental disorders use future forms/constructions is also unknown. The current study expands this literature by examining frequency, consistency, and productivity of past, present, and future usage, using the Speechome Recorder, which enables collection of dense, longitudinal audio-video recordings of children's speech. Samples were collected longitudinally in a child who was previously diagnosed with autism spectrum disorder, but at the time of the study exhibited only language delay [Audrey], and a typically developing child [Cleo]. While Audrey was comparable to Cleo in frequency and productivity of tense/aspect use, she was atypical in her consistency and production of an unattested future form. Examining additional measures of densely collected speech samples may reveal subtle atypicalities that are missed when relying on only few typical measures of acquisition.

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

PubMed

Balci, Tugce B; Davila, Jorge; Lewis, Denice; Boafo, Addo; Sell, Erick; Richer, Julie; Nikkel, Sarah M; Armour, Christine M; Tomiak, Eva; Lines, Matthew A; Sawyer, Sarah L

2018-01-01

White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease. To our knowledge, this report constitutes the first detailed description of PTEN-related white matter changes in adult patients and in children with normal development and intelligence. We present a detailed assessment of the neuropsychological phenotype of our patients and discuss the relationship between the wide array of neuropsychiatric features and observed white matter findings in the context of these individuals. © 2017 Wiley Periodicals, Inc.

Neurodevelopmental Disorders and Prenatal Residential Proximity to Agricultural Pesticides: The CHARGE Study

PubMed Central

Geraghty, Estella M.; Tancredi, Daniel J.; Delwiche, Lora D.; Schmidt, Rebecca J.; Ritz, Beate; Hansen, Robin L.; Hertz-Picciotto, Irva

2014-01-01

Background: Gestational exposure to several common agricultural pesticides can induce developmental neurotoxicity in humans, and has been associated with developmental delay and autism. Objectives: We evaluated whether residential proximity to agricultural pesticides during pregnancy is associated with autism spectrum disorders (ASD) or developmental delay (DD) in the Childhood Autism Risks from Genetics and Environment (CHARGE) study. Methods: The CHARGE study is a population-based case–control study of ASD, DD, and typical development. For 970 participants, commercial pesticide application data from the California Pesticide Use Report (1997–2008) were linked to the addresses during pregnancy. Pounds of active ingredient applied for organophophates, organochlorines, pyrethroids, and carbamates were aggregated within 1.25-km, 1.5-km, and 1.75-km buffer distances from the home. Multinomial logistic regression was used to estimate the odds ratio (OR) of exposure comparing confirmed cases of ASD (n = 486) or DD (n = 168) with typically developing referents (n = 316). Results: Approximately one-third of CHARGE study mothers lived, during pregnancy, within 1.5 km (just under 1 mile) of an agricultural pesticide application. Proximity to organophosphates at some point during gestation was associated with a 60% increased risk for ASD, higher for third-trimester exposures (OR = 2.0; 95% CI: 1.1, 3.6), and second-trimester chlorpyrifos applications (OR = 3.3; 95% CI: 1.5, 7.4). Children of mothers residing near pyrethroid insecticide applications just before conception or during third trimester were at greater risk for both ASD and DD, with ORs ranging from 1.7 to 2.3. Risk for DD was increased in those near carbamate applications, but no specific vulnerable period was identified. Conclusions: This study of ASD strengthens the evidence linking neurodevelopmental disorders with gestational pesticide exposures, particularly organophosphates, and provides novel results of ASD and DD associations with, respectively, pyrethroids and carbamates. Citation: Shelton JF, Geraghty EM, Tancredi DJ, Delwiche LD, Schmidt RJ, Ritz B, Hansen RL, Hertz-Picciotto I. 2014. Neurodevelopmental disorders and prenatal residential proximity to agricultural pesticides: the CHARGE study. Environ Health Perspect 122:1103–1109; http://dx.doi.org/10.1289/ehp.1307044 PMID:24954055

Parents' Translations of Child Gesture Facilitate Word Learning in Children with Autism, Down Syndrome and Typical Development

PubMed Central

Dimitrova, Nevena; Özçalışkan, Şeyda; Adamson, Lauren B.

2016-01-01

Typically-developing (TD) children frequently refer to objects uniquely in gesture. Parents translate these gestures into words, facilitating children's acquisition of these words (Goldin-Meadow et al., 2007). We ask whether this pattern holds for children with autism (AU) and with Down syndrome (DS) who show delayed vocabulary development. We observed 23 children with ASD, 23 with DS, and 23 TD children with their parents over a year. Children used gestures to indicate objects before labeling them and parents translated their gestures into words. Importantly, children benefited from this input, acquiring more words for the translated gestures than the not translated ones. Results highlight the role contingent parental input to child gesture plays in language development of children with developmental disorders. PMID:26362150

Attentional Learning Helps Language Acquisition Take Shape for Atypically Developing Children, Not Just Children with Autism Spectrum Disorders.

PubMed

Field, Charlotte; Allen, Melissa L; Lewis, Charlie

2016-10-01

The shape bias-generalising labels to same shaped objects-has been linked to attentional learning or referential intent. We explore these origins in children with typical development (TD), autism spectrum disorders (ASD) and other developmental disorders (DD). In two conditions, a novel object was presented and either named or described. Children selected another from a shape, colour or texture match. TD children choose the shape match in both conditions, children with DD and 'high-verbal mental age' (VMA) children with ASD (language age > 4.6) did so in the name condition and 'low-VMA' children with ASD never showed the heuristic. Thus, the shape bias arises from attentional learning in atypically developing children and is delayed in ASD.

An Exploratory Analysis of Task-Interspersal Procedures While Teaching Object Labels to Children with Autism

PubMed Central

Volkert, Valerie M; Lerman, Dorothea C; Trosclair, Nicole; Addison, Laura; Kodak, Tiffany

2008-01-01

Research has demonstrated that interspersing mastered tasks with new tasks facilitates learning under certain conditions; however, little is known about factors that influence the effectiveness of this treatment strategy. The initial purpose of the current investigation was to evaluate the effects of similar versus dissimilar interspersed tasks while teaching object labels to children diagnosed with autism or developmental delays. We then conducted a series of exploratory analyses involving the type of reinforcer delivered for correct responses on trials with unknown or known object labels. Performance was enhanced under the interspersal condition only when either brief praise was delivered for all correct responses or presumably more preferred reinforcers were provided for performance on known trials rather than on unknown trials. PMID:18816973

Children With Autism Show Reduced Information Seeking When Learning New Tasks.

PubMed

Young, Nicole; Hudry, Kristelle; Trembath, David; Vivanti, Giacomo

2016-01-01

Information-seeking behaviours occur when children look to adults in order to gain further information about a novel stimulus/situation. The current study investigated information seeking in children with developmental delays (DD) and those with autism spectrum disorders (ASD) during a simulated teaching situation. Twenty preschool-aged children with ASD and 15 children with DD were exposed to a series of videos where a teacher provided novel instructions and demonstrated novel actions. We found that children with DD, but not those with ASD, demonstrated information-seeking behaviours in response to instructions that exceeded their level of understanding. This suggests that children with DD may use information-seeking behaviours to compensate for their cognitive and language difficulties when novel actions are being taught, while the same is not true for children with ASD.

Accuracy of "Modified Checklist for Autism in Toddlers" ("M-CHAT") in Detecting Autism and Other Developmental Disorders in Community Clinics

ERIC Educational Resources Information Center

Toh, Teck-Hock; Tan, Vivian Wee-Yen; Lau, Peter Sie-Teck; Kiyu, Andrew

2018-01-01

This study determined the accuracy of "Modified Checklist for Autism in Toddlers" ("M-CHAT") in detecting toddlers with autism spectrum disorder (ASD) and other developmental disorders (DD) in community mother and child health clinics. We analysed 19,297 eligible toddlers (15-36 months) who had "M-CHAT" performed in…

Autism and Diagnostic Substitution: Evidence from a Study of Adults with a History of Developmental Language Disorder

ERIC Educational Resources Information Center

Bishop, Dorothy V. M.; Whitehouse, Andrew J. O.; Watt, Helen J.; Line, Elizabeth A.

2008-01-01

Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A…

Brief Report: Independent Validation of Autism Spectrum Disorder Case Status in the Utah Autism and Developmental Disabilities Monitoring (ADDM) Network Site

ERIC Educational Resources Information Center

Bakian, Amanda V.; Bilder, Deborah A.; Carbone, Paul S.; Hunt, Tyler D.; Petersen, Brent; Rice, Catherine E.

2015-01-01

An independent validation was conducted of the Utah Autism and Developmental Disabilities Monitoring Network's (UT-ADDM) classification of children with autism spectrum disorder (ASD). UT-ADDM final case status (n = 90) was compared with final case status as determined by independent external expert reviewers (EERs). Inter-rater reliability…

Pediatric cochlear implants: additional disabilities prevalence, risk factors, and effect on language outcomes.

PubMed

Birman, Catherine S; Elliott, Elizabeth J; Gibson, William P R

2012-10-01

To determine the prevalence of additional disabilities in a pediatric cochlear population, to identify medical and radiologic conditions associated with additional disabilities, and to identify the effect of additional disabilities on speech perception and language at 12 months postoperatively. Retrospective case review. Tertiary referral center and cochlear implant program. Records were reviewed for children 0 to 16 years old inclusive, who had cochlear implant-related operations over a 12-month period. Diagnostic and rehabilitative. Additional disabilities prevalence; medical history and radiologic abnormalities; and the effect on Categories of Auditory Performance (CAP) score at 12 months postoperatively. Eighty-eight children having 96 operations were identified. The overall prevalence of additional disabilities (including developmental delay, cerebral palsy, visual impairment, autism and attention deficit disorder) was 33%. The main conditions associated with additional disabilities were syndromes and chromosomal abnormalities (87%), jaundice (86%), prematurity (62%), cytomegalovirus (60%), and inner ear abnormalities including cochlea nerve hypoplasia or aplasia (75%) and semicircular canal anomalies (56%). At 12 months postoperatively, almost all (96%) of the children without additional disabilities had a CAP score of 5 or greater (speech), compared with 52% of children with additional disabilities. Children with developmental delay had a median CAP score of 4, at 12 months compared with 6 for those without developmental delay. Additional disabilities are prevalent in approximately a third of pediatric cochlear implant patients. Additional disabilities significantly affect the outcomes of cochlear implants.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

PubMed

Pebrel-Richard, Céline; Debost-Legrand, Anne; Eymard-Pierre, Eléonore; Greze, Victoria; Kemeny, Stéphan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Vago, Philippe; Goumy, Carole; Francannet, Christine

2014-03-01

With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (∼29.5 to ∼30.1 Mb; Hg18) and the 220-kb distal deletion (∼28.74 to ∼28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders.

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3

PubMed Central

Pebrel-Richard, Céline; Debost-Legrand, Anne; Eymard-Pierre, Eléonore; Greze, Victoria; Kemeny, Stéphan; Gay-Bellile, Mathilde; Gouas, Laetitia; Tchirkov, Andreï; Vago, Philippe; Goumy, Carole; Francannet, Christine

2014-01-01

With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (∼29.5 to ∼30.1 Mb; Hg18) and the 220-kb distal deletion (∼28.74 to ∼28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders. PMID:23860047

Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder

PubMed Central

Thurman, Angela John; McDuffie, Andrea; Kover, Sara T.; Hagerman, Randi J.; Abbeduto, Leonard

2015-01-01

Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional developmental trajectories approach to compare the profiles of autism symptomatology relative to chronological age (CA), nonverbal IQ, and expressive vocabulary ability between individuals with FXS and individuals with nonsyndromic ASD. Results suggest that the onset of autism symptoms and their developmental trajectories in males with FXS differ in important ways as a function of chronological age, nonverbal cognitive ability, and expressive vocabulary relative to males with nonsyndromic ASD. Theoretical and clinical implications are discussed. PMID:25904201

Long-term memory in older children/adolescents and adults with autism spectrum disorder.

PubMed

Williams, Diane L; Minshew, Nancy J; Goldstein, Gerald; Mazefsky, Carla A

2017-09-01

This study extends prior memory reports in autism spectrum disorders (ASD) by investigating memory for narratives after longer recall periods and by examining developmental aspects of narrative memory using a cross-sectional design. Forty-seven older children/adolescents with ASD and 31 youth with typical development (TD) and 39 adults with ASD and 45 TD adults were compared on memory for stories from standardized measures appropriate for each age group at three intervals (immediate, 30 min, and 2 day). Both the youth with and without ASD had difficulty with memory for story details with increasing time intervals. More of the youths with ASD performed in the range of impairment when recalling the stories 2 days later as compared to the TD group. The adults with ASD had more difficulty on memory for story details with increasing delay and were poorer at recall of thematic information (needed to create a gist) across the three delay conditions as compared to the TD group. Analyses of the individual results suggested that memory for details of most of the adults with ASD was not impaired when applying a clinical standard; however, a significant percentage of the adults with ASD did not make use of thematic information to organize the narrative information, which would have helped them to remember the stories. The youth with and without ASD performed similarly when both were at a stage of development when memory for details is the primary strategy. The adults with ASD had difficulty with use organizational strategies to support episodic memory. Autism Res 2017, 10: 1523-1532. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

PubMed

Devillard, Françoise; Guinchat, Vincent; Moreno-De-Luca, Daniel; Tabet, Anne-Claude; Gruchy, Nicolas; Guillem, Pascale; Nguyen Morel, Marie-Ange; Leporrier, Nathalie; Leboyer, Marion; Jouk, Pierre-Simon; Lespinasse, James; Betancur, Catalina

2010-09-01

We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism.

Trends in Autism Spectrum Disorder Diagnoses: 1994-2007

ERIC Educational Resources Information Center

Rosenberg, Rebecca E.; Daniels, Amy M.; Law, J. Kiely; Law, Paul A.; Kaufmann, Walter E.

2009-01-01

We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not otherwise specified [PDD-NOS], pervasive developmental disorder ["PDD"] and autism spectrum disorder ["ASD"], and Asperger syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007.…

Autism Spectrum Disorders: A Natural Fit with DDD.

ERIC Educational Resources Information Center

Myles, Brenda Smith; Simpson, Richard L.; Babkie, Andrea M.

2003-01-01

This position statement from the Critical Issues Committee of the Developmental Disabilities Division of the Council for Exceptional Children focuses on clarifying the place of autism spectrum disorders within the field of developmental disabilities. The representation of concerns relating to autism spectrum disorders by the Developmental…

Pediatrician identification of Latino children at risk for autism spectrum disorder.

PubMed

Zuckerman, Katharine E; Mattox, Kimber; Donelan, Karen; Batbayar, Oyundari; Baghaee, Anita; Bethell, Christina

2013-09-01

Latino-white disparities in age at autism spectrum disorder (ASD) diagnosis may be modified by primary care pediatrician (PCP) practices and beliefs. The objectives of this study were to assess ASD and developmental screening practices, attitudes toward ASD identification in Latino children, and barriers to ASD identification for Latino children, in a sample of 267 California PCPs. In mail-based PCP survey, we assessed rates of bilingual general developmental and ASD screening, perceptions of parent ASD knowledge in Latino and white families, reports of difficulty assessing for ASDs in Latino and white children, and perceptions of barriers to early ASD identification for Latinos. Although 81% of PCPs offered some form of developmental screening, 29% of PCPs offered Spanish ASD screening per American Academy of Pediatrics guidelines, and only 10% offered both Spanish general developmental and Spanish ASD screening per American Academy of Pediatrics guidelines. Most PCPs thought that Latino (English and Spanish primary family language) parents were less knowledgeable about ASDs than white parents. PCPs had more difficulty assessing ASD risk for Latino children with Spanish primary family language than for white children, even when the PCP conducted recommended ASD screening or had >25% Latino patients. The most frequent barrier to ASD identification in Latinos was access to developmental specialists. Multiple factors in the primary care setting may contribute to delayed ASD identification for Latinos. Promoting language-appropriate screening, disseminating culturally appropriate ASD materials to Latino families, improving the specialist workforce, and providing PCP support in screening and referral of Latino children may be important ways to reduce racial and ethnic differences in care.

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

ERIC Educational Resources Information Center

Schendel, Diana E.; DiGuiseppi, Carolyn; Croen, Lisa A.; Fallin, M. Daniele; Reed, Philip L.; Schieve, Laura A.; Wiggins, Lisa D.; Daniels, Julie; Grether, Judith; Levy, Susan E.; Miller, Lisa; Newschaffer, Craig; Pinto-Martin, Jennifer; Robinson, Cordelia; Windham, Gayle C.; Alexander, Aimee; Aylsworth, Arthur S.; Bernal, Pilar; Bonner, Joseph D.; Blaskey, Lisa; Bradley, Chyrise; Collins, Jack; Ferretti, Casara J.; Farzadegan, Homayoon; Giarelli, Ellen; Harvey, Marques; Hepburn, Susan; Herr, Matthew; Kaparich, Kristina; Landa, Rebecca; Lee, Li-Ching; Levenseller, Brooke; Meyerer, Stacey; Rahbar, Mohammad H.; Ratchford, Andria; Reynolds, Ann; Rosenberg, Steven; Rusyniak, Julie; Shapira, Stuart K.; Smith, Karen; Souders, Margaret; Thompson, Patrick Aaron; Young, Lisa; Yeargin-Allsopp, Marshalyn

2012-01-01

The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal,…

The developmental switch in GABA polarity is delayed in fragile X mice.

PubMed

He, Qionger; Nomura, Toshihiro; Xu, Jian; Contractor, Anis

2014-01-08

Delays in synaptic and neuronal development in the cortex are key hallmarks of fragile X syndrome, a prevalent neurodevelopmental disorder that causes intellectual disability and sensory deficits and is the most common known cause of autism. Previous studies have demonstrated that the normal progression of plasticity and synaptic refinement during the critical period is altered in the cortex of fragile X mice. Although the disruptions in excitatory synapses are well documented in fragile X, there is less known about inhibitory neurotransmission during the critical period. GABAergic transmission plays a crucial trophic role in cortical development through its early depolarizing action. At the end of cortical critical period, response properties of GABA transform into their mature hyperpolarizing type due to developmental changes in intracellular chloride homeostasis. We found that the timing of the switch from depolarizing to hyperpolarizing GABA is delayed in the cortex of fragile X mice and there is a concurrent alteration in the expression of the neuronal chloride cotransporter NKCC1 that promotes the accumulation of intracellular chloride. Disruption of the trophic effects of GABA during cortical development could contribute to the altered trajectory of synaptic maturation in fragile X syndrome.

Performance of South African children on the Communication and Symbolic Behavior Scales-Developmental Profile (CSBS DP).

PubMed

Chambers, Nola; Stronach, Sheri T; Wetherby, Amy M

2016-05-01

Substantial development in social communication skills occurs in the first two years of life. Growth should be evident in sharing emotion and eye gaze; rate of communication, communicating for a variety of functions; using gestures, sounds and words; understanding language, and using functional and pretend actions with objects in play. A delay in these early social communication skills may be the first sign of a developmental delay in young children in nearly all categories of disabilities-including specific language impairment, autism spectrum disorder, HIV/AIDS, lack of environmental stimulation or institutionalization, and global developmental delays-and early detection of these delays is critical for enrolment in appropriate early intervention services. No standardized tests of early social communication skills exist for very young children in South Africa (SA). An existing evaluation tool that has the potential to be culturally fair for children from cultural backgrounds different to the standardization group is the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS DP). This study aimed to document the performance of a group of English-speaking SA children ranging in age from 12 to 24 months on the CSBS DP and to compare this performance with the original standardization sample. Sixty-seven English-speaking SA children from a range of cultural and linguistic backgrounds were assessed on the CSBS DP Behaviour Sample. Group scores were compared with the original standardization sample using inferential statistics. The results provide preliminary support for the suitability and validity of the face-to-face Behaviour Sample as a measure of early social communication skills in this sample of English-speaking SA children from a range of cultural groups between 12 and 24 months of age. While further research in the SA population is needed, these findings are a first step towards validating a culturally appropriate measure for early detection of social communication delays in a sample of SA toddlers. © 2015 Royal College of Speech and Language Therapists.

Concurrent Validity of Two Standardized Measures of Gross Motor Function in Young Children with Autism Spectrum Disorder.

PubMed

Holloway, Jamie M; Long, Toby; Biasini, Fred

2018-04-02

This study provides information on how two standardized measures based on different theoretical frameworks can be used in collecting information on motor development and performance in 4- and 5-year-olds with autism spectrum disorder (ASD). The purpose of the study was to determine the concurrent validity of the Miller Function and Participation Scales (M-FUN) with the Peabody Developmental Motor Scales, Second Edition (PDMS-2) in young children with ASD. The gross motor sections of the PDMS-2 and the M-FUN were administered to 22 children with ASD between the ages of 48 and 71 months. Concurrent validity between overall motor scores and agreement in identification of motor delay were assessed. A very strong correlation (Pearson's r =.851) was found between the M-FUN scale scores and the PDMS-2 gross motor quotients (GMQs). Strong agreement in identification of children with average motor skills and delayed motor skills at 1.5 standard deviations below the mean was also found. This study supports the concurrent validity of the M-FUN with the PDMS-2 for young children with ASD. While both tests provide information regarding motor delay, the M-FUN may provide additional information regarding the neurological profile of the child.

New Perspective on Impact of Folic Acid Supplementation during Pregnancy on Neurodevelopment/Autism in the Offspring Children – A Systematic Review

PubMed Central

Sun, Wen; Asztalos, Elizabeth; Moddemann, Diane; Zwaigenbaum, Lonnie; Walker, Mark; Wen, Shi Wu

2016-01-01

It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs. We conducted an online search of relevant literature compiled by the National Library of Medicine from Medline and EMBASE (searched on Dec 31, 2014: http://www.ncbi.nlm.nih.gov/entrez/query/fcgi and http://www.elsevier.com/online-tools/embase). We first created 3 files (search restricted to English literature) using the following key words: 1) folate or folic acid (171322 papers identified by this search); 2) maternal or pregnancy or pregnant or gestation or gestational or prenatal or antenatal or periconception or periconceptional (1349219 papers identified by this search); and 3) autism or autism spectrum disorders or developmental delay or development or neurodevelopment or mental or cognitive or language or personal-social or gross motor or fine motor or behaviour or intellectual or intelligence or Bayley Scale (8268145 papers identified by this search). We then merged the 3 files and reviewed the papers that addressed these three issues simultaneously. A total of 22 original papers that examined the association between folic acid supplementation in human pregnancy and neurodevelopment/autism were identified after the screening, with 15 studies showing a beneficial effect of folic acid supplementation on neurodevelopment/autism, 6 studies showed no statistically significant difference, while one study showed a harmful effect in > 5 mg folic acid supplementation/day during pregnancy. Folic acid supplementation in pregnancy may have beneficial effects on the neurodevelopment of children beyond its proven effect on NTDs. PMID:27875541

New Perspective on Impact of Folic Acid Supplementation during Pregnancy on Neurodevelopment/Autism in the Offspring Children - A Systematic Review.

PubMed

Gao, Yunfei; Sheng, Chao; Xie, Ri-Hua; Sun, Wen; Asztalos, Elizabeth; Moddemann, Diane; Zwaigenbaum, Lonnie; Walker, Mark; Wen, Shi Wu

2016-01-01

It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs. We conducted an online search of relevant literature compiled by the National Library of Medicine from Medline and EMBASE (searched on Dec 31, 2014: http://www.ncbi.nlm.nih.gov/entrez/query/fcgi and http://www.elsevier.com/online-tools/embase). We first created 3 files (search restricted to English literature) using the following key words: 1) folate or folic acid (171322 papers identified by this search); 2) maternal or pregnancy or pregnant or gestation or gestational or prenatal or antenatal or periconception or periconceptional (1349219 papers identified by this search); and 3) autism or autism spectrum disorders or developmental delay or development or neurodevelopment or mental or cognitive or language or personal-social or gross motor or fine motor or behaviour or intellectual or intelligence or Bayley Scale (8268145 papers identified by this search). We then merged the 3 files and reviewed the papers that addressed these three issues simultaneously. A total of 22 original papers that examined the association between folic acid supplementation in human pregnancy and neurodevelopment/autism were identified after the screening, with 15 studies showing a beneficial effect of folic acid supplementation on neurodevelopment/autism, 6 studies showed no statistically significant difference, while one study showed a harmful effect in > 5 mg folic acid supplementation/day during pregnancy. Folic acid supplementation in pregnancy may have beneficial effects on the neurodevelopment of children beyond its proven effect on NTDs.

Motor Stereotypies in Children with Autism and Other Developmental Disorders

ERIC Educational Resources Information Center

Goldman, Sylvie; Wang, Cuiling; Salgado, Miran W.; Greene, Paul E.; Kim, Mimi; Rapin, Isabelle

2009-01-01

The purpose of the study was to count and characterize the range of stereotypies--repetitive rhythmical, apparently purposeless movements--in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy…

Autism Developmental Profiles and Cooperation with Oral Health Screening

ERIC Educational Resources Information Center

Du, Rennan Y.; Yiu, Cynthia C. Y.; Wong, Virginia C. N.; McGrath, Colman P.

2015-01-01

To determine the associations between autism developmental profiles and cooperation with an oral health screening among preschool children with autism spectrum disorders (ASDs). A random sample of Special Child Care Centres registered with the Government Social Welfare Department in Hong Kong was selected (19 out of 37 Centres). All preschool…

Learning through Seeing and Doing: Visual Supports for Children with Autism

ERIC Educational Resources Information Center

Rao, Shaila M.; Gagie, Brenda

2006-01-01

Autism is a life-long, complex developmental disorder that causes impairment in the way individuals process information. Autism belongs to heterogeneous categories of developmental disabilities where neurological disorders lead to deficits in a child's ability to communicate, understand language, play, develop social skills, and relate to others.…

Brief report: Poor self-regulation as a predictor of individual differences in adaptive functioning in young children with autism spectrum disorder.

PubMed

Uljarević, Mirko; Hedley, Darren; Nevill, Rose; Evans, David W; Cai, Ru Ying; Butter, Eric; Mulick, James A

2018-04-06

The present study examined the link between poor self-regulation (measured by the child behavior checklist dysregulated profile [DP]) and core autism symptoms, as well as with developmental level, in a sample of 107 children with autism spectrum disorder (ASD) aged 19-46 months. We further examined the utility of DP in predicting individual differences in adaptive functioning, relative to the influence of ASD severity, chronological age (CA), and developmental level. Poor self-regulation was unrelated to CA, developmental level, and severity of ADOS-2 restricted and repetitive behaviors, but was associated with lower ADOS-2 social affect severity. Hierarchical regression identified poor self-regulation as a unique independent predictor of adaptive behavior, with more severe dysregulation predicting poorer adaptive functioning. Results highlight the importance of early identification of deficits in self-regulation, and more specifically, of the utility of DP, when designing individually tailored treatments for young children with ASD. Autism Res 2018. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. This study explored the relationship between poor self-regulation and age, verbal and non-verbal developmental level, severity of autism symptoms and adaptive functioning in 107 children with autism under 4 years of age. Poor self-regulation was unrelated to age, developmental level, and severity of restricted and repetitive behaviors but was associated with lower social affect severity. Importantly, more severe self-regulation deficits predicted poorer adaptive functioning. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

Community Report from the Autism and Developmental Disabilities Monitoring (ADDM) Network: Prevalence of Autism Spectrum Disorders (ASDs) among Multiple Areas of the United States in 2008

ERIC Educational Resources Information Center

Centers for Disease Control and Prevention, 2012

2012-01-01

The Centers for Disease Control and Prevention (CDC) estimates that about 1 in 88 children has been identified with an autism spectrum disorder (ASD). CDC's estimate comes from the Autism and Developmental Disabilities Monitoring (ADDM) Network, which monitors the number of 8-year-old children with ASDs living in diverse communities throughout the…

Developmental Regression in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Rogers, Sally J.

2004-01-01

The occurrence of developmental regression in autism is one of the more puzzling features of this disorder. Although several studies have documented the validity of parental reports of regression using home videos, accumulating data suggest that most children who demonstrate regression also demonstrated previous, subtle, developmental differences.…

[Family paracentric inversion of the short arm of chromosome X (Xp21.2p11.23) and connection with autism spectrum disorders].

PubMed

Milovančević, Milica Pejović; Vešić, Marija; Jelisavčić, Marko; Nikšić, Snežana; Pilić, Gordana Radivojević; Maravić, Vanja Mandić

2012-01-01

Autism spectrum disorders (ASDs) are a group of complex pervasive developmental disorders characterized by impairments in communication, social interaction and behavior. In most cases autism is caused by a combination of genetic factors and environmental risk factors. In 10% to 20% of cases it has been shown that the cause of ASD is genetic. We are describing a 2-year-old boy who was referred to genetic counseling because of speech delay and certain autism-like behavior. By cytogenetic analysis the karyotype 46, inv(X),Y was obtained. The boy was a carrier of a paracentric inversion of the short arm of the chromosome X. After cytogenetic analysis of parental blood, it was detected that mother was a carrier of identical aberration, but had no clinical signs. The method of fluorescent in situ hybridization (FISH) yielded the precise breakpoint in the region (p21.2p11.23). Mother and son were carriers of identical X chromosome. Breakpoints are located in the regions that have already been linked to autism, which indicates that the positional effect of the gene could have been a possible cause of the patient's genotype. In addition to positional effects, in order to better understand the etiology of autism other genetic and environmental factors should be always taken into consideration.

Similar Developmental Trajectories in Autism and Asperger Syndrome: From Early Childhood to Adolescence

ERIC Educational Resources Information Center

Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H.

2009-01-01

Objective: The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Method: Sixty-four…

Injury Treatment among Children with Autism or Pervasive Developmental Disorder

ERIC Educational Resources Information Center

McDermott, Suzanne; Zhou, Li; Mann, Joshua

2008-01-01

This study examined the differences in the frequency and type of injury for children with autism and pervasive developmental disorder (PDD) compared with typically developing peers, when both groups are insured by Medicaid. The relative rate (RR) of emergency/hospital treatment of injury for children with autism or PDD compared to controls was…

[Early diagnosis of autism: Phenotype-endophenotype].

PubMed

Kotsopoulos, S

2015-01-01

Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention. Postponing the diagnosis and the intervention beyond infancy is considered loss of precious time. The diagnosis of autism, which begins early in life, was until recently considered that could be reliability made at the age of 3 years. Recent follow up studies however on children at risk for autism (children who had an older sibling with autism) have shown that the clinical signs of autism emerge at the end of the first year and become distinct by the end of the second year when the diagnosis can reliably be made. From a clinical perspective it is noted that the early clinical signs of risk for autism are related to social communication (e.g. limited or absent response when calling his/her name and to joint attention), stereotype behaviours and body movements or unusual handling of objects (e.g. intensive observation of objects and stereotype movements of hands and tapping or spinning), incongruent regulation of emotions (reduced positive and increased negative emotion). There is also delay in developmental characteristics such as the language (both receptive and expressive) and motor (particularly in postural control - characteristic is the drop of the head backwards when the infant is held in horizontal position). Studies on various aspects of the endophenotype of certain clinical signs among infants at risk for Autism Spectrum Disorders, such as avoidance of eye contact, delay in verbal communication and increase of the head circumference, may provide useful information and may assist the clinician on follow up in the early diagnosis. Compared to the progress made for an early diagnosis of autism there is relatively no equal progress in the early intervention. However, some methods such as the 'Early Start Denver Model' which focuses in the family, which is the natural environment of the child, may provide a useful framework for effective work with the child and the family.

Landau-Kleffner Syndrome

MedlinePlus

... difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/ ... difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/ ...

Development and psychometric evaluation of a psychosocial quality-of-life questionnaire for individuals with autism and related developmental disorders.

PubMed

Markowitz, Leslie A; Reyes, Charina; Embacher, Rebecca A; Speer, Leslie L; Roizen, Nancy; Frazier, Thomas W

2016-10-01

This study investigated the psychometric properties of the Child and Family Quality of Life scale, a measure of psychosocial quality of life in those with autism and related developmental disorders. Parents of 212 children suspected of autism spectrum disorder completed the Child and Family Quality of Life prior to a diagnostic evaluation. Results indicated that the Child and Family Quality of Life measured six unique quality-of-life constructs (child, family/caregiver, financial, external support, partner relationship, and coping), had good reliability across score ranges and exhibited expected patterns of convergent validity. Caregivers of autism spectrum disorder-affected children reported reduced family quality of life prior to the time of diagnosis relative to caregivers of children with other developmental disabilities. The Child and Family Quality of Life is a brief, reliable measure for assessing psychosocial quality of life in families affected by developmental disability. This study is the first to demonstrate impairments in family quality of life early in the developmental course of autism spectrum disorder, prior to formal diagnosis. In addition to traditional child-focused intervention strategies, families with autism spectrum disorder-affected children require early, broad intervention strategies that positively impact the whole family. © The Author(s) 2015.

Parents' Translations of Child Gesture Facilitate Word Learning in Children with Autism, Down Syndrome and Typical Development.

PubMed

Dimitrova, Nevena; Özçalışkan, Şeyda; Adamson, Lauren B

2016-01-01

Typically-developing (TD) children frequently refer to objects uniquely in gesture. Parents translate these gestures into words, facilitating children's acquisition of these words (Goldin-Meadow et al. in Dev Sci 10(6):778-785, 2007). We ask whether this pattern holds for children with autism (AU) and with Down syndrome (DS) who show delayed vocabulary development. We observed 23 children with AU, 23 with DS, and 23 TD children with their parents over a year. Children used gestures to indicate objects before labeling them and parents translated their gestures into words. Importantly, children benefited from this input, acquiring more words for the translated gestures than the not translated ones. Results highlight the role contingent parental input to child gesture plays in language development of children with developmental disorders.

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

PubMed

Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L; Ledbetter, David H; Spiro, John E; Chung, Wendy K; Hanson, Ellen

2016-08-01

The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism

PubMed Central

Jiang, Xi; Hu, Haiyang; Guijarro, Patricia; Mitchell, Amanda; Ely, John J.; Sherwood, Chet C.; Hof, Patrick R.; Qiu, Zilong; Pääbo, Svante; Akbarian, Schahram; Khaitovich, Philipp

2016-01-01

Cognitive defects in autism spectrum disorder (ASD) include socialization and communication: key behavioral capacities that separate humans from other species. Here, we analyze gene expression in the prefrontal cortex of 63 autism patients and control individuals, as well as 62 chimpanzees and macaques, from natal to adult age. We show that among all aberrant expression changes seen in ASD brains, a single aberrant expression pattern overrepresented in genes involved synaptic-related pathways is enriched in nucleotide variants linked to autism. Furthermore, only this pattern contains an excess of developmental expression features unique to humans, thus resulting in the disruption of human-specific developmental programs in autism. Several members of the early growth response (EGR) transcription factor family can be implicated in regulation of this aberrant developmental change. Our study draws a connection between the genetic risk architecture of autism and molecular features of cortical development unique to humans. PMID:27685936

Molecular mechanisms underlying neurodevelopmental disorders, ADHD and autism.

PubMed

Bădescu, George Mihai; Fîlfan, Mădălina; Sandu, Raluca Elena; Surugiu, Roxana; Ciobanu, Ovidiu; Popa-Wagner, Aurel

2016-01-01

Neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism represent a significant economic burden, which justify vigorous research to uncover its genetics and developmental clinics for a diagnostic workup. The urgency of addressing attention deficit hyperactivity disorder comorbidities is seen in the chilling fact that attention deficit hyperactivity disorder (ADHD), mood disorders, substance use disorders and obesity each increase the risk for mortality. However, data about comorbidity is mainly descriptive, with mechanistic studies limited to genetic epidemiological studies that document shared genetic risk factors among these conditions. Autism and intellectual disability affects 1.5 to 2% of the population in Western countries with many individuals displaying social-emotional agnosia and having difficulty in forming attachments and relationships. Underlying mechanisms include: (i) dysfunctions of neuronal miRNAs; (ii) deletions in the chromosome 21, subtelomeric deletions, duplications and a maternally inherited duplication of the chromosomal region 15q11-q13; (iii) microdeletions in on the long (q) arm of the chromosome in a region designated q21.1 increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems associated with autism, schizophrenia, and epilepsy and weak muscle tone (hypotonia); (iv) interstitial duplications encompassing 16p13.11.

Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders.

PubMed

Farmer, Cristan; Golden, Christine; Thurm, Audrey

2016-01-01

Estimates of intelligence in young children with neurodevelopmental disorders are critical for making diagnoses, in characterizing symptoms of disorders, and in predicting future outcomes. The limitations of standardized testing for children with developmental delay or cognitive impairment are well known: Tests do not exist that provide developmentally appropriate material along with norms that extend to the lower reaches of ability. Two commonly used and interchanged instruments are the Mullen Scales of Early Learning (MSEL), a test of developmental level, and the Differential Ability Scales, second edition (DAS-II), a more traditional cognitive test. We evaluated the correspondence of contemporaneous MSEL and the DAS-II scores in a mixed sample of children aged 2-10 years with autism spectrum disorder (ASD), non-ASD developmental delays, and typically developing children across the full spectrum of cognitive ability. Consistent with published data on the original DAS and the MSEL, scores on the DAS-II and MSEL were highly correlated. However, curve estimation revealed large mean differences that varied as a function of the child's cognitive ability level. We conclude that interchanging MSEL and DAS-II scores without regard to the discrepancy in scores may produce misleading results in both cross-sectional and longitudinal studies of children with and without ASD, and, thus, this practice should be implemented with caution.

Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention

PubMed Central

Hepburn, Susan L.; Moody, Eric J.

2015-01-01

Assessing symptoms of autism in persons with known genetic syndromes associated with intellectual and/or developmental disability is a complex clinical endeavor. We suggest that a developmental approach to evaluation is essential to reliably teasing apart global impairments from autism-specific symptomology. In this chapter, we discuss our assumptions about autism spectrum disorders, the process of conducting a family-focused, comprehensive evaluation with behaviorally complex children and some implications for intervention in persons with co-occurring autism and known genetic syndromes. PMID:26269783

Latent Class Analysis of Early Developmental Trajectory in Baby Siblings of Children with Autism

ERIC Educational Resources Information Center

Landa, Rebecca J.; Gross, Alden L.; Stuart, Elizabeth A.; Bauman, Margaret

2012-01-01

Background: Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Methods: Sibs-A (N = 204) were assessed…

Using Video Modeling to Teach Young Children with Autism Developmentally Appropriate Play and Connected Speech

ERIC Educational Resources Information Center

Scheflen, Sarah Clifford; Freeman, Stephanny F. N.; Paparella, Tanya

2012-01-01

Four children with autism were taught play skills through the use of video modeling. Video instruction was used to model play and appropriate language through a developmental sequence of play levels integrated with language techniques. Results showed that children with autism could successfully use video modeling to learn how to play appropriately…

An Investigation of Sleep Characteristics, EEG Abnormalities and Epilepsy in Developmentally Regressed and Non-Regressed Children with Autism

ERIC Educational Resources Information Center

Giannotti, Flavia; Cortesi, Flavia; Cerquiglini, Antonella; Miraglia, Daniela; Vagnoni, Cristina; Sebastiani, Teresa; Bernabei, Paola

2008-01-01

This study investigated sleep of children with autism and developmental regression and the possible relationship with epilepsy and epileptiform abnormalities. Participants were 104 children with autism (70 non-regressed, 34 regressed) and 162 typically developing children (TD). Results suggested that the regressed group had higher incidence of…

Unhappy (and Happy) in Their Own Way: A Developmental Psychopathology Perspective on Quality of Life for Families Living with Developmental Disability with and without Autism

ERIC Educational Resources Information Center

Gardiner, Emily; Iarocci, Grace

2012-01-01

Research on families living with developmental disability generally and autism specifically is dominated by a deficit view that elicits an elaborate representation of problems and risks without the benefit of considering families' potential for adaptation and resilience. A central tenet of developmental psychopathology is that the study of…

Toilet Training Individuals with Autism and Other Developmental Disabilities: A Critical Review

ERIC Educational Resources Information Center

Kroeger, K. A.; Sorensen-Burnworth, Rena

2009-01-01

The following article reviews the current literature addressing toilet training individuals with autism and other developmental disabilities. The review addresses programs typical to toilet training the developmental disability population, most of which are modeled after the original Foxx and Azrin [Azrin, N. H., & Foxx, R. M. (1971). A rapid…

Communicative Acts of Children with Autism Spectrum Disorders in the Second Year of Life

PubMed Central

Shumway, Stacy; Wetherby, Amy M.

2009-01-01

Purpose This study examined the communicative profiles of children with autism spectrum disorders (ASD) in the second year of life. Method Communicative acts were examined in 125 children 18 to 24 months of age: 50 later diagnosed with ASD; 25 with developmental delays (DD); and 50 with typical development (TD). Precise measures of rate, functions, and means of communication were obtained through systematic observation of videotaped Behavior Samples from the Communication and Symbolic Behavior Scales Developmental Profile (Wetherby & Prizant, 2002). Results Children with ASD communicated at a significantly lower rate than children with DD and TD. The ASD group used a significantly lower proportion of acts for joint attention and a significantly lower proportion of deictic gestures with a reliance on more primitive gestures compared to DD and TD. Children with ASD who did communicate for joint attention were as likely as other children to coordinate vocalizations, eye gaze, and gestures. Rate of communicative acts and joint attention were the strongest predictors of verbal outcome at age 3. Conclusions By 18 to 24 months of age, children later diagnosed with ASD showed a unique profile of communication, with core deficits in communication rate, joint attention, and communicative gestures. PMID:19635941

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

PubMed Central

Lynch, Sally Ann; Foulds, Nicola; Thuresson, Ann-Charlotte; Collins, Amanda L; Annerén, Göran; Hedberg, Bernt-Oves; Delaney, Carol A; Iremonger, James; Murray, Caroline M; Crolla, John A; Costigan, Colm; Lam, Wayne; Fitzpatrick, David R; Regan, Regina; Ennis, Sean; Sharkey, Freddie

2011-01-01

We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included HMGA2, and both children had significant short stature. Neither case had osteopoikilosis despite both being deleted for LEMD3. Four cases had deletions that ended proximal to HMGA2 and all of these had much better growth. Five cases had congenital heart defects, including two with atrial septal defects, one each with pulmonary stenosis, sub-aortic stenosis and a patent ductus. Four cases had moderate delay, two had severe developmental delay and a further two had a diagnosis of autism. All six cases had significant speech delay with subtle facial dysmorphism. PMID:21267005

Genetics Home Reference: 2q37 deletion syndrome

MedlinePlus

... 25 percent of people with this condition have autism, a developmental condition that affects communication and social ... Additional Information & Resources MedlinePlus (4 links) Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Health Topic: ...

Extraction and Refinement Strategy for detection of autism in 18-month-olds: a guarantee of higher sensitivity and specificity in the process of mass screening.

PubMed

Honda, Hideo; Shimizu, Yasuo; Nitto, Yukari; Imai, Miho; Ozawa, Takeshi; Iwasa, Mitsuaki; Shiga, Keiko; Hira, Tomoko

2009-08-01

For early detection of autism, it is difficult to maintain an efficient level of sensitivity and specificity based on observational data from a single screening. The Extraction and Refinement (E&R) Strategy utilizes a public children's health surveillance program to produce maximum efficacy in early detection of autism. In the extraction stage, all cases at risk of childhood problems, including developmental abnormality, are identified; in the refinement stage, cases without problems are excluded, leaving only cases with conclusive diagnoses. The city of Yokohama, Japan, conducts a routine child health surveillance program for children at 18 months in which specialized public health nurses administer YACHT-18 (Young Autism and other developmental disorders CHeckup Tool), a screening instrument to identify children at risk for developmental disorders. Children who screen positive undergo further observation, and those without disorders are subsequently excluded. To study the efficacy of early detection procedures for developmental disorders, including autism, 2,814 children born in 1988, examined at 18 months of age, and not already receiving treatment for diseases or disorders were selected. In the extraction stage, 402 (14.3%) children were identified for follow-up. In the refinement stage, 19 (.7%) of these were referred to the Yokohama Rehabilitation Center and diagnosed with developmental disorders. The extraction stage produced four false negatives, bringing total diagnoses of developmental disorders to 23 (.8%) - including 5 with autistic disorder and 9 with pervasive developmental disorder - not otherwise specified (PDDNOS). Sensitivity was 60% for autistic disorder and 82.6% for developmental disorders. Specificity for developmental disorders rose to 100% with the E&R Strategy. Picture cards used in YACHT-18 provided a finer screen that excluded some false positive cases. An extraction and refinement methodology utilizing child health surveillance programs achieve high efficacy for early detection of autism.

Clinical Features of Children With Autism Who Passed 18-Month Screening.

PubMed

Øien, Roald A; Schjølberg, Synnve; Volkmar, Fred R; Shic, Frederick; Cicchetti, Domenic V; Nordahl-Hansen, Anders; Stenberg, Nina; Hornig, Mady; Havdahl, Alexandra; Øyen, Anne-Siri; Ventola, Pamela; Susser, Ezra S; Eisemann, Martin R; Chawarska, Katarzyna

2018-06-01

We compared sex-stratified developmental and temperamental profiles at 18 months in children screening negative for autism spectrum disorder (ASD) on the Modified Checklist for Autism in Toddlers (M-CHAT) but later receiving diagnoses of ASD (false-negative group) versus those without later ASD diagnoses (true-negative group). We included 68 197 screen-negative cases from the Norwegian Mother and Child Cohort Study (49.1% girls). Children were screened by using the 6 critical items of the M-CHAT at 18 months. Groups were compared on domains of the Ages and Stages Questionnaire and the Emotionality Activity Sociability Temperament Survey. Despite passing M-CHAT screening at 18 months, children in the false-negative group exhibited delays in social, communication, and motor skills compared with the true-negative group. Differences were more pronounced in girls. However, with regard to shyness, boys in the false-negative group were rated as more shy than their true-negative counterparts, but girls in the false-negative group were rated as less shy than their counterparts in the true-negative group. This is the first study to reveal that children who pass M-CHAT screening at 18 months and are later diagnosed with ASD exhibit delays in core social and communication areas as well as fine motor skills at 18 months. Differences appeared to be more pronounced in girls. With these findings, we underscore the need to enhance the understanding of early markers of ASD in boys and girls, as well as factors affecting parental report on early delays and abnormalities, to improve the sensitivity of screening instruments. Copyright © 2018 by the American Academy of Pediatrics.

Predicting Developmental Status from 12 to 24 Months in Infants at Risk for Autism Spectrum Disorder: A Preliminary Report

ERIC Educational Resources Information Center

Macari, Suzanne L.; Campbell, Daniel; Gengoux, Grace W.; Saulnier, Celine A.; Klin, Ami J.; Chawarska, Katarzyna

2012-01-01

The study examined whether performance profiles on individual items of the Toddler Module of the Autism Diagnostic Observation Schedule at 12 months are associated with developmental status at 24 months in infants at high and low risk for developing Autism Spectrum Disorder (ASD). A nonparametric decision-tree learning algorithm identified sets of…

Williams Syndrome and 15q Duplication: Coincidence versus Association.

PubMed

Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

2017-01-01

Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

Mice genetically depleted of brain serotonin display social impairments, communication deficits and repetitive behaviors: possible relevance to autism.

PubMed

Kane, Michael J; Angoa-Peréz, Mariana; Briggs, Denise I; Sykes, Catherine E; Francescutti, Dina M; Rosenberg, David R; Kuhn, Donald M

2012-01-01

Autism is a complex neurodevelopmental disorder characterized by impaired reciprocal social interaction, communication deficits and repetitive behaviors. A very large number of genes have been linked to autism, many of which encode proteins involved in the development and function of synaptic circuitry. However, the manner in which these mutated genes might participate, either individually or together, to cause autism is not understood. One factor known to exert extremely broad influence on brain development and network formation, and which has been linked to autism, is the neurotransmitter serotonin. Unfortunately, very little is known about how alterations in serotonin neuronal function might contribute to autism. To test the hypothesis that serotonin dysfunction can contribute to the core symptoms of autism, we analyzed mice lacking brain serotonin (via a null mutation in the gene for tryptophan hydroxylase 2 (TPH2)) for behaviors that are relevant to this disorder. Mice lacking brain serotonin (TPH2-/-) showed substantial deficits in numerous validated tests of social interaction and communication. These mice also display highly repetitive and compulsive behaviors. Newborn TPH2-/- mutant mice show delays in the expression of key developmental milestones and their diminished preference for maternal scents over the scent of an unrelated female is a forerunner of more severe socialization deficits that emerge in weanlings and persist into adulthood. Taken together, these results indicate that a hypo-serotonin condition can lead to behavioral traits that are highly characteristic of autism. Our findings should stimulate new studies that focus on determining how brain hyposerotonemia during critical neurodevelopmental periods can alter the maturation of synaptic circuits known to be mis-wired in autism and how prevention of such deficits might prevent this disorder.

The reliability and validity of the Greenspan Social Emotional Growth Chart (GSEGC) in Israeli children with developmental delay and autism-A pilot study.

PubMed

Tede, Zoma; Ophir Cohen, Michal; Riskin, Arieh; Tirosh, Emanuel

2016-08-01

Healthy social-emotional development in early childhood is important as an indicator of general well-being and for positive outcome in later childhood. Therefore, screening for potential social emotional problems is valuable. Accurate, usable, and affordable screening tools have been especially difficult to develop. The cross cultural validity of a screening instrument should be assessed. The aim of the current study was to investigate the reliability and validity of the Greenspan social-emotional growth chart (GSEGC) in Israeli children of three diagnostic groups: (1) Autistic spectrum disorder (ASD) (2) Developmental language disorder (DLD) and (3) Developmental motor delay (DMD). An internal reliability of alpha of 0.95 for the GSEGC standardized for age score and of 0.78 for the sensory processing sub scores was found. A confirmatory factor analysis (CFA) using a 5-factor model confirmed an acceptable fit. Positive (62.86%) and negative (94.73%) predictive values also support the clinical usefulness of the GSEGC in identifying children at low risk for ASD. The GSEGC appears to be a promising tool for the screening of social emotional problems in early childhood. Further studies in different cultures are warranted. Copyright © 2016 Elsevier Ltd. All rights reserved.

Correlates of specific childhood feeding problems.

PubMed

Field, D; Garland, M; Williams, K

2003-01-01

The correlates of specific childhood feeding problems are described to further examine possible predisposing factors for feeding problems. We report our experience with 349 participants evaluated by an interdisciplinary feeding team. A review of records was conducted and each participant was identified as having one or more of five functionally defined feeding problems: food refusal, food selectivity by type, food selectivity by texture, oral motor delays, or dysphagia. The prevalence of predisposing factors for these feeding problems was examined. Predisposing factors included developmental disabilities, gastrointestinal problems, cardiopulmonary problems, neurological problems, renal disease and anatomical anomalies. The frequencies of predisposing factors varied by feeding problem. Differences were found in the prevalence of the five feeding problems among children with three different developmental disabilities: autism, Down syndrome and cerebral palsy. Gastro-oesophageal reflux was the most prevalent condition found among all children in the sample and was the factor most often associated with food refusal. Neurological conditions and anatomical anomalies were highly associated with skill deficits, such as oral motor delays and dysphagia. Specific medical conditions and developmental disabilities are often associated with certain feeding problems. Information concerning predisposing factors of feeding problems can help providers employ appropriate primary, secondary and tertiary prevention measures to decrease the frequency or severity of some feeding problems.

The Developmental Sequence of Social-Communicative Skills in Young Children with Autism: A Longitudinal Study

ERIC Educational Resources Information Center

Wu, Chin-Chin; Chiang, Chung-Hsin

2014-01-01

To explore the different developmental trajectories of social-communicative skills in children with autism and typically developing infants, two longitudinal studies were conducted. In Study 1, we examined the developmental sequence of social-communicative skills in 26 typically developing infants when they were 9 months old and reexamined them…

Mechanisms of Developmental Regression in Autism and the Broader Phenotype: A Neural Network Modeling Approach

ERIC Educational Resources Information Center

Thomas, Michael S. C.; Knowland, Victoria C. P.; Karmiloff-Smith, Annette

2011-01-01

Loss of previously established behaviors in early childhood constitutes a markedly atypical developmental trajectory. It is found almost uniquely in autism and its cause is currently unknown (Baird et al., 2008). We present an artificial neural network model of developmental regression, exploring the hypothesis that regression is caused by…

Brief Report: Developmental Change in Theory of Mind Abilities in Children with Autism.

ERIC Educational Resources Information Center

Steele, Shelly; Joseph, Robert M.; Tager-Flusberg, Helen

2003-01-01

A longitudinal study investigated developmental change in theory of mind among 57 children (ages 4-14) with autism. Theory of mind tests were administered on an initial visit and one year later. Data indicated significant developmental improvement in theory of mind ability, which was primarily related to the children's language ability. (Contains…

The Development of Coordinated Communication in Infants at Heightened Risk for Autism Spectrum Disorder

PubMed Central

Parladé, Meaghan V.; Iverson, Jana M.

2015-01-01

This study evaluated the extent to which developmental change in coordination of social communication in early infancy differentiates children eventually diagnosed with ASD from those not likely to develop the disorder. A prospective longitudinal design was used to compare 9 infants at heightened risk for ASD (HR) later diagnosed with ASD, to 13 HR infants with language delay, 28 HR infants with no diagnosis, and 30 low risk infants. Hierarchical Linear Modeling (HLM) analyses revealed that ASD infants exhibited significantly slower growth in coordinations overall and in gestures coordinated with vocalizations, even relative to HR infants with language delay. Disruption in the development of gesture-vocalization coordinations may result in negative cascading effects that negatively impact later social and linguistic development. PMID:25689930

Effects of a parent-implemented Developmental Reciprocity Treatment Program for children with autism spectrum disorder.

PubMed

Gengoux, Grace W; Schapp, Salena; Burton, Sarah; Ardel, Christina M; Libove, Robin A; Baldi, Gina; Berquist, Kari L; Phillips, Jennifer M; Hardan, Antonio Y

2018-05-01

Developmental approaches to autism treatment aim to establish strong interpersonal relationships through joint play. These approaches have emerging empirical support; however, there is a need for further research documenting the procedures and demonstrating their effectiveness. This pilot study evaluated changes in parent behavior and child autism symptoms following a 12-week Developmental Reciprocity Treatment parent-training program. A total of 22 children with autism spectrum disorder between 2 and 6 years (mean age = 44.6 months, standard deviation = 12.7) and a primary caregiver participated in 12 weekly sessions of Developmental Reciprocity Treatment parent training, covering topics including introduction to developmental approaches, supporting attention and motivation, sensory regulation and sensory-social routines, imitation/building nonverbal communication, functional language development, and turn taking. Results indicated improvement in aspects of parent empowerment and social quality of life. Improvement in core autism symptoms was observed on the Social Responsiveness Scale total score (F(1,19): 5.550, p = 0.029), MacArthur-Bates Communicative Development Inventories number of words produced out of 680 (F(1,18): 18.104, p = 0.000), and two subscales of the Repetitive Behavior Scale, Revised (compulsive, p = 0.046 and restricted, p = 0.025). No differences in sensory sensitivity were observed on the Short Sensory Profile. Findings from this pilot study indicate that Developmental Reciprocity Treatment shows promise and suggest the need for future controlled trials of this developmentally based intervention.

An agenda for 21st century neurodevelopmental medicine: lessons from autism.

PubMed

Klin, A; Jones, W

2018-03-01

The future of neurodevelopmental medicine has the potential of situating child neurology at the forefront of a broad-based public health effort to optimize neurodevelopmental outcomes of children born with high-prevalence and diverse genetic, pre- and peri-natal, and environmental burdens compromising early brain development and leading to lifetime disabilities. Building on advancements in developmental social neuroscience and in implementation science, this shift is already occurring in the case of emblematic neurodevelopmental disorders such as autism. Capitalizing on early neuroplasticity and on quantification of trajectories of social-communicative development, new technologies are emerging for high-throughput and cost-effective diagnosis and for community-viable delivery of powerful treatments, in seamless integration across previously fragmented systems of healthcare delivery. These solutions could be deployed in the case of other groups of children at greater risk for autism and communication delays, such as those born extremely premature or with congenital heart disease. The galvanizing concept in this aspirational future is a public health focus on promoting optimal conditions for early brain development, not unlike current campaigns promoting pre-natal care, nutrition or vaccination.

Use of complementary and alternative medicine in children with autism and other developmental disabilities: associations with ethnicity, child comorbid symptoms, and parental stress.

PubMed

Valicenti-McDermott, Maria; Burrows, Bethany; Bernstein, Leora; Hottinger, Kathryn; Lawson, Katharine; Seijo, Rosa; Schechtman, Merryl; Shulman, Lisa; Shinnar, Shlomo

2014-03-01

The use of complementary and alternative medicine by children with autism and the association of its use with child comorbid symptoms and parental stress was studied in an ethnically diverse population, in a cross-sectional study with structured interviews. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included the Complementary and Alternative Medicine Questionnaire, Gastrointestinal Questionnaire, Children's Sleep Habits Questionnaire, Aberrant Behavior Checklist, and Parenting Stress Index. In this ethnically diverse sample, the use of complementary and alternative medicine was significantly higher for the autism group. In the autism group, use was significantly related to child's irritability, hyperactivity, food allergies, and parental stress; in the developmental disabilities group, there was no association with child comorbid symptoms or parental stress. The results contribute information to health care providers about families of children with autism who are more likely to use complementary and alternative medicine.

Development and Psychometric Evaluation of a Psychosocial Quality-of-Life Questionnaire for Individuals with Autism and Related Developmental Disorders

ERIC Educational Resources Information Center

Markowitz, Leslie A.; Reyes, Charina; Embacher, Rebecca A.; Speer, Leslie L.; Roizen, Nancy; Frazier, Thomas W.

2016-01-01

This study investigated the psychometric properties of the Child and Family Quality of Life scale, a measure of psychosocial quality of life in those with autism and related developmental disorders. Parents of 212 children suspected of autism spectrum disorder completed the Child and Family Quality of Life prior to a diagnostic evaluation. Results…

The Contribution of Prenatal Stress to the Pathogenesis of Autism as a Neurobiological Developmental Disorder: A Dizygotic Twin Study

ERIC Educational Resources Information Center

Claassen, M.; Naude, H.; Pretorius, E.; Bosman, M. C.

2008-01-01

This paper reports on the contribution of prenatal stress to the pathogenesis of autism as a neurobiological developmental disorder in a dizygotic study. The aim was to explore whether the neurobiological impact of stress prior to week 28 of gestation might be related to the pathogenesis of autism. The following data-generating strategies were…

Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, United States, 2006. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 58, Number SS-10

ERIC Educational Resources Information Center

Rice, Catherine

2009-01-01

Problem/Condition: Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by atypical development in socialization, communication, and behavior. ASDs typically are apparent before age 3 years, with associated impairments affecting multiple areas of a person's life. Because no biologic marker exists for ASDs,…

Autism Comes to the Hospital: The Experiences of Patients with Autism Spectrum Disorder, Their Parents and Health-Care Providers at Two Canadian Paediatric Hospitals

ERIC Educational Resources Information Center

Muskat, Barbara; Burnham Riosa, Priscilla; Nicholas, David B.; Roberts, Wendy; Stoddart, Kevin P.; Zwaigenbaum, Lonnie

2015-01-01

Youth with autism spectrum disorder are a vulnerable, often poorly understood patient group, who may experience periodic and chronic health challenges, in addition to their primary developmental social and communication problems. Developmental and behavioural challenges can complicate management of acute health-care needs. To date, there is an…

Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2008. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 61, Number 3

ERIC Educational Resources Information Center

Baio, Jon

2012-01-01

Problem/Condition: Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by impairments in social interaction and communication and by restricted, repetitive, and stereotyped patterns of behavior. Symptoms typically are apparent before age 3 years. The complex nature of these disorders, coupled with a lack of…

Risk factors of autistic symptoms in children with ADHD.

PubMed

Kröger, Anne; Hänig, Susann; Seitz, Christiane; Palmason, Haukur; Meyer, Jobst; Freitag, Christine M

2011-12-01

Autistic symptoms are frequently observed in children with attention-deficit/hyperactivity disorder (ADHD), but their etiology remains unclear. The main aim of this study was to describe risk factors for increased autistic symptoms in children with ADHD without an autism or autism-spectrum diagnosis. Comorbid psychiatric disorders, developmental delay, current medication, prenatal biological and postnatal psychosocial risk factors as well as parental autistic traits were assessed in 205 children with ADHD. Linear regression models identified maternal autistic traits, current familial risk factors and hyperactive symptoms as predictors of autistic symptoms in children with ADHD. Findings are indicative of possible genetic as well as environmental risk factors mediating autistic symptoms in children with ADHD. An additional validity analysis by ROC, area under the curve (AUC), suggested a cut-off of 11 to differentiate between ADHD and high-functioning ASD by the Social Communication Questionnaire (SCQ).

Android-Based Daily Routine Organizing Application for Elementary School Students Living with ASD.

PubMed

Barta, Eva A; Guzsvinecz, Tibor; Sik Lanyi, Cecilia; Szucs, Veronika

2017-01-01

Today, more and more children with Autism Spectrum disorder are diagnosed, which means that around 1% of the population is concerned. Most of the concerned can acquire daily routine tasks by a bit of help and can fit in the society. As Besio et al. said, "…play is an instinctive need for both humans….In children with disabilities, depending on the type of functional limitations, the spontaneity of play is lost and the activity becomes problematic. Children with cognitive and intellectual impairments have a difficulties in communication, social interactions,….Since play is also a window for children's cognitive development, children may be perceived as more developmentally delayed than they actually are, leading to reduce expectations on the part of adults." The aim of the authors was to create an Android based application which helps 6-9 year old children living with Autism Spectrum disorder to learn everyday tasks and acquire everyday routine.

Effects on communicative requesting and speech development of the Picture Exchange Communication System in children with characteristics of autism.

PubMed

Ganz, Jennifer B; Simpson, Richard L

2004-08-01

Few studies on augmentative and alternative communication (AAC) systems have addressed the potential for such systems to impact word utterances in children with autism spectrum disorders (ASD). The Picture Exchange Communication System (PECS) is an AAC system designed specifically to minimize difficulties with communication skills experienced by individuals with ASD. The current study examined the role of PECS in improving the number of words spoken, increasing the complexity and length of phrases, and decreasing the non-word vocalizations of three young children with ASD and developmental delays (DD) with related characteristics. Participants were taught Phases 1-4 of PECS (i.e., picture exchange, increased distance, picture discrimination, and sentence construction). The results indicated that PECS was mastered rapidly by the participants and word utterances increased in number of words and complexity of grammar.

Screening for Autism Spectrum Disorder in Young Children: US Preventive Services Task Force Recommendation Statement.

PubMed

Siu, Albert L; Bibbins-Domingo, Kirsten; Grossman, David C; Baumann, Linda Ciofu; Davidson, Karina W; Ebell, Mark; García, Francisco A R; Gillman, Matthew; Herzstein, Jessica; Kemper, Alex R; Krist, Alex H; Kurth, Ann E; Owens, Douglas K; Phillips, William R; Phipps, Maureen G; Pignone, Michael P

2016-02-16

New US Preventive Services Task Force (USPSTF) recommendation on screening for autism spectrum disorder (ASD) in young children. The USPSTF reviewed the evidence on the accuracy, benefits, and potential harms of brief, formal screening instruments for ASD administered during routine primary care visits and the benefits and potential harms of early behavioral treatment for young children identified with ASD through screening. This recommendation applies to children aged 18 to 30 months who have not been diagnosed with ASD or developmental delay and for whom no concerns of ASD have been raised by parents, other caregivers, or health care professionals. The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for ASD in young children for whom no concerns of ASD have been raised by their parents or a clinician. (I statement).

Trajectories of Early Brain Volume Development in Fragile X and Autism RH: Trajectory of Brain Volume in Fragile X

PubMed Central

Hazlett, Heather Cody; Poe, Michele D.; Lightbody, Amy A.; Styner, Martin; MacFall, James R.; Reiss, Allan L.; Piven, Joseph

2012-01-01

Objective To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared to a comparison group (controls) and a group with idiopathic autism. Method The study included 53 boys between 18–42 months of age with FXS, 68 boys with idiopathic autism (ASD), and a comparison group of 50 typically-developing and developmentally-delayed controls. We examined structural brain volumes using magnetic resonance imaging (MRI) across two timepoints between ages 2–3 and 4–5 years and examined total brain volumes and regional (lobar) tissue volumes. Additionally, we studied a selected group of subcortical structures implicated in the behavioral features of FXS (e.g., basal ganglia, hippocampus, amygdala). Results Children with FXS had greater global brain volumes compared to controls, but were not different than children with idiopathic autism, and the rate of brain growth between ages 2 and 5 paralleled that seen in controls. In contrast to the children with idiopathic autism who had generalized cortical lobe enlargement, the children with FXS showed a specific enlargement in temporal lobe white matter, cerebellar gray matter, and caudate nucleus, but significantly smaller amygdala. Conclusions This structural longitudinal MRI study of preschoolers with FXS observed generalized brain overgrowth in FXS compared to controls, evident at age 2 and maintained across ages 4–5. We also find different patterns of brain growth that distinguishes boys with FXS from children with idiopathic autism. PMID:22917205

Can Asperger syndrome be distinguished from autism? An anatomic likelihood meta-analysis of MRI studies

PubMed Central

Yu, Kevin K.; Cheung, Charlton; Chua, Siew E.; McAlonan, Gráinne M.

2011-01-01

Background The question of whether Asperger syndrome can be distinguished from autism has attracted much debate and may even incur delay in diagnosis and intervention. Accordingly, there has been a proposal for Asperger syndrome to be subsumed under autism in the forthcoming Diagnostic and Statistical Manual of Mental Disorders, fifth edition, in 2013. One approach to resolve this question has been to adopt the criterion of absence of clinically significant language or cognitive delay — essentially, the “absence of language delay.” To our knowledge, this is the first meta-analysis of magnetic resonance imaging (MRI) studies of people with autism to compare absence with presence of language delay. It capitalizes on the voxel-based morphometry (VBM) approach to systematically explore the whole brain for anatomic correlates of delay and no delay in language acquisition in people with autism spectrum disorders. Methods We conducted a systematic search for VBM MRI studies of grey matter volume in people with autism. Studies with a majority (at least 70%) of participants with autism diagnoses and a history of language delay were assigned to the autism group (n = 151, control n = 190). Those with a majority (at least 70%) of individuals with autism diagnoses and no language delay were assigned to the Asperger syndrome group (n = 149, control n = 214). We entered study coordinates into anatomic likelihood estimation meta-analysis software with sampling size weighting to compare grey matter summary maps driven by Asperger syndrome or autism. Results The summary autism grey matter map showed lower volumes in the cerebellum, right uncus, dorsal hippocampus and middle temporal gyrus compared with controls; grey matter volumes were greater in the bilateral caudate, prefrontal lobe and ventral temporal lobe. The summary Asperger syndrome map indicated lower grey matter volumes in the bilateral amygdala/hippocampal gyrus and prefrontal lobe, left occipital gyrus, right cerebellum, putamen and precuneus compared with controls; grey matter volumes were greater in more limited regions, including the bilateral inferior parietal lobule and the left fusiform gyrus. Both Asperger syndrome and autism studies reported volume increase in clusters in the ventral temporal lobe of the left hemisphere. Limitations We assigned studies to autism and Asperger syndrome groups for separate analyses of the data and did not carry out a direct statistical group comparison. In addition, studies available for analysis did not capture the entire spectrum, therefore we cannot be certain that our findings apply to a wider population than that sampled. Conclusion Whereas grey matter differences in people with Asperger syndrome compared with controls are sparser than those reported in studies of people with autism, the distribution and direction of differences in each category are distinctive. PMID:21406158

Can Asperger syndrome be distinguished from autism? An anatomic likelihood meta-analysis of MRI studies.

PubMed

Yu, Kevin K; Cheung, Charlton; Chua, Siew E; McAlonan, Gráinne M

2011-11-01

The question of whether Asperger syndrome can be distinguished from autism has attracted much debate and may even incur delay in diagnosis and intervention. Accordingly, there has been a proposal for Asperger syndrome to be subsumed under autism in the forthcoming Diagnostic and Statistical Manual of Mental Disorders, fifth edition, in 2013. One approach to resolve this question has been to adopt the criterion of absence of clinically significant language or cognitive delay--essentially, the "absence of language delay." To our knowledge, this is the first meta-analysis of magnetic resonance imaging (MRI) studies of people with autism to compare absence with presence of language delay. It capitalizes on the voxel-based morphometry (VBM) approach to systematically explore the whole brain for anatomic correlates of delay and no delay in language acquisition in people with autism spectrum disorders. We conducted a systematic search for VBM MRI studies of grey matter volume in people with autism. Studies with a majority (at least 70%) of participants with autism diagnoses and a history of language delay were assigned to the autism group (n = 151, control n = 190). Those with a majority (at least 70%) of individuals with autism diagnoses and no language delay were assigned to the Asperger syndrome group (n = 149, control n = 214). We entered study coordinates into anatomic likelihood estimation meta-analysis software with sampling size weighting to compare grey matter summary maps driven by Asperger syndrome or autism. The summary autism grey matter map showed lower volumes in the cerebellum, right uncus, dorsal hippocampus and middle temporal gyrus compared with controls; grey matter volumes were greater in the bilateral caudate, prefrontal lobe and ventral temporal lobe. The summary Asperger syndrome map indicated lower grey matter volumes in the bilateral amygdala/hippocampal gyrus and prefrontal lobe, left occipital gyrus, right cerebellum, putamen and precuneus compared with controls; grey matter volumes were greater in more limited regions, including the bilateral inferior parietal lobule and the left fusiform gyrus. Both Asperger syndrome and autism studies reported volume increase in clusters in the ventral temporal lobe of the left hemisphere. We assigned studies to autism and Asperger syndrome groups for separate analyses of the data and did not carry out a direct statistical group comparison. In addition, studies available for analysis did not capture the entire spectrum, therefore we cannot be certain that our findings apply to a wider population than that sampled. Whereas grey matter differences in people with Asperger syndrome compared with controls are sparser than those reported in studies of people with autism, the distribution and direction of differences in each category are distinctive. © 2011 Canadian Medical Association

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

PubMed Central

Schendel, Diana; DiGuiseppi, Carolyn; Croen, Lisa; Fallin, M Danielle; Reed, Philip L.; Schieve, Laura; Wiggins, Lisa; Daniels, Julie; Grether, Judith; Levy, Susan; Miller, Lisa; Newschaffer, Craig; Pinto-Martin, Jennifer; Robinson, Cordelia; Windham, Gayle; Alexander, Aimee; Aylsworth, Arthur; Bernal, Pilar; Bonner, Joseph D.; Blaskey, Lisa; Bradley, Chyrise; Collins, Jack; Ferretti, Casara; Farzadegan, Homayoon; Giarelli, Ellen; Harvey, Marques; Hepburn, Susan; Herr, Matthew; Kaparich, Kristina; Landa, Rebecca; Lee, Li-Ching; Levenseller, Brooke; Meyerer, Stacey; Rahbar, Mohammad H.; Ratchford, Andria; Reynolds, Ann; Rosenberg, Steve; Rusyniak, Julie; Shapira, Stuart K.; Smith, Karen; Souders, Margaret; AaronThompson, Patrick; Young, Lisa; Yeargin-Allsopp, Marshalyn

2015-01-01

The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case–control design with population-based ascertainment of children aged 2–5 years with an autism spectrum disorder (ASD) and children in two control groups—one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes. PMID:22350336

Autism Spectrum Disorder (ASD)

MedlinePlus

... Español (Spanish) Recommend on Facebook Tweet Share Compartir Autism spectrum disorder (ASD) is a developmental disability that ... key findings. ABOUT US Overview of CDC’s work. Autism: What's New MMWR article: Prevalence of Autism Spectrum ...

Psychometrics and utility of Psycho-Educational Profile-Revised as a developmental quotient measure among children with the dual disability of intellectual disability and autism.

PubMed

Alwinesh, Merlin Thanka Jemi; Joseph, Rachel Beulah Jansirani; Daniel, Anna; Abel, Julie Sandra; Shankar, Satya Raj; Mammen, Priya; Russell, Sushila; Russell, Paul Swamidhas Sudhakar

2012-09-01

There is no agreement about the measure to quantify the intellectual/developmental level in children with the dual disability of intellectual disability and autism. Therefore, we studied the psychometric properties and utility of Psycho-Educational Profile-Revised (PEP-R) as a developmental test in this population. We identified 116 children with dual disability from the day care and inpatient database of a specialised Autism Clinic. Scale and domain level scores of PEP-R were collected and analyzed. We examined the internal consistency, domain-total correlation of PEP-R and concurrent validity of PEP-R against Gesell's Developmental Schedule, inter-rater and test-retest reliability and utility of PEP-R among children with dual disability in different ages, functional level and severity of autism. Besides the adequate face and content validity, PEP-R demonstrates a good internal consistency (Cronbach's α ranging from 0.91 to 0.93) and domain-total correlation (ranging from 0.75 to 0.90). The inter-rater reliability (intraclass correlation coefficient, ICC = 0.96) and test-retest reliability (ICC = 0.87) for PEP-R is good. There is moderate-to-high concurrent validity with GDS (r ranging from 0.61 to 0.82; all Ps = 0.001). The utility of PEP-R as a developmental measure was good with infants, toddlers, pre-school and primary school children. The ability of PEP-R to measure the developmental age was good, irrespective of the severity of autism but was better with high-functioning children. The PEP-R as an intellectual/developmental test has strong psychometric properties in children with dual disability. It could be used in children with different age groups and severity of autism. PEP-R should be used with caution as a developmental test in children with dual disability who are low functioning.

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

PubMed

Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

2016-01-01

Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is <7 in 1000 children with ASD. The autism and control groups did not vary in terms of creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

Effect of Developmental Quotient on Symptoms of Inattention and Impulsivity among Toddlers with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Matson, Johnny L.; Mahan, Sara; Hess, Julie A.; Fodstad, Jill C.

2010-01-01

The effect of developmental quotient on symptoms of inattention and impulsivity was examined among 198 toddlers with Autism Spectrum Disorders. There were two levels of developmental quotient: (1) low (less than or equal to 70; n = 80), and (2) typical (greater than 70; n = 118). Symptoms of inattention and impulsivity were assessed using 14 items…

Self-injurious behaviours in children and adults with autism spectrum disorder (ASD).

PubMed

Gulsrud, A; Lin, C E; Park, M N; Hellemann, G; McCracken, J

2018-04-25

Self-injurious behaviours (SIB) are concerning, maladaptive behaviours that commonly occur in people with neurodevelopmental conditions and delays but seem to be particularly prevalent in children and adults with autism spectrum disorder (ASD). There has been increasing research examining the risk markers associated with the presence of SIB in people with ASD. Some of the factors associated with SIB have included cognitive abilities, adaptive functioning deficits and behaviour regulation impairments (e.g. impulsivity and repetitive behaviours). However, many of the findings in the literature are mixed and only explain a small proportion of the variance contributing to SIB. Limitations in the previous literature have centred on lack of availability of large and diverse samples, restricted age ranges and constraints of measurement. This study characterises a clinic-referred sample of children and adults currently presenting with and without SIB using a range of standardised and parent-report measures. The sample includes 144 individuals with ASD between the ages of 2.5 and 60.1 years. After adjusting for multiple tests, none of the variables maintained statistical significance between the group of individuals with and without SIB, but medium to large effect sizes were noted. These variables include parent-reported early motor and toileting delays and perinatal risk, and current cognitive and social impairment. The remaining variables, including current autism severity levels, early ASD symptomatology, impulsivity, executive functioning impairments, adaptive functioning, mood and anxiety, did not differ between those with and without current engagement in SIB. Utilising a diverse clinic-referred sample and standardised diagnostic tools, this study explored retrospective and current correlate risk markers of SIB in individuals with ASD. In addition to impairments in current functioning, specific early developmental delays and perinatal risk factors were preliminarily associated with the presence of SIB in individuals with ASD. Together these findings suggest that a set of specific characteristics may be related to both early risk and concurrent manifestation of SIB. Identifying this set of characteristics in early development may lead to faster identification and better intervention services, but future work utilising longitudinal design and multivariate analysis is warranted. © 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

Autism spectrum disorder - Asperger syndrome

MedlinePlus

... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...

Effects of serial and concurrent training on receptive identification tasks: A Systematic replication.

PubMed

Wunderlich, Kara L; Vollmer, Timothy R

2017-07-01

The current study compared the use of serial and concurrent methods to train multiple exemplars when teaching receptive language skills, providing a systematic replication of Wunderlich, Vollmer, Donaldson, and Phillips (2014). Five preschoolers diagnosed with developmental delays or autism spectrum disorders were taught to receptively identify letters or letter sounds. Subjects learned the target stimuli slightly faster in concurrent training and a high degree of generalization was obtained following both methods of training, indicating that both the serial and concurrent methods of training are efficient and effective instructional procedures. © 2017 Society for the Experimental Analysis of Behavior.

Should the DSM V drop Asperger syndrome?

PubMed

Ghaziuddin, Mohammad

2010-09-01

The DSM IV defines Asperger syndrome (AS) as a pervasive developmental (autistic spectrum) disorder characterized by social deficits and rigid focused interests in the absence of language impairment and cognitive delay. Since its inclusion in the DSM-IV, there has been a dramatic increase in its recognition both in children and adults. However, because studies have generally failed to demonstrate a clear distinction between AS and autism, some researchers have called for its elimination from the forthcoming DSM V. This report argues for a modification of its diagnostic criteria and its continued retention in the diagnostic manual.

Stability and change of cognitive attributes in children with uneven/delayed cognitive development from preschool through childhood.

PubMed

Yang, Pinchen; Lung, For-Wey; Jong, Yuh-Jyh; Hsu, Hsiu-Yi; Chen, Cheng-Chung

2010-01-01

As part of an ongoing clinical service program for children with developmental delay in an Asian developing country, we analyzed the cognitive attributes of 362 Taiwanese children (average age 48.5+/-12.9 month-old) with uneven/delayed cognitive development as they were assessed repeatedly with average duration of 39.7+/-22.6 months from preschool through early childhood. The objectives were to determine the stability and related factors in cognitive scores of these 362 children belonging to three diagnostic subgroups: 181 children with non-autistic mental retardation (MR), 95 children with autism spectrum disorder (ASD) and 64 children with mixed type developmental language disorder (DLD); and to contribute to the accumulation of data on cognitive outcome in preschool children with developmental delay. Analysis revealed that mean initial cognitive score (IQ1) was 64.9+/-16.9 while mean cognitive measure at follow-up (IQ2) was 72.2+/-19.7. Whole group analysis showed the correlation between IQ1 and IQ2 was moderate (r=0.73, p<0.001). Analysis by a general linear model showed only male gender (beta=4.95, p=0.02, C.I.=0.8-9.1) and IQ1 (beta=0.79, p<0.001, C.I.=0.68-0.90) to be significant predictors of IQ2. There were differences among three groups in IQ1 (p<0.001), IQ2 (p<0.001) and IQ change (p<0.001). Correlation coefficients of IQ1 and IQ2 were 0.6 for ASD group, 0.7 for MR group and 0.4 for DLD group respectively. The greatest proportion of children remained within the same cognitive range for both assessment points, however, it is noted that a substantial minority of children changed IQ ranges drastically from preschool through early childhood. Our results suggest that measurements of cognitive function at preschool age for children with developmental delay were valid in the context of a developing country, and the observed change in cognitive scores during follow-up emphasized the need to interpret the initial results of cognitive tests with caution.

Mutational Analysis of Cell Types in Tuberous Sclerosis Complex (TSC)

DTIC Science & Technology

2007-01-01

disorder resulting from mutations in the TSC1 or TSC2 genes that is associated with epilepsy, cognitive disability, and autism . TSC1/TSC2 gene mutations...cognitive disability, and autism . TSC1/TSC2 gene mutations lead to developmental alterations in brain structure known as tubers in over 80% of TSC...TSC (Sparagana and Roach, 2000). Comorbid neuropsychological disorders such as autism , mental retardation (MR), pervasive developmental disorder

Imitating actions on objects in early-onset and regressive autism: Effects and implications of task characteristics on performance

PubMed Central

Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

2010-01-01

This study was designed to examine the nature of object imitation performance in early autism. We hypothesized that imitation would be relatively preserved when behaviors on objects resulted in salient instrumental effects. We designed tasks in which, in one condition, the motor action resulted in a salient, meaningful effect on an object, whereas in the other condition, the same action resulted in a less salient effect because of differing object characteristics. The motor aspects of the tasks did not vary across conditions. Four participant groups of 2- to 5-year-olds were examined: 17 children with early-onset autism, 24 children with regressive onset autism, 22 children with developmental delays, and 22 children with typical development. Groups were matched on nonverbal skills, and differences in verbal development were examined as a moderator of imitative ability. Results revealed an interaction of group by condition, with the combined autism group failing more tasks than the combined comparison groups, and failing more tasks in the less salient condition than in the more salient condition, as hypothesized. Analyses of autism subgroups revealed these effects were primarily because of the regression onset group. Accuracy of motor performance was examined by analyzing errors. Among children passing imitative acts, there were no group differences and no condition effects in the number, type, or pattern of performance errors. Among children passing the tasks, the group with autism did not demonstrate more emulation errors (imitating the goal but not the means) than other groups. There was no evidence that either motor or attentional aspects of the tasks contributed to the poorer imitative performance of the children with autism. PMID:20102648

Neurodevelopmental behavioral and cognitive disorders.

PubMed

Jeste, Shafali Spurling

2015-06-01

Neurodevelopmental disorders are a group of heterogeneous conditions characterized by a delay or disturbance in the acquisition of skills in a variety of developmental domains, including motor, social, language, and cognition. This article reviews the most commonly diagnosed neurodevelopmental disorders, which include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, global developmental delay, and intellectual disability and also provides updates on diagnosis, neurobiology, treatment, and issues surrounding the transition to adulthood. Although symptoms emerge at discrete points in childhood, these disorders result from abnormal brain maturation that likely precedes clinical impairment. As a result, research has focused on the identification of predictive biological and behavioral markers, with the ultimate goal of initiating treatments that may either alter developmental trajectories or lessen clinical severity. Advances in the methods used to identify genetic variants, from chromosomal microarray analysis to whole exome sequencing, have facilitated the characterization of many genetic mutations and syndromes that share common pathways to abnormal circuit formation and brain development. Not only do genetic discoveries enrich our understanding of mechanisms underlying atypical development, but they also allow us to identify more homogeneous subgroups within this spectrum of conditions. Impairments do continue into adulthood, with challenges in the transition to adulthood including the management of comorbidities and the provision of educational and vocational supports. Advances in our understanding of the neurobiology and developmental trajectories of these disorders will pave the way for tremendous advances in treatment. Mechanism-based therapies for genetic syndromes are being studied with the goal of expanding targeted treatments to nonsyndromic forms of neurodevelopmental disorders.

Autism spectrum disorder - childhood disintegrative disorder

MedlinePlus

... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... ed. Arlington, VA: American Psychiatric Publishing: 2013;50-59. ...

Parent Beliefs about the Causes of Learning and Developmental Problems among Children with Autism Spectrum Disorder: Results from a National Survey

ERIC Educational Resources Information Center

Zuckerman, Katharine E.; Lindly, Olivia J.; Sinche, Brianna

2016-01-01

This study aimed to assess variation in parent beliefs about causes of learning and developmental problems in U.S. children with autism spectrum disorder, using data from a nationally representative survey. Results showed that beliefs about a genetic/hereditary cause of learning/developmental problems were most common, but nearly as many parents…

Outcomes and benefits of pediatric cochlear implantation in children with additional disabilities: a review and report of family influences on outcomes.

PubMed

Cejas, Ivette; Hoffman, Michael F; Quittner, Alexandra L

2015-01-01

The number of children with hearing loss with additional disabilities receiving cochlear implantation has increased dramatically over the past decade. However, little is known about their auditory and speech and language development following implantation. The purpose of this review is to evaluate the effects of cochlear implantation on the most common genetic and developmental disorders in children with hearing loss. Benefits of cochlear implantation for children with autism spectrum disorder, developmental delay, CHARGE syndrome, cerebral palsy, learning disorders, Usher syndrome, Waardenburg syndrome, and attention deficit/hyperactivity disorder are reviewed. Our review indicates that children with hearing loss and additional disabilities benefit from cochlear implantation, especially when implanted early. Thus, early interventions seem as important for these children as for deaf children without additional disabilities. Comparisons of outcomes across these disabilities indicate that children with little to no cognitive impairment (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, CHARGE syndrome). In addition, parents of children with hearing loss and additional disabilities report higher levels of parenting stress and greater child behavior problems than those without comorbid diagnoses. However, these parents are as sensitive when interacting with their children as parents with typically developing children using cochlear implantation. Given these results, it is critical to evaluate these children's developmental milestones to provide early implantation and intervention, appropriately counsel families regarding realistic expectations for the implant, and facilitate family adaptation.

Outcomes and benefits of pediatric cochlear implantation in children with additional disabilities: a review and report of family influences on outcomes

PubMed Central

Cejas, Ivette; Hoffman, Michael F; Quittner, Alexandra L

2015-01-01

The number of children with hearing loss with additional disabilities receiving cochlear implantation has increased dramatically over the past decade. However, little is known about their auditory and speech and language development following implantation. The purpose of this review is to evaluate the effects of cochlear implantation on the most common genetic and developmental disorders in children with hearing loss. Benefits of cochlear implantation for children with autism spectrum disorder, developmental delay, CHARGE syndrome, cerebral palsy, learning disorders, Usher syndrome, Waardenburg syndrome, and attention deficit/hyperactivity disorder are reviewed. Our review indicates that children with hearing loss and additional disabilities benefit from cochlear implantation, especially when implanted early. Thus, early interventions seem as important for these children as for deaf children without additional disabilities. Comparisons of outcomes across these disabilities indicate that children with little to no cognitive impairment (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, CHARGE syndrome). In addition, parents of children with hearing loss and additional disabilities report higher levels of parenting stress and greater child behavior problems than those without comorbid diagnoses. However, these parents are as sensitive when interacting with their children as parents with typically developing children using cochlear implantation. Given these results, it is critical to evaluate these children’s developmental milestones to provide early implantation and intervention, appropriately counsel families regarding realistic expectations for the implant, and facilitate family adaptation. PMID:29388595

Autism, an overwhelming condition: history, etiopathogenesis, types, diagnosis, therapy and prognosis.

PubMed

Amihăesei, Ioana Cristina; Stefanachi, Elena

2013-01-01

Autism is defined as a neurologic developmental disorder affecting brain and behavior, becoming usually apparent before 3 years of age, with stable evolution and no remission. No neurologic morphologic abnormality was associated with the disease. Several types of disease being described, autism is part of a larger spectrum known as autism spectrum disorders (ASD), or pervasive developmental disorders (PDD). The disease was first described long before it was defined and it has received its modern name. Main cause in the development of autism is considered to be genetic, up to 90 %. However, environmental factors could be incriminated, sometimes. The five types included in ASD are: Asperger syndrome, pervasive developmental disorder-not otherwise specified (PDD-NOS), typical autism, Rett syndrome and childhood disintegrative disorder (CDD). The classical triad of symptoms includes: social interaction impairments, communication impairments and repetitive, stereotype behavior. Diagnosis is based on interview of the parents and specialized observation of the suspected children. Main tools used in therapy are the family and the educational system. Well established, specialized programs of therapy were developed in time. Prognosis of autism is severe, since no cure is possible; nevertheless spontaneous recoveries do occur, in some cases.

Psychotherapy for Anxiety in Children With Autism Spectrum Disorder

ClinicalTrials.gov

2017-11-30

Autism Spectrum Disorders; Autism; Asperger's Syndrome; Pervasive Developmental Disability - Not Otherwise Specified; Obsessive-compulsive Disorder; Social Phobia; Generalized Anxiety Disorder; Specific Phobia; Separation Anxiety Disorder

Long-Term Aripiprazole in Youth with Developmental Disabilities Including Autism

ERIC Educational Resources Information Center

Hellings, Jessica A.; Boehm, Danna; Yeh, Hung Wen; Butler, Merlin G.; Schroeder, Stephen R.

2011-01-01

We retrospectively reviewed clinic charts of 21 children and adolescents with developmental disabilities including autism spectrum disorders (ASD) treated consecutively with aripiprazole (ARI) for irritability and severe challenging behaviors. Data extracted include age, sex, and race; level of intellectual disability (ID); "Diagnostic and…

Motor proficiency differences among students with intellectual disabilities, autism, and developmental disability

PubMed Central

Jeoung, Bogja

2018-01-01

There is considerable overlap in the manifestations of intellectual disability, autism, and developmental disability. We aimed to determine whether students with such disabilities have differences in their motor proficiency. We compared the motor proficiency of 82 students (age, 11 to 20 years) with different severities of intellectual disability (borderline, 11 students; mild, 27 students; moderate, 19 students), developmental disability (15 students), or autism (10 students). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition was used to assess motor skills. The data were analyzed using descriptive statistics, independent t-tests, and analysis of variance. Compared to students with borderline intellectual disabilities, mild intellectual disabilities, or autism, those with moderate intellectual disabilities scored significantly lower on al-most all items regarding motor skill on the Bruininks-Oseretsky Test of Motor Proficiency. The results of this study provide key information for developing exercise programs to improve the motor proficiency and quality of life of children with various developmental disorders. PMID:29740563

Motor proficiency differences among students with intellectual disabilities, autism, and developmental disability.

PubMed

Jeoung, Bogja

2018-04-01

There is considerable overlap in the manifestations of intellectual disability, autism, and developmental disability. We aimed to determine whether students with such disabilities have differences in their motor proficiency. We compared the motor proficiency of 82 students (age, 11 to 20 years) with different severities of intellectual disability (borderline, 11 students; mild, 27 students; moderate, 19 students), developmental disability (15 students), or autism (10 students). The Bruininks-Oseretsky Test of Motor Proficiency, Second edition was used to assess motor skills. The data were analyzed using descriptive statistics, independent t -tests, and analysis of variance. Compared to students with borderline intellectual disabilities, mild intellectual disabilities, or autism, those with moderate intellectual disabilities scored significantly lower on al-most all items regarding motor skill on the Bruininks-Oseretsky Test of Motor Proficiency. The results of this study provide key information for developing exercise programs to improve the motor proficiency and quality of life of children with various developmental disorders.

Delayed Self-Recognition in Autism: A Unique Difficulty?

ERIC Educational Resources Information Center

Dunphy-Lelii, Sarah; Wellman, Henry M.

2012-01-01

Achieving a sense of self is a crucial task of ordinary development. With which aspects of self do children with autism have particular difficulty? Two prior studies concluded that children with autism are unimpaired in delayed self-recognition; we confirm and clarify this conclusion by examining it in conjunction with another key aspect of self…

The developmental disruptions of serotonin signaling may involved in autism during early brain development.

PubMed

Yang, C-J; Tan, H-P; Du, Y-J

2014-05-16

Autism is a developmental disorder defined by the presence of a triad of communication, social and stereo typical behavioral characteristics with onset before 3years of age. In spite of the fact that there are potential environmental factors for autistic behavior, the dysfunction of serotonin during early development of the brain could be playing a role in this prevalence rise. Serotonin can modulate a number of developmental events, including cell division, neuronal migration, cell differentiation and synaptogenesis. Hyperserotonemia during fetal development results in the loss of serotonin terminals through negative feedback. The increased serotonin causes a decrease of oxytocin in the paraventricular nucleus of the hypothalamus and an increase in calcitonin gene-related peptide (CGRP) in the central nucleus of the amygdale, which are associated with social interactions and vital in autism. However, hyposerotonemia may be also relevant to the development of sensory as well as motor and cognitive faculties. And the paucity of placenta-derived serotonin should have potential importance when the pathogenesis of autism is considered. This review briefly summarized the developmental disruptions of serotonin signaling involved in the pathogenesis of autism during early development of the brain. Copyright © 2014 IBRO. Published by Elsevier Ltd. All rights reserved.

Children with Autism in Ethiopia: Diagnosis, Laws, and Educational and Behavioral Intervention

ERIC Educational Resources Information Center

Zeleke, Waganesh

2015-01-01

Since the late 1990s, the law, education, and intervention regarding childhood developmental disorders in Ethiopia have experienced significant reforms and development. However, education and intervention for children with severe developmental disabilities, especially children with autism spectrum disorders (ASD), still suffer the greatest…

The First Year Inventory: a longitudinal follow-up of 12-month-old to 3-year-old children.

PubMed

Turner-Brown, Lauren M; Baranek, Grace T; Reznick, J Steven; Watson, Linda R; Crais, Elizabeth R

2013-09-01

The First Year Inventory is a parent-report measure designed to identify 12-month-old infants at risk for autism spectrum disorder. First Year Inventory taps behaviors that indicate risk in the developmental domains of sensory-regulatory and social-communication functioning. This longitudinal study is a follow-up of 699 children at 3 years of age from a community sample whose parents completed the First Year Inventory when their children were 12 months old. Parents of all 699 children completed the Social Responsiveness Scale-Preschool version and the Developmental Concerns Questionnaire to determine age 3 developmental outcomes. In addition, children deemed at risk for autism spectrum disorder based on liberal cut points on the First Year Inventory, Social Responsiveness Scale-Preschool, and/or Developmental Concerns Questionnaire were invited for in-person diagnostic evaluations. We found 9 children who had a confirmed diagnosis of autism spectrum disorder from the sample of 699. Receiver operating characteristic analyses determined that a two-domain cutoff score yielded optimal classification of children: 31% of those meeting algorithm cutoffs had autism spectrum disorder and 85% had a developmental disability or concern by age 3. These results suggest that the First Year Inventory is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of autism spectrum disorder.

Autism: Clinical and Research Issues.

ERIC Educational Resources Information Center

Accardo, Pasquale J., Ed.; Magnusen, Christy, Ed.; Capute, Arnold J., Ed.

This text examines the characteristics that define autism: impairments in communication; abnormal social development; and clinically significant odd behaviors. Specific chapters include: (1) Neural Mechanisms in Autism (Andrew W. Zimmerman and Barry Gordon); (2) Epidemiology of Autism and Other Pervasive Developmental Disorders: Current…

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

PubMed

Basuta, Kirin; Schneider, Andrea; Gane, Louise; Polussa, Jonathan; Woodruff, Bryan; Pretto, Dalyir; Hagerman, Randi; Tassone, Flora

2015-09-01

Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of autism spectrum disorders. Carriers of a premutation (55-200 CGG repeats) are generally not severely affected early in life; however, are at high risk of developing the late onset neurodegenerative disorder, Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), or Fragile X-associated Primary Ovarian Insufficiency (FXPOI), and may have other medical conditions such as developmental delay, autism spectrum disorders, hypertension, anxiety, and immune-mediated disorders. Here we present a case of a 58-year-old man with a borderline IQ, average memory skills, and executive function deficits. He met criteria for multiple psychiatric diagnoses and presented with tremor and ataxia, meeting criteria for FXTAS. Molecular testing unveiled a completely unmethylated FMR1 full mutation in peripheral blood mononucleated cells with elevated FMR1 mRNA and premutation alleles of different sizes in two other tissues (primary fibroblasts and sperm), indicating the presence of allele instability based on both inter- and intra-tissue mosaicism. The observation of FXTAS in this case of a full mutation mosaic man suggests that the pathogenic mechanism underlying this disorder is not observed exclusively in premutation carriers as it was originally thought. The concomitant presence of features of FXS and late onset neurological deterioration with probable FXTAS likely result from a combined molecular pathology of elevated FMR1 mRNA levels, a molecular hallmark of FXTAS and low FMRP expression that leads to FXS. © 2015 Wiley Periodicals, Inc.

Autism and Classical Eyeblink Conditioning: Performance Changes of the Conditioned Response Related to Autism Spectrum Disorder Diagnosis

PubMed Central

Welsh, John P.; Oristaglio, Jeffrey T.

2016-01-01

Changes in the timing performance of conditioned responses (CRs) acquired during trace and delay eyeblink conditioning (EBC) are presented for diagnostic subgroups of children having autism spectrum disorder (ASD) aged 6–15 years. Children diagnosed with autistic disorder (AD) were analyzed separately from children diagnosed with either Asperger’s syndrome or Pervasive developmental disorder (Asp/PDD) not otherwise specified and compared to an age- and IQ-matched group of children who were typically developing (TD). Within-subject and between-groups contrasts in CR performance on sequential exposure to trace and delay EBC were analyzed to determine whether any differences would expose underlying functional heterogeneities of the cerebral and cerebellar systems, in ASD subgroups. The EBC parameters measured were percentage CRs, CR onset latency, and CR peak latency. Neither AD nor Asp/PDD groups were impaired in CR acquisition during trace or delay EBC. Both AD and Asp/PDD altered CR timing, but not always in the same way. Although the AD group showed normal CR timing during trace EBC, the Asp/PDD group showed a significant 27 and 28 ms increase in CR onset and peak latency, respectively, during trace EBC. In contrast, the direction of the timing change was opposite during delay EBC, during which the Asp/PDD group showed a significant 29 ms decrease in CR onset latency and the AD group showed a larger 77 ms decrease in CR onset latency. Only the AD group showed a decrease in CR peak latency during delay EBC, demonstrating another difference between AD and Asp/PDD. The difference in CR onset latency during delay EBC for both AD and Asp/PDD was due to an abnormal prevalence of early onset CRs that were intermixed with CRs having normal timing, as observed both in CR onset histograms and mean CR waveforms. In conclusion, significant heterogeneity in EBC performance was apparent between diagnostic groups, and this may indicate that EBC performance can report the heterogeneity in the neurobiological predispositions for ASD. The findings will inform further explorations with larger cohorts, different sensory modalities, and different EBC paradigms and provide a reference set for future EBC studies of children having ASD and non-human models. PMID:27563293

Preparing Tomorrow's Doctors to Care for Patients with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Havercamp, Susan M.; Ratliff-Schaub, Karen; Macho, Patricia Navas; Johnson, Cherelle N.; Bush, Kelsey L.; Souders, Heather T.

2016-01-01

People with autism spectrum disorder (ASD) and other developmental disabilities have poorer health and face unique barriers to health care compared to people without disabilities. These health disparities can be partially attributed to physicians' limited knowledge about caring for patients with developmental disabilities. The purpose of this…

Parent Perceptions of an Adapted Evidence-Based Practice for Toddlers with Autism in a Community Setting

ERIC Educational Resources Information Center

Stahmer, Aubyn C.; Brookman-Frazee, Lauren; Rieth, Sarah R.; Stoner, Julia Trigeiro; Feder, Joshua D.; Searcy, Karyn; Wang, Tiffnay

2016-01-01

Although data from parent-implemented Naturalistic Developmental Behavioral Interventions have shown positive effects on decreasing core symptoms of autism, there has been limited examination of the effectiveness of Naturalistic Developmental Behavioral Interventions in community settings. In addition, parent perspectives of their involvement in…

Parent Perceptions of an Adapted Evidence-Based Practice for Toddlers with Autism in a Community Setting

ERIC Educational Resources Information Center

Stahmer, Aubyn C.; Brookman-Frazee, Lauren; Rieth, Sarah R.; Stoner, Julia Trigeiro; Feder, Joshua D.; Searcy, Karyn; Wang, Tiffany

2017-01-01

Although data from parent-implemented Naturalistic Developmental Behavioral Interventions have shown positive effects on decreasing core symptoms of autism, there has been limited examination of the effectiveness of Naturalistic Developmental Behavioral Interventions in community settings. In addition, parent perspectives of their involvement in…

Sex Differences in Toddlers with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Carter, Alice S.; Black, David O.; Tewani, Sonia; Connolly, Christine E.; Kadlec, Mary Beth; Tager-Flusberg, Helen

2007-01-01

Although autism spectrum disorders (ASD) prevalence is higher in males than females, few studies address sex differences in developmental functioning or clinical manifestations. Participants in this study of sex differences in developmental profiles and clinical symptoms were 22 girls and 68 boys with ASD (mean age = 28 months). All children…

Predictors of Self-Injurious Behaviour Exhibited by Individuals with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Richman, D. M.; Barnard-Brak, L.; Bosch, A.; Thompson, S.; Grubb, L.; Abby, L.

2013-01-01

Background: Presence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific…

Pragmatic Impairments in Adults with Childhood Diagnoses of Autism or Developmental Receptive Language Disorder.

ERIC Educational Resources Information Center

Eales, Martin J.

1993-01-01

Analysis of conversations of 15 adults with autism and 17 with developmental receptive language disorders in childhood indicated that the autistic adults showed greater pragmatic impairment because of their greater difficulty in forming context-relevant communicative intentions. Pragmatic impairments arising from failures in translating intentions…

A girl with tuberous sclerosis complex presenting with severe epilepsy and electrical status epilepticus during sleep, and with high-functioning autism and mutism.

PubMed

Pacheva, Iliyana; Panov, Georgi; Gillberg, Christopher; Neville, Brian

2014-06-01

Most patients with tuberous sclerosis complex (TSC) suffer from epilepsy, and many have cognitive and behavioral problems like severe intellectual disability, autism, and hyperactivity. Only rare patients with TSC and autism have a normal intelligence quotient. We report a 13-year-old girl with definite TSC who had early-onset severe epilepsy, autistic behavior, and moderate developmental delay. By school age, however, she had normal intelligence; her intelligence quotient was at least 70 based on a Stanford-Binet test that she refused to complete. She showed good reading, writing, and language comprehension skills, and the special abilities of hyperlexia, hypermnesia, and hypercalculia. However, she did not speak. Criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, and her Childhood Autism Rating Scale score of 36 indicated mild to moderate autism. She had severe electroencephalographic abnormalities: hypsarrhythmia, multifocal or generalized epileptiform discharges, and electrical status epilepticus during sleep, with a continuous left temporal focus. Magnetic resonance imaging showed many cortical tubers in all brain lobes, and subependymal nodules. We discuss possible explanations for her lack of speech. Considered as speech apraxia, her mutism could be either a symptom of her TSC or a component of her autism. Another possibility is that long-lasting electrical status epilepticus during sleep led to her autistic behavior and language arrest. Still another possibility is that a disinhibited mammalian target of rapamycin (mTOR) pathway was at the root of all of her neuropsychiatric symptoms.

Auditory evoked fields predict language ability and impairment in children.

PubMed

Oram Cardy, Janis E; Flagg, Elissa J; Roberts, Wendy; Roberts, Timothy P L

2008-05-01

Recent evidence suggests that a subgroup of children with autism show similarities to children with Specific Language Impairment (SLI) in the pattern of their linguistic impairments, but the source of this overlap is unclear. We examined the ability of auditory evoked magnetic fields to predict language and other developmental abilities in children and adolescents. Following standardized assessment of language ability, nonverbal IQ, and autism-associated behaviors, 110 trails of a tone were binaurally presented to 45 7-18 year olds who had typical development, autism (with LI), Asperger Syndrome (i.e., without LI), or SLI. Using a 151-channel MEG system, latency of left hemisphere (LH) and right hemisphere (RH) auditory M50 and M100 peaks was recorded. RH M50 latency (and to a lesser extent, RH M100 latency) predicted overall oral language ability, accounting for 36% of the variance. Nonverbal IQ and autism behavior ratings were not predicted by any of the evoked fields. Latency of the RH M50 was the best predictor of clinical LI (i.e., irrespective of autism diagnosis), and demonstrated 82% accuracy in predicting Receptive LI; a cutoff of 84.6 ms achieved 92% specificity and 70% sensitivity in classifying children with and without Receptive LI. Auditory evoked responses appear to reflect language functioning and impairment rather than non-specific brain (dys)function (e.g., IQ, behavior). RH M50 latency proved to be a relatively useful indicator of impaired language comprehension, suggesting that delayed auditory perceptual processing in the RH may be a key neural dysfunction underlying the overlap between subgroups of children with autism and SLI.

Autism: maternally derived antibodies specific for fetal brain proteins.

PubMed

Braunschweig, Daniel; Ashwood, Paul; Krakowiak, Paula; Hertz-Picciotto, Irva; Hansen, Robin; Croen, Lisa A; Pessah, Isaac N; Van de Water, Judy

2008-03-01

Autism is a profound disorder of neurodevelopment with poorly understood biological origins. A potential role for maternal autoantibodies in the etiology of some cases of autism has been proposed in previous studies. To investigate this hypothesis, maternal plasma antibodies against human fetal and adult brain proteins were analyzed by western blot in 61 mothers of children with autistic disorder and 102 controls matched for maternal age and birth year (62 mothers of typically developing children (TD) and 40 mothers of children with non-ASD developmental delays (DD)). We observed reactivity to two protein bands at approximately 73 and 37kDa in plasma from 7 of 61 (11.5%) mothers of children with autism (AU) against fetal but not adult brain, which was not noted in either control group (TD; 0/62 p=0.0061 and DD; 0/40 p=0.0401). Further, the presence of reactivity to these two bands was associated with parent report of behavioral regression in AU children when compared to the TD (p=0.0019) and DD (0.0089) groups. Individual reactivity to the 37kDa band was observed significantly more often in the AU population compared with TD (p=0.0086) and DD (p=0.002) mothers, yielding a 5.69-fold odds ratio (95% confidence interval 2.09-15.51) associated with this band. The presence of these antibodies in the plasma of some mothers of children with autism, as well as the differential findings between mothers of children with early onset and regressive autism may suggest an association between the transfer of IgG autoantibodies during early neurodevelopment and the risk of developing of autism in some children.

The Relation between Social Engagement and Pretend Play in Autism

ERIC Educational Resources Information Center

Hobson, Jessica A.; Hobson, R. Peter; Malik, Supriya; Bargiota, Kyratso; Calo, Susana

2013-01-01

The focus of this study is the nature and concomitants of pretend play among young children with autism. Age- and language-matched children with autism ("n"= 27), autism spectrum disorder ("n"= 14), and developmental disorders without autism ("n"= 16) were administered the Test of Pretend Play (ToPP; Lewis &…

Changes in the Population of Persons with Autism and Pervasive Developmental Disorders in California's Developmental Services System: 1987 through 1998. A Report to the Legislature, March 1, 1999.

ERIC Educational Resources Information Center

California State Dept. of Developmental Services, Sacramento.

This report discusses the results of an analysis of demographic and Client Development Evaluation Record data compiled at each of the 21 regional centers in California serving individuals with autism and pervasive developmental disorders. Data covering a period of 11 years, beginning in January 1987 and continuing through December 1998, show that…

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.

Autism Assets

ERIC Educational Resources Information Center

Sarahan, Neal; Copas, Randy

2014-01-01

The Center for Disease Control estimates that 1 in 88 children have been identified with autism (CDC, 2012). Autism is often associated with other psychiatric, developmental, neurological, and genetic diagnoses. However, the majority (62%) of children identified on the autism spectrum do not have intellectual disability. Instead, they are hurting.…

Effects of a Social Story Intervention with a Modified Perspective Sentence on Preschool-Age Children with Autism

ERIC Educational Resources Information Center

Krasch, Delilah Jean

2013-01-01

Young children with autism often experience delays in social skills and social competence. These delays result in poor relationships and decreased social interactions and engagement, and eventually, social isolation and withdrawal. Social skills deficits are also correlated to behavioral and emotional difficulties. Addressing these delays is…

A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome.

PubMed

Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H; Thomas, Michael S C

2009-04-01

We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely been studied in this context. The four disorder groups were compared with typically developing children. Cross-sectional trajectory analyses were used to compare development in a modified version of Tanaka and Farah's part-whole task. Trajectories were constructed linking part-whole performance either to chronological age or to several measures of mental age (receptive vocabulary, visuospatial construction, and the Benton Facial Recognition Test). In addition to variable delays in onset and rate of development, we found an atypical profile in all disorder groups. These profiles were atypical in different ways, indicating multiple pathways to, and variable outcomes in, the development of face recognition. We discuss the implications for theories of face recognition in both atypical and typical development, including the idea that part-whole and rotation manipulations may tap different aspects of holistic and/or configural processing.

Specialized Inpatient Psychiatry Units for Children with Autism and Developmental Disorders: A United States Survey

ERIC Educational Resources Information Center

Siegel, Matthew; Doyle, Kathleen; Chemelski, Bruce; Payne, David; Ellsworth, Beth; Harmon, Jamie; Robbins, Douglas; Milligan, Briana; Lubetsky, Martin

2012-01-01

A cross sectional survey was performed to obtain the characteristics of specialized inpatient psychiatry units exclusively serving children with autism and other developmental disorders in the United States. Identified units were surveyed on basic demographic characteristics, clinical challenges and therapeutic modalities. Average length of stay…

Evolving Definitions of Autism and Impact on Eligibility for Developmental Disability Services: California Case Example

ERIC Educational Resources Information Center

Williams, Marian E.; Wheeler, Barbara Y.; Linder, Lisa; Jacobs, Robert A.

2017-01-01

When establishing eligibility for developmental disability (DD) services, definitions of specific diagnostic conditions, such as autism, impact policy. Under the Medicaid home and community-based waiver program, states have discretion in determining specific program or service eligibility criteria, the nature of supports to be provided, and the…

Developmental Regression and Autism Reported to the Vaccine Adverse Event Reporting System

ERIC Educational Resources Information Center

Woo, Emily Jane; Ball, Robert; Landa, Rebecca; Zimmerman, Andrew W.; Braun, M. Miles

2007-01-01

We report demographic and clinical characteristics of children reported to the US Vaccine Adverse Event Reporting System (VAERS) as having autism or another developmental disorder after vaccination. We completed 124 interviews with parents and reviewed medical records for 31 children whose records contained sufficient information to evaluate the…

A Test of Motor (Not Executive) Planning in Developmental Coordination Disorder and Autism

ERIC Educational Resources Information Center

van Swieten, Lisa M.; van Bergen, Elsje; Williams, Justin H. G.; Wilson, Andrew D.; Plumb, Mandy S.; Kent, Samuel W.; Mon-Williams, Mark A.

2010-01-01

Grip selection tasks have been used to test "planning" in both autism and developmental coordination disorder (DCD). We differentiate between "motor" and "executive" planning and present a modified motor planning task. Participants grasped a cylinder in 1 of 2 orientations before turning it clockwise or anticlockwise.…

Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample

ERIC Educational Resources Information Center

Parr, Jeremy R.; Le Couteur, Ann; Baird, Gillian; Rutter, Michael; Pickles, Andrew; Fombonne, Eric; Bailey, Anthony J.

2011-01-01

The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred…

Sleep Disturbances in Adults with Autism Spectrum Disorders and Severe Intellectual Impairments

ERIC Educational Resources Information Center

Matson, Johnny L.; Ancona, Martin N.; Wilkins, Jonathan

2008-01-01

Sleep disturbances are a significant problem for persons with developmental disabilities. These problems occur at a higher rate than what is observed in the typically developing population, and persons with Autism Spectrum Disorders (ASD) appear to be at a higher risk than individuals with other developmental disabilities. However, another major…

Corpus Callosum Area in Children and Adults with Autism

ERIC Educational Resources Information Center

Prigge, Molly B. D.; Lange, Nicholas; Bigler, Erin D.; Merkley, Tricia L.; Neeley, E. Shannon; Abildskov, Tracy J.; Froehlich, Alyson L.; Nielsen, Jared A.; Cooperrider, Jason R.; Cariello, Annahir N.; Ravichandran, Caitlin; Alexander, Andrew L.; Lainhart, Janet E.

2013-01-01

Despite repeated findings of abnormal corpus callosum structure in autism, the developmental trajectories of corpus callosum growth in the disorder have not yet been reported. In this study, we examined corpus callosum size from a developmental perspective across a 30-year age range in a large cross-sectional sample of individuals with autism…

Caregiver Strain and Sensory Features in Children with Autism Spectrum Disorder and Other Developmental Disabilities

ERIC Educational Resources Information Center

Kirby, Anne V.; White, Tamira J.; Baranek, Grace T.

2015-01-01

Caring for children with disabilities contributes to increased levels of parent stress or caregiver strain. However, the potential relationship of sensory features to strain among caregivers of children with autism spectrum disorder (ASD) and other developmental disabilities (DD) is unknown. Sensory features include overreactions, underreactions,…

Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study

ERIC Educational Resources Information Center

Losh, Molly; Martin, Gary E.; Lee, Michelle; Klusek, Jessica; Sideris, John; Barron, Sheila; Wassink, Thomas

2017-01-01

Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of…

Positive Motivational Strategies for Children with Autism and Other Developmental Disabilities.

ERIC Educational Resources Information Center

Higbee, Thomas S.; Hager, Karen D.

This paper explains the brief stimulus preference procedure (SPA), which is designed to identify efficiently the effective reinforcers for children with autism and other developmental disabilities. SPA involves presenting the child with four items he/she generally responds well to plus one new item. After allowing the child to pick his preferred…

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.

PubMed

Cameron, Jessie M; Levandovskiy, Valeriy; Roberts, Wendy; Anagnostou, Evdokia; Scherer, Stephen; Loh, Alvin; Schulze, Andreas

2017-07-31

Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase ( GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase ( GAMT gene), and creatine transporter deficiency ( SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism. The objective of the study was to test the hypothesis that genetic variability in creatine metabolism genes is associated with autism. We sequenced GATM , GAMT and SLC6A8 genes in 166 patients with autism (coding sequence, introns and adjacent untranslated regions). A total of 29, 16 and 25 variants were identified in each gene, respectively. Four variants were novel in GATM , and 5 in SLC6A8 (not present in the 1000 Genomes, Exome Sequencing Project (ESP) or Exome Aggregation Consortium (ExAC) databases). A single variant in each gene was identified as non-synonymous, and computationally predicted to be potentially damaging. Nine variants in GATM were shown to have a lower minor allele frequency (MAF) in the autism population than in the 1000 Genomes database, specifically in the East Asian population (Fisher's exact test). Two variants also had lower MAFs in the European population. In summary, there were no apparent associations of variants in GAMT and SLC6A8 genes with autism. The data implying there could be a lower association of some specific GATM gene variants with autism is an observation that would need to be corroborated in a larger group of autism patients, and with sub-populations of Asian ethnicities. Overall, our findings suggest that the genetic variability of creatine synthesis/transport is unlikely to play a part in the pathogenesis of autism spectrum disorder (ASD) in children.

Differential Associations between Sensory Response Patterns and Language, Social, and Communication Measures in Children with Autism or Other Developmental Disabilities

PubMed Central

Watson, Linda R.; Patten, Elena; Baranek, Grace T.; Poe, Michele; Boyd, Brian A.; Freuler, Ashley; Lorenzi, Jill

2012-01-01

Purpose Examine patterns of sensory responsiveness (i.e., hyperresponsiveness, hyporesponsiveness, and sensory seeking) as factors that may account for variability in social-communicative symptoms of autism and variability in language, social, and communication skill development in children with autism or other developmental disabilities. Method Children with autistic disorder (AD; n = 72, mean age = 52.3 months) and other developmental disabilities (DD; n = 44, mean age = 48.1 months) participated in a protocol measuring sensory response patterns, social-communicative symptoms of autism, and language, social, and communication skills. Results Hyporesponsiveness was positively associated with social-communicative symptom severity, with no significant group difference in the association. Hyperresponsiveness was not significantly associated with social-communicative symptom severity. A group difference emerged for sensory seeking and social-communicative symptom severity, with a positive association for the AD group only. For the two groups of children combined, hyporesponsiveness was negatively associated with language skills and social adaptive skills. Sensory seeking also was negatively associated with language skills. These associations did not differ between the two groups. Conclusions Aberrant sensory processing may play an important role in the pathogenesis of autism and other developmental disabilities, as well as in the rate of acquisition of language, social, and communication skills. PMID:21862675

45 CFR 1308.15 - Eligibility criteria: Autism.

Code of Federal Regulations, 2014 CFR

2014-10-01

... 45 Public Welfare 4 2014-10-01 2014-10-01 false Eligibility criteria: Autism. 1308.15 Section 1308... Services Performance Standards § 1308.15 Eligibility criteria: Autism. A child is classified as having autism when the child has a developmental disability that significantly affects verbal and non-verbal...

45 CFR 1308.15 - Eligibility criteria: Autism.

Code of Federal Regulations, 2012 CFR

2012-10-01

... 45 Public Welfare 4 2012-10-01 2012-10-01 false Eligibility criteria: Autism. 1308.15 Section 1308... Services Performance Standards § 1308.15 Eligibility criteria: Autism. A child is classified as having autism when the child has a developmental disability that significantly affects verbal and non-verbal...

45 CFR 1308.15 - Eligibility criteria: Autism.

Code of Federal Regulations, 2013 CFR

2013-10-01

... 45 Public Welfare 4 2013-10-01 2013-10-01 false Eligibility criteria: Autism. 1308.15 Section 1308... Services Performance Standards § 1308.15 Eligibility criteria: Autism. A child is classified as having autism when the child has a developmental disability that significantly affects verbal and non-verbal...

45 CFR 1308.15 - Eligibility criteria: Autism.

Code of Federal Regulations, 2010 CFR

2010-10-01

... 45 Public Welfare 4 2010-10-01 2010-10-01 false Eligibility criteria: Autism. 1308.15 Section 1308... Services Performance Standards § 1308.15 Eligibility criteria: Autism. A child is classified as having autism when the child has a developmental disability that significantly affects verbal and non-verbal...

45 CFR 1308.15 - Eligibility criteria: Autism.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 45 Public Welfare 4 2011-10-01 2011-10-01 false Eligibility criteria: Autism. 1308.15 Section 1308... Services Performance Standards § 1308.15 Eligibility criteria: Autism. A child is classified as having autism when the child has a developmental disability that significantly affects verbal and non-verbal...

Southeast Asian Parents Raising a Child with Autism: A Qualitative Investigation of Coping Styles

ERIC Educational Resources Information Center

Luong, June; Yoder, Marian K.; Canham, Daryl

2009-01-01

Autism is a developmental disability increasing in incidence over the past decade. Parents of children with autism experience prolonged levels of stress and isolation. Using qualitative research design, nine parents of children with autism participated in this study that focused on the effect of autism on the family, coping styles, and support…

Finnish Prenatal Study of Autism and Autism Spectrum Disorders (FIPS-A): Overview and Design

ERIC Educational Resources Information Center

Lampi, Katja M.; Banerjee, P. Nina; Gissler, Mika; Hinkka-Yli-Salomaki, Susanna; Huttunen, Jukka; Kulmala, Ulla; Lindroos, Jarna; Niemela, Solja; Rihko, Maria; Ristkari, Terja; Saanakorpi, Kristiina; Sarlin, Tanja; Sillanmaki, Lauri; McKeague, Ian W.; Surcel, Helja-Marja; Helenius, Hans; Brown, Alan S.; Sourander, Andre

2011-01-01

This article presents an overview of the Finnish Prenatal Study of Autism and Autism Spectrum Disorders (FIPS-A), a new study designed to examine the relationship between prenatal serologic factors, mediating and moderating developmental antecedents, and risk of autism spectrum disorders (ASD). The FIPS-A is based on register linkages between…

Autism Center First to Study Minimally Verbal Children

MedlinePlus

... on. Feature: Taste, Smell, Hearing, Language, Voice, Balance Autism Center First to Study Minimally Verbal Children Past ... research exploring the causes, diagnosis, and treatment of autism spectrum disorder (ASD), a complex developmental disorder that ...

The moderating effects of intellectual development on core symptoms of autism and PDD-NOS in toddlers and infants.

PubMed

Matson, Johnny L; Dempsey, Timothy; LoVullo, Santino V; Fodstad, Jill C; Knight, Cheryl; Sevin, Jay A; Sharp, Brenda

2013-01-01

Little research has been conducted on whether deficits in developmental functioning affect the range of core symptoms for autism spectrum disorders (ASD). This study represents a first attempt to determine whether developmental level has an effect on the expression of ASD symptoms in infants and toddlers. Eight hundred and fifty-three infants were evaluated with respect to the nature and extent of their ASD symptoms and developmental functioning. Young children with autism displayed a higher number of symptoms than those with PDD-NOS on all three domains of impairment (social, communication, repetitive behaviors). As expected, children without an ASD evinced far fewer symptoms than both these groups. Developmental level was not found to be a moderator for expression of ASD symptoms for the entire sample, or individual diagnostic groups. Higher developmental level was associated with lower severity of evinced ASD symptoms in the sample. Copyright © 2012 Elsevier Ltd. All rights reserved.

The WNT2 Gene Polymorphism Associated with Speech Delay Inherent to Autism

ERIC Educational Resources Information Center

Lin, Ping-I; Chien, Yi-Ling; Wu, Yu-Yu; Chen, Chia-Hsiang; Gau, Susan Shur-Fen; Huang, Yu-Shu; Liu, Shih-Kai; Tsai, Wen-Che; Chiu, Yen-Nan

2012-01-01

Previous evidence suggests that language function is modulated by genetic variants on chromosome 7q31-36. However, it is unclear whether this region harbors loci that contribute to speech delay in autism. We previously reported that the WNT2 gene located on 7q31 was associated with the risk of autism. Additionally, two other genes on 7q31-36,…

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism

PubMed Central

Soueid, Jihane; Kourtian, Silva; Makhoul, Nadine J.; Makoukji, Joelle; Haddad, Sariah; Ghanem, Simona S.; Kobeissy, Firas; Boustany, Rose-Mary

2016-01-01

Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic-repetitive behaviors and impaired verbal and non-verbal communication. Objectives were to determine the contribution of genetic variation to ASDs in the Lebanese. Affymetrix Cytogenetics Whole-Genome 2.7 M and CytoScan™ HD Arrays were used to detect CNVs in 41 Lebanese autistic children and 35 non-autistic, developmentally delayed and intellectually disabled patients. 33 normal participants were used as controls. 16 de novo CNVs and 57 inherited CNVs, including recognized pathogenic 16p11.2 duplications and 2p16.3 deletions were identified. A duplication at 1q43 classified as likely pathogenic encompasses RYR2 as a potential ASD candidate gene. This previously identified CNV has been classified as both pathogenic, and, of uncertain significance. A duplication of unknown significance at 10q11.22, proposed as a modulator for phenotypic disease expression in Rett syndrome, was also identified. The novel potential autism susceptibility genes PTDSS1 and AREG were uncovered and warrant further genetic and functional analyses. Previously described and novel genetic targets in ASD were identified in Lebanese families with autism. These findings may lead to improved diagnosis of ASDs and informed genetic counseling, and may also lead to untapped therapeutic targets applicable to Lebanese and non-Lebanese patients. PMID:26742492

Translational research and behavioral sciences in developmental medicine: metabolic conditions of pregnancy versus autism spectrum disorders.

PubMed

Lopaczynski, Wlodek

2012-01-01

Recently, scientific literature informed that metabolic conditions in pregnant women may be associated with increased risk for autism and other neurodevelopmental disorders in their offspring. In a cohort study of more than 1000 children between the ages of 2 and 5 years, those who had mothers classified as having "metabolic conditions" (which included diabetes, hypertension, and obesity) during pregnancy were at a significantly higher risk for developing an autism spectrum disorder (ASD) and neurodevelopmental delays. In addition, mothers with obesity were 1.6 times more likely to have a child with ASD and more than twice as likely to have a child with other developmental problems. In the United States, the prevalence of obesity among women of childbearing age is 34%. Moreover, with obesity rates rising steadily, these results appear to raise serious public health implications. The main objective of this Editorial is to propagate the health care improvement based on the translation research approach from basic behavioral sciences and relevant integrative neuroscience to pressing clinical issues that include an understanding of the etiology and assessment of disorders, and the assessment of functioning and development of innovative and culturally appropriate preventive treatment. Behavioral interventions for weight management in pregnancy may include the Transtheoretical Model (TTM) employed in obese pregnant women and then, the comparison with elements of the ecological model. A comparative effectiveness design is to test the effect of tailoring while including one of the most important predictors of screening-physician recommendation: after careful selection of analyzed behaviors from the TTM approach. However, there is also a risk that the evidence may not be conclusive for sustained weigh loss as a primary outcome of the proposed intervention, although the TTM in combination of physical activity and diet tended to produce significant results. Therefore, physicians might use the TTM to convince pregnant women to regulate weight and educate future parents on how to deal with autism at an early age of their children using watchful waiting management.

The effect of musical attention control training (MACT) on attention skills of adolescents with neurodevelopmental delays: a pilot study.

PubMed

Pasiali, Varvara; LaGasse, A Blythe; Penn, Saundra L

2014-01-01

Given the effect of musical training on the rate and accuracy of processing auditory information, therapeutic uses of music may potentially have remedial benefits for individuals with neurodevelopmental deficits. However, additional studies are needed to establish efficacy of music therapy interventions for attention skills in children/adolescents with neurodevelopmental disabilities including those with Autism Spectrum Disorders (ASD). To establish feasibility and preliminary efficacy of a group music therapy protocol to improve attention skills (sustained, selective, attentional control/switching) in adolescents diagnosed with autism and/or developmental delays. This single group pretest/posttest study took place in a private school for high functioning adolescents with neurodevelopmental delays. Nine students (4 males, 5 females), ages 13 to 20, participated in the study. Autism severity was assessed using the CARS2-HF and indicated the following distribution for study participants: severe (n = 3), mild (n = 4), or minimal/no (n = 2) symptoms. We assessed feasibility of implementing a 45-min Musical Attention Control Training (MACT) intervention delivered by a board-certified music therapist eight times over 6 weeks in a school setting. We also examined preliminary efficacy of the MACT to improve attention skills using the Test of Everyday Attention for Children (TEA-Ch). Parental consent rate was 100%. All nine participants successfully completed testing measures and 6 weeks of the intervention. Average participation rate was 97%. Data analysis showed positive trends and improvements on measures of attentional control/switching and selective attention. The results showed that the intervention and testing measures were feasible to implement and acceptable to the participants who all completed the protocol. Data analysis demonstrated positive trends indicating that more research on the use of music therapy attention training in high-functioning adolescents with neurodevelopmental disabilities is warranted. © the American Music Therapy Association 2014. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Individual differences in executive function and central coherence predict developmental changes in theory of mind in autism.

PubMed

Pellicano, Elizabeth

2010-03-01

There is strong evidence to suggest that individuals with autism show atypicalities in multiple cognitive domains, including theory of mind (ToM), executive function (EF), and central coherence (CC). In this study, the longitudinal relationships among these 3 aspects of cognition in autism were investigated. Thirty-seven cognitively able children with an autism spectrum condition were assessed on tests targeting ToM (false-belief prediction), EF (planning ability, cognitive flexibility, and inhibitory control), and CC (local processing) at intake and again 3 years later. Time 1 EF and CC skills were longitudinally predictive of change in children's ToM test performance, independent of age, language, nonverbal intelligence, and early ToM skills. Predictive relations in the opposite direction were not significant, and there were no developmental links between EF and CC. Rather than showing problems in ToM, EF and CC as co-occurring and independent atypicalities in autism, these findings suggest that early domain-general skills play a critical role in shaping the developmental trajectory of children's ToM.

Comparing Motor Skills in Autism Spectrum Individuals With and Without Speech Delay

PubMed Central

Barbeau, Elise B.; Meilleur, Andrée‐Anne S.; Zeffiro, Thomas A.

2015-01-01

Movement atypicalities in speed, coordination, posture, and gait have been observed across the autism spectrum (AS) and atypicalities in coordination are more commonly observed in AS individuals without delayed speech (DSM‐IV Asperger) than in those with atypical or delayed speech onset. However, few studies have provided quantitative data to support these mostly clinical observations. Here, we compared perceptual and motor performance between 30 typically developing and AS individuals (21 with speech delay and 18 without speech delay) to examine the associations between limb movement control and atypical speech development. Groups were matched for age, intelligence, and sex. The experimental design included: an inspection time task, which measures visual processing speed; the Purdue Pegboard, which measures finger dexterity, bimanual performance, and hand‐eye coordination; the Annett Peg Moving Task, which measures unimanual goal‐directed arm movement; and a simple reaction time task. We used analysis of covariance to investigate group differences in task performance and linear regression models to explore potential associations between intelligence, language skills, simple reaction time, and visually guided movement performance. AS participants without speech delay performed slower than typical participants in the Purdue Pegboard subtests. AS participants without speech delay showed poorer bimanual coordination than those with speech delay. Visual processing speed was slightly faster in both AS groups than in the typical group. Altogether, these results suggest that AS individuals with and without speech delay differ in visually guided and visually triggered behavior and show that early language skills are associated with slower movement in simple and complex motor tasks. Autism Res 2015, 8: 682–693. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research PMID:25820662

Descriptors of Friendship between Secondary Students with and without Autism or Intellectual and Developmental Disability

ERIC Educational Resources Information Center

Rossetti, Zachary

2015-01-01

This article reports findings from an interpretevist, qualitative study exploring the connections and dynamics of friendship among three groups of secondary school-aged young adults. Each group included an individual with autism or intellectual and developmental disabilities who had extensive or pervasive support needs, and at least one high…

Parents' Strategies to Elicit Autobiographical Memories in Autism Spectrum Disorders, Developmental Language Disorders and Typically Developing Children

ERIC Educational Resources Information Center

Goldman, Sylvie; DeNigris, Danielle

2015-01-01

Conversations about the past support the development of autobiographical memory. Parents' strategies to elicit child's participation and recall during past event conversations were compared across three school-age diagnostic groups: autism spectrum disorder (ASD, n = 11), developmental language disorders (n = 11) and typically developing (TD,…

Validating the Stress Survey Schedule for Persons with Autism and Other Developmental Disabilities

ERIC Educational Resources Information Center

Goodwin, Matthew S.; Groden, June; Velicer, Wayne F.; Diller, Amy

2007-01-01

It has been suggested that individuals with autism are more vulnerable to, and less able to cope with, the effects of stressors than the general population. However, very little work has been done to develop tools such as surveys or questionnaires that assess reactions to stressors in individuals with developmental disabilities. In the present…

Teaching Young Nonverbal Children with Autism Useful Speech: A Pilot Study of the Denver Model and PROMPT Interventions

ERIC Educational Resources Information Center

Rogers, Sally J.; Hayden, Deborah; Hepburn, Susan; Charlifue-Smith, Renee; Hall, Terry; Hayes, Athena

2006-01-01

This single subject design study examined two models of intervention: Denver Model (which merges behavioral, developmental, and relationship-oriented intervention), and PROMPT (a neuro-developmental approach for speech production disorders). Ten young, nonverbal children with autism were matched in pairs and randomized to treatment. They received…

Maintaining Vocational Skills of Individuals with Autism and Developmental Disabilities through Video Modeling

ERIC Educational Resources Information Center

Van Laarhoven, Toni; Winiarski, Lauren; Blood, Erika; Chan, Jeffrey M.

2012-01-01

A modified pre/posttest control group design was used to measure the effectiveness of video modeling on the maintenance of vocational tasks for six students with autism spectrum disorder and/or developmental disabilities. Each student was assigned two vocational tasks at their employment settings and their independence with each task was measured…

A Meta-Analysis of Video Modeling Interventions for Children and Adolescents with Emotional/Behavioral Disorders

ERIC Educational Resources Information Center

Clinton, Elias

2016-01-01

Video modeling is a non-punitive, evidence-based intervention that has been proven effective for teaching functional life skills and social skills to individuals with autism and developmental disabilities. Compared to the literature base on using video modeling for students with autism and developmental disabilities, fewer studies have examined…

Teaching Reading Comprehension and Language Skills to Students with Autism Spectrum Disorders and Developmental Disabilities Using Direct Instruction

ERIC Educational Resources Information Center

Flores, Margaret M.; Nelson, Cynthia; Hinton, Vanessa; Franklin, Toni M.; Strozier, Shaunita D.; Terry, LaTonya; Franklin, Susan

2013-01-01

There is limited research demonstrating Direct Instruction (DI) as an effective reading comprehension intervention for students with autism spectrum disorders (ASD) and developmental disabilities (DD). Previous research has shown that DI, when portions of the program were implemented, resulted in increased skills (Flores & Ganz, 2007; Flores…

Using Virtual Interactive Training Agents (ViTA) with Adults with Autism and Other Developmental Disabilities

ERIC Educational Resources Information Center

Burke, Shanna L.; Bresnahan, Tammy; Li, Tan; Epnere, Katrina; Rizzo, Albert; Partin, Mary; Ahlness, Robert M.; Trimmer, Matthew

2018-01-01

Conversational virtual human (VH) agents are increasingly used to support role-play experiential learning. This project examined whether a Virtual Interactive Training Agent (ViTA) system would improve job interviewing skills in individuals with autism and developmental disabilities (N = 32). A linear mixed model was employed to evaluate adjusted…

Sensory Symptoms in Children with Autism Spectrum Disorder, Other Developmental Disorders and Typical Development: A Longitudinal Study

ERIC Educational Resources Information Center

McCormick, Carolyn; Hepburn, Susan; Young, Gregory S.; Rogers, Sally J.

2016-01-01

Sensory symptoms are prevalent in autism spectrum disorder but little is known about the early developmental patterns of these symptoms. This study examined the development of sensory symptoms and the relationship between sensory symptoms and adaptive functioning during early childhood. Three groups of children were followed across three time…

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome

PubMed Central

Zimmermann, Michael T.; Ferber, Matthew J.; Niu, Zhiyv; Urrutia, Raul A.; Klee, Eric W.; Babovic-Vuksanovic, Dusica

2017-01-01

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1. The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on cerebrospinal fluid testing. The second is a 5-yr-old female with severe developmental delay, motor and speech delay, and repetitive motion behavior. Whole-exome sequencing identified a novel missense NR2F1 variant in each case, Cys86Phe in the DNA-binding domain in Case 1, and a Leu372Pro in the ligand-binding domain in Case 2. The presence of clinical findings compatible with BBSOAS along with structural analysis at atomic resolution using homology-based molecular modeling and molecular dynamic simulations, support the pathogenicity of these variants for BBSOAS. Short stature, abnormal CNS neurotransmitters, and macrocephaly have not been previously reported for this syndrome and may represent a phenotypic expansion of BBSOAS. A review of published cases along with new evidence from this report support genotype–phenotype correlations for this disorder. PMID:28963436

Factors Associated with Self-Injurious Behaviors in Children with Autism Spectrum Disorder: Findings from Two Large National Samples

ERIC Educational Resources Information Center

Soke, G. N.; Rosenberg, S. A.; Hamman, R. F.; Fingerlin, T.; Rosenberg, C. R.; Carpenter, L.; Lee, L. C.; Giarelli, E.; Wiggins, L. D.; Durkin, M. S.; Reynolds, A.; DiGuiseppi, C.

2017-01-01

In this study, we explored potential associations among self-injurious behaviors (SIB) and a diverse group of protective and risk factors in children with autism spectrum disorder from two databases: Autism and Developmental Disabilities Monitoring (ADDM) Network and the Autism Speaks-Autism Treatment Network (AS-ATN). The presence of SIB was…

Comparison of Simultaneous Prompting and Constant Time Delay Procedures in Teaching Children with Autism the Responses to Questions about Personal Information

ERIC Educational Resources Information Center

Akmanoglu, Nurgul; Kurt, Onur; Kapan, Alper

2015-01-01

The aim of the current study was to compare simultaneous prompting (SP) and constant time delay (CTD) in terms of their effectiveness and efficiency in teaching children with autism how to respond to questions about personal information. The adapted alternating treatments model was used in the study. Three male students with autism aged 4, 6, and…

Teacher Support in the Implementation of Classroom Interventions for Middle School Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Pantoja, Danitza

2014-01-01

Autism spectrum disorder is generally regarded as complex, neurologically based, developmental disability that typically has its onset early in life (Myles & Simpson, 2001). Autism spectrum disorder is considered a universal disorder that affects children across all socioeconomic and educational levels (Wilkinson, 2010). Autism spectrum…

Analysis of the Internal Consistency of Three Autism Scales. Brief Report.

ERIC Educational Resources Information Center

Sturmey, Peter; And Others

1992-01-01

Analyses of the internal consistency of three autism scales--the Autism Behavior Checklist (ABC), the Real Life Rating Scale (RLRS), and the Childhood Autism Rating Scale (CARS)--were conducted with 34 children with pervasive developmental disabilities. Good internal consistency was found for the CARS. Adequate full-scale consistency was found for…

Prenatal Antidepressants and Autism Spectrum Disorder

DTIC Science & Technology

2014-09-01

citalopram, fluoxetine, bupropion, valproic acid, autism spectrum disorder, developmental disorders, prenatal effects, neurodevelopment , rat, behavior...1 AWARD NUMBER: W81XWH-13-1-0306 TITLE: Prenatal Antidepressants and Autism Spectrum Disorder PRINCIPAL INVESTIGATOR...TYPE Annual 3. DATES COVERED 1Sept 2013-31Aug2014 4. TITLE AND SUBTITLE Prenatal Antidepressants and Autism Spectrum Disorder 5a

When Autism and Deafness Coexist in Children: What We Know Now

ERIC Educational Resources Information Center

Szymanski, Christen; Brice, Patrick J.

2008-01-01

While many explanations have been offered for the increased rate of autism, the true cause remains unknown. Nonetheless, in the United States, "diagnoses of autism are increasing faster than any other diagnosis of developmental disability in children." But this statement, like others pertaining to the characteristics of autism and the relevant…

Context modulates attention to social scenes in toddlers with autism

PubMed Central

Chawarska, Katarzyna; Macari, Suzanne; Shic, Frederick

2013-01-01

Background In typical development, the unfolding of social and communicative skills hinges upon the ability to allocate and sustain attention towards people, a skill present moments after birth. Deficits in social attention have been well documented in autism, though the underlying mechanisms are poorly understood. Methods In order to parse the factors that are responsible for limited social attention in toddlers with autism, we manipulated the context in which a person appeared in their visual field with regard to the presence of salient social (child-directed speech and eye contact) and nonsocial (distractor toys) cues for attention. Participants included 13- to 25-month-old toddlers with autism (AUT; n=54), developmental delay (DD; n=22), and typical development (TD; n=48). Their visual responses were recorded with an eye-tracker. Results In conditions devoid of eye contact and speech, the distribution of attention between key features of the social scene in toddlers with autism was comparable to that in DD and TD controls. However, when explicit dyadic cues were introduced, toddlers with autism showed decreased attention to the entire scene and, when they looked at the scene, they spent less time looking at the speaker’s face and monitoring her lip movements than the control groups. In toddlers with autism, decreased time spent exploring the entire scene was associated with increased symptom severity and lower nonverbal functioning; atypical language profiles were associated with decreased monitoring of the speaker’s face and her mouth. Conclusions While in certain contexts toddlers with autism attend to people and objects in a typical manner, they show decreased attentional response to dyadic cues for attention. Given that mechanisms supporting responsivity to dyadic cues are present shortly after birth and are highly consequential for development of social cognition and communication, these findings have important implications for the understanding of the underlying mechanisms of limited social monitoring and identifying pivotal targets for treatment. PMID:22428993

Neonatal cytokine profiles associated with autism spectrum disorder

PubMed Central

Tancredi, Daniel J.; Ashwood, Paul; Hansen, Robin L.; Hertz-Picciotto, Irva; Van de Water, Judy

2015-01-01

Background Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that can be reliably diagnosed as early as 24 months. Immunological phenomena, including skewed cytokine production, have been observed among children with ASD. Little is known about whether immune dysregulation is present before diagnosis of ASD. Methods We utilized neonatal blood spots from 214 children with ASD (141 severe, 73 mild/moderate), 62 typically developing (TD), and 27 developmental delayed controls who participated in CHARGE (Childhood Autism Risks from Genetics and the Environment), a population-based case-control study. Levels of 17 cytokines/chemokines were compared across groups and in relation to developmental/behavioral domains. Results Interleukin (IL)-1β and IL-4 were independently associated with ASD vs. TD although these relationships varied by ASD symptom intensity. Elevated IL-4 associated with increased odds of severe ASD (ASDsev) (odds ratio[OR]=1.40, 95% confidence interval[CI] 1.03, 1.91) whereas IL-1β associated with increased odds of mild/moderate ASD (ASDmild) (OR=3.02, 95% CI 1.43, 6.38). Additionally, IL-4 was associated with a higher likelihood of ASDsev vs. ASDmild (OR=1.35, 95% CI 1.04, 1.75). In male ASD cases, IL-4 was negatively associated with non-verbal cognitive ability (β=−3.63, SE=1.33, P=0.04). Conclusions This study is part of a growing effort to identify early biological markers for ASD. We demonstrate that peripheral cytokine profiles at birth are associated with ASD later in childhood and that cytokine profiles vary depending on ASD severity. Cytokines have complex roles in neurodevelopment, and dysregulated levels may be indicative of genetic differences and environmental exposures or their interactions that relate to ASD. PMID:26392128

Relation between early motor delay and later communication delay in infants at risk for autism.

PubMed

Bhat, A N; Galloway, J C; Landa, R J

2012-12-01

Motor delays have been reported in retrospective studies of young infants who later develop Autism Spectrum Disorders (ASDs). In this study, we prospectively compared the gross motor development of a cohort at risk for ASDs; infant siblings of children with ASDs (AU sibs) to low risk typically developing (LR) infants. 24 AU sibs and 24 LR infants were observed at 3 and 6 months using a standardized motor measure, the Alberta Infant Motor Scale (AIMS). In addition, as part of a larger study, the AU sibs also received a follow-up assessment to determine motor and communication performance at 18 months using the Mullen Scales of Early Learning. Significantly more AU sibs showed motor delays at 3 and 6 months than LR infants. The majority of the AU sibs showed both early motor delays and later communication delays. Small sample size and limited follow-up. Early motor delays are more common in AU sibs than LR infants. Communication delays later emerged in 67-73% of the AU sibs who had presented with early motor delays. Overall, early motor delays may be predictive of future communication delays in children at risk for autism. Copyright © 2012 Elsevier Inc. All rights reserved.

Adults with Autism Spectrum Disorder as Behavior Technicians for Young Children with Autism: Outcomes of a Behavioral Skills Training Program

ERIC Educational Resources Information Center

Lerman, Dorothea C.; Hawkins, Lynn; Hillman, Conrad; Shireman, Molly; Nissen, Melissa A.

2015-01-01

Adults with autism spectrum disorder (ASD), who were interested in working as behavior technicians for young children with autism, participated in 2 experiments. Participants included 5 adults with Asperger syndrome or pervasive developmental disorder not otherwise specified, 19 to 23 years old, and 11 children with autism, 3 to 7 years old. In…

Assessing Autism in Adults: An Evaluation of the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult)

ERIC Educational Resources Information Center

Mandy, William; Clarke, Kiri; McKenner, Michele; Strydom, Andre; Crabtree, Jason; Lai, Meng-Chuan; Allison, Carrie; Baron-Cohen, Simon; Skuse, David

2018-01-01

We developed a brief, informant-report interview for assessing autism spectrum conditions (ASC) in adults, called the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult); and completed a preliminary evaluation. Informant reports were collected for participants with ASC (n = 39), a non-clinical comparison group (n = 29)…

Translation and Validation of the Developmental, Dimensional and Diagnostic Interview (3Di) for Diagnosis of Autism Spectrum Disorder in Thai Children

ERIC Educational Resources Information Center

Chuthapisith, Jariya; Taycharpipranai, Pasinee; Ruangdaraganon, Nichara; Warrington, Richard; Skuse, David

2012-01-01

This study aimed to examine the effectiveness of a translated version of the short version of the Developmental, Dimensional and Diagnostic Interview (3Di) in discriminating children with autism spectrum disorders (ASDs) from typically developing children. Two groups, comprising 63 children with clinically ascertained ASDs and 67 typically…

Using the Concrete-Representational-Abstract Sequence and the Strategic Instruction Model to Teach Computation to Students with Autism Spectrum Disorders and Developmental Disabilities

ERIC Educational Resources Information Center

Flores, Margaret M.; Hinton, Vanessa M.; Strozier, Shaunita D.

2014-01-01

There is a need for further investigation of evidence-based practices for students with autism spectrum disorders and developmental disabilities leading to students' success within the general education curriculum (Cihak & Foust, 2008; Rockwell, Griffin, & Jones, 2011; Schaefer-Whitby, Travers, & Harnik, 2009). The purpose of this…

The Perspective of Young Adult Siblings of Individuals with Asperger Syndrome and High Functioning Autism: An Exploration of Grief and Implications for Developmental Transition

ERIC Educational Resources Information Center

Allgood, Nicole R.

2010-01-01

Asperger syndrome (AS) and high functioning autism are complex developmental disabilities that have a significant impact on the individual and his/her family. Asperger syndrome is characterized by challenges with understanding non-verbal communication, difficulties with social relationships, and restricted interests. Having a brother or sister…

Adaptive Behavior in Autism and Pervasive Developmental Disorder-Not Otherwise Specified: Microanalysis of Scores on the Vineland Adaptive Behavior Scales

ERIC Educational Resources Information Center

Paul, Rhea; Miles, Stephanie; Cicchetti, Domenic; Sparrow, Sara; Klin, Ami; Volkmar, Fred; Coflin, Megan; Booker, Shelley

2004-01-01

The purpose of this study is to provide a microanalysis of differences in adaptive functioning seen between well-matched groups of school-aged children with autism and those diagnosed as having Pervasive Developmental Disorder-Not Otherwise Specified, all of whom functioned in the mild to moderate range of intellectual impairment. Findings…

The Effectiveness of Simulated Developmental Horse-Riding Program in Children with Autism

ERIC Educational Resources Information Center

Wuang, Yee-Pay; Wang, Chih-Chung; Huang, Mao-Hsiung; Su, Chwen-Yng

2010-01-01

This study investigated the effectiveness of a 20-week Simulated Developmental Horse-Riding Program (SDHRP) by using an innovative exercise equipment (Joba[R]) on the motor proficiency and sensory integrative functions in 60 children with autism (age: 6 years, 5 months to 8 years, 9 months). In the first phase of 20 weeks, 30 children received the…

A Comparison of Topography-Based and Selection-Based Verbal Behavior in Typically Developed Children and Developmentally Disabled Persons with Autism

ERIC Educational Resources Information Center

Vignes, Tore

2007-01-01

This study is a replication of Sundberg and Sundberg (1990) that compared topography-based verbal behavior with selection-based verbal behavior in terms of acquisition, accuracy, and testing for the emergence of a new verbal relation. Participants were three typical children and three developmentally disabled persons with autism. The study sought…

Integrating a Parent-Implemented Blend of Developmental and Behavioral Intervention Strategies into Speech-Language Treatment for Toddlers at Risk for Autism Spectrum Disorder

ERIC Educational Resources Information Center

Rieth, Sarah R.; Haine-Schlagel, Rachel; Burgeson, Marilee; Searcy, Karyn; Dickson, Kelsey S.; Stahmer, Aubyn C.

2018-01-01

Naturalistic developmental behavioral interventions include an explicit focus on coaching parents to use therapy techniques in daily routines and are considered best practice for young children with autism. Unfortunately, these approaches are not widely used in community settings, possibly due to the clinical expertise and training required. This…

Comparative Effects of Mindfulness and Support and Information Group Interventions for Parents of Adults with Autism Spectrum Disorder and Other Developmental Disabilities

ERIC Educational Resources Information Center

Lunsky, Yona; Hastings, Richard P.; Weiss, Jonathan A.; Palucka, Anna M.; Hutton, Sue; White, Karen

2017-01-01

This study evaluated two community based interventions for parents of adults with autism spectrum disorder and other developmental disabilities. Parents in the mindfulness group reported significant reductions in psychological distress, while parents in the support and information group did not. Reduced levels of distress in the mindfulness group…

Maximizing ESY Services: Teaching Pre-Service Teachers to Assess Communication Skills and Implement Picture Exchange with Students with Autism Spectrum Disorder and Developmental Disabilities

ERIC Educational Resources Information Center

Hill, Doris Adams; Flores, Margaret M.; Kearley, Regina F.

2014-01-01

The authors supervised and trained pre-service teachers while conducting extended school year (ESY) services for pre-kindergarten and elementary students with autism spectrum disorder (ASD) and other developmental disabilities (DD). Each classroom was responsible for conducting communication assessments and developing interventions focused on…

PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.

PubMed

Dawson, Angelika J; Cox, Janice; Hovanes, Karine; Spriggs, Elizabeth

2015-01-01

The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. In addition, this region encompasses imprinted genes that cause PWS or AS, depending on the parent-of-origin. This imprinting allows for diagnosis of PWS or AS based on methylation status using methylation sensitive (MS) multiplex ligation dependent probe amplification (MLPA). Maternally derived microduplications at 15q11.2-q13 have been associated with autism and other neuropsychiatric disorders. Multiple methods have been used to determine the parent-of-origin for 15q11.2-q13 microdeletions and microduplications. In the present study, a four-year-old nondysmorphic female patient with developmental delay was found to have a de novo ~5 Mb duplication within 15q11.2 by oligonucleotide genomic array. In order to determine the significance of this microduplication to the clinical phenotype, the parent-of-origin needed to be identified. The PWS/AS MS-MLPA assay is generally used to distinguish between deletion and uniparental disomy (UPD) of 15q11.2-q13, resulting in either PWS or AS. However, our study shows that PWS/AS MS-MLPA can also efficiently distinguish the parental origin of duplications of 15q11.2-q13.

Developmental trends of hot and cool executive function in school-aged children with and without autism spectrum disorder: Links with theory of mind.

PubMed

Kouklari, Evangelia-Chrysanthi; Tsermentseli, Stella; Monks, Claire P

2018-03-26

The development of executive function (EF) in autism spectrum disorder (ASD) has been investigated using only "cool"-cognitive EF tasks while there is limited knowledge regarding the development of "hot"-affective EF. Although cool EF development and its links to theory of mind (ToM) have been widely examined, understanding of the influence of hot EF to ToM mechanisms is minimal. The present study introduced a longitudinal design to examine the developmental changes in cool and hot EF of children with ASD (n = 45) and matched (to age and IQ) controls (n = 37) as well as the impact of EF on ToM development over a school year. For children with ASD, although selective cool (working memory and inhibition) and hot (affective decision making) EF domains presented age-related improvements, they never reached the performance level of the control group. Early cool working memory predicted later ToM in both groups but early hot delay discounting predicted later ToM only in the ASD group. No evidence was found for the reverse pattern (early ToM predicting later EF). These findings suggest that improvements in some EF aspects are evident in school age in ASD and highlight the crucial role that both cool and hot EF play in ToM development.

Autism does not limit strategic thinking in the “beauty contest” game

PubMed Central

Pantelis, Peter C.; Kennedy, Daniel P.

2017-01-01

A popular hypothesis in developmental psychology is that individuals with autism spectrum disorder (ASD) have a specific impairment or developmental delay in their ability to reason about other people’s mental processes, especially when this reasoning process is of a higher-order, recursive, or nested variety. One type of interpersonal interaction that involves this sort of complex reasoning about others’ minds is an economic game, and because economic games have been extensively modeled in behavioral economics, they provide a unique testbed for a quantitative and precise analysis of cognitive functioning in ASD. This study specifically asked whether ASD is associated with strategic depth in the economic game known as The Beauty Contest, in which all players submit a number from 0 to 100, and the winner is the player who submits the number closest to 2/3 of the mean of all numbers submitted. Unexpectedly, the distribution of responses among adult participants with ASD reflected a level of strategic reasoning at least as deep as that of their neurotypical peers, with the same proportion of participants with ASD being characterized as “higher order” strategic players. Thus, whatever mentalistic reasoning abilities are necessary for typical performance in the context of this economic game appear to be largely intact, and therefore unlikely to be fundamental to persistent social dysfunction in ASD. PMID:28081516

Autism does not limit strategic thinking in the "beauty contest" game.

PubMed

Pantelis, Peter C; Kennedy, Daniel P

2017-03-01

A popular hypothesis in developmental psychology is that individuals with autism spectrum disorder (ASD) have a specific impairment or developmental delay in their ability to reason about other people's mental processes, especially when this reasoning process is of a higher-order, recursive, or nested variety. One type of interpersonal interaction that involves this sort of complex reasoning about others' minds is an economic game, and because economic games have been extensively modeled in behavioral economics, they provide a unique testbed for a quantitative and precise analysis of cognitive functioning in ASD. This study specifically asked whether ASD is associated with strategic depth in the economic game known as The Beauty Contest, in which all players submit a number from 0 to 100, and the winner is the player who submits the number closest to 2/3 of the mean of all numbers submitted. Unexpectedly, the distribution of responses among adult participants with ASD reflected a level of strategic reasoning at least as deep as that of their neurotypical peers, with the same proportion of participants with ASD being characterized as "higher order" strategic players. Thus, whatever mentalistic reasoning abilities are necessary for typical performance in the context of this economic game appear to be largely intact, and therefore unlikely to be fundamental to persistent social dysfunction in ASD. Copyright © 2016 Elsevier B.V. All rights reserved.

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

PubMed

Lam, Ching-Wan; Yeung, Wai-Lan; Law, Chun-Yiu

2017-06-01

More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise. Physical examination showed the patient was hypotonic despite normal muscle power and reflexes. She also had progressive microcephaly. Developmental assessment at 6y showed the patient had a corresponding functional age of 1y. The patient also had autistic feature. The patient had no abnormal biochemical or radiological findings. To investigate the molecular basis of the clinical presentation, we applied clinical whole-exome sequencing (WES) for the proband and the family, and we identified a novel de novo heterozygous missense pathogenic variant, TOP2B: NM_001068.2:c.172C>T; NP_001059.2:p.His58Tyr. TOP2B encodes for the enzyme, topoisomerase II isoenzyme beta which is abundant in both developing and adult brain. Defect of topoisomerase is also known to cause ASD. Using clinical WES, we were able to identify the disease-causing gene for this patient in a holistic approach and end the diagnostic odyssey with a therapeutic impact. Copyright © 2017 Elsevier B.V. All rights reserved.

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.

PubMed

Sansović, Ivona; Ivankov, Ana-Maria; Bobinec, Adriana; Kero, Mijana; Barišić, Ingeborg

2017-06-14

To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA. In 30 of 337 patients, chromosomal imbalances had previously been detected by classical cytogenetic and molecular cytogenetic methods. In 73 of 337 patients, clinically relevant variants were detected and better characterized. Most of them were >1 Mb. Variants of unknown clinical significance (VOUS) were discovered in 35 patients. The most common VOUS size category was <300 kb (40.5%). Deletions and de novo imbalances were more frequent in pathogenic CNV than in VOUS category. CMA had a high diagnostic yield of 43/307, excluding patients previously detected by other methods. CMA was valuable in establishing the diagnosis in a high proportion of patients. Criteria for classification and interpretation of CNVs include CNV size and type, mode of inheritance, and genotype-phenotype correlation. Agilent ISCA v2 Human Genome 8x60 K oligonucleotide microarray format proved to be reasonable resolution for clinical use, particularly in the regions that are recommended by the International Standard Cytogenomic Array (ISCA) Consortium and associated with well-established syndromes.

Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence.

PubMed

Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H

2009-12-01

The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Sixty-four high-functioning children with ASD were ascertained at 4-6 years of age from several different regional diagnostic and treatment centers. At 6-8 years of age, the ADI-R and the Test of Oral Language Development were used to define an autism group (those with StrLI at 6-8 years of age) and an AS group (those without StrLI). Growth curve analysis was then used to chart the developmental trajectories of these children on measures of autistic symptoms, and adaptive skills in communication, daily living and socialization. Differentiating the ASD group in terms of the presence/absence of StrLI provided a better explanation of the variation in growth curves than not differentiating high-functioning ASD children. The two groups had similar developmental trajectories but the group without StrLI (the AS group) was functioning better and had fewer autistic symptoms than the group with StrLI (the autism group) on all measures across time. The differences in outcome could not be explained by non-verbal IQ or change in early language skills. Distinguishing between autism and Asperger syndrome based on the presence or absence of StrLI appears to be a clinically useful way of classifying ASD sub-types.

Blood mercury concentrations in CHARGE Study children with and without autism.

PubMed

Hertz-Picciotto, Irva; Green, Peter G; Delwiche, Lora; Hansen, Robin; Walker, Cheryl; Pessah, Isaac N

2010-01-01

Some authors have reported higher blood mercury (Hg) levels in persons with autism, relative to unaffected controls. We compared blood total Hg concentrations in children with autism or autism spectrum disorder (AU/ASD) and typically developing (TD) controls in population-based samples, and determined the role of fish consumption in differences observed. The Childhood Autism Risk from Genetics and the Environment (CHARGE) Study enrolled children 2-5 years of age. After diagnostic evaluation, we analyzed three groups: AU/ASD, non-AU/ASD with developmental delay (DD), and population-based TD controls. Mothers were interviewed about household, medical, and dietary exposures. Blood Hg was measured by inductively coupled plasma mass spectrometry. Multiple linear regression analysis was conducted (n = 452) to predict blood Hg from diagnostic status controlling for Hg sources. Fish consumption strongly predicted total Hg concentration. AU/ASD children ate less fish. After adjustment for fish and other Hg sources, blood Hg levels in AU/ASD children were similar to those of TD children (p = 0.75); this was also true among non-fish eaters (p = 0.73). The direct effect of AU/ASD diagnosis on blood Hg not through the indirect pathway of altered fish consumption was a 12% reduction. DD children had lower blood Hg concentrations in all analyses. Dental amalgams in children with gum-chewing or teeth-grinding habits predicted higher levels. After accounting for dietary and other differences in Hg exposures, total Hg in blood was neither elevated nor reduced in CHARGE Study preschoolers with AU/ASD compared with unaffected controls, and resembled those of nationally representative samples.

Developmental Trajectories in Children With and Without Autism Spectrum Disorders: The First 3 Years

PubMed Central

Landa, Rebecca J.; Stuart, Elizabeth A.; Gross, Alden L.; Faherty, Ashley

2014-01-01

Retrospective studies indicate 2 major classes of autism spectrum disorder (ASD) onset: early and later, after a period of relatively healthy development. This prospective, longitudinal study examined social, language, and motor trajectories in 235 children with and without a sibling with autism, ages 6–36 months. Children were grouped as: ASD identified by 14 months, ASD identified after 14 months, and no ASD. Despite groups’ initial similar developmental level at 6 months, ASD groups exhibited atypical trajectories thereafter. Impairment from 14 to 24 months was greater in the Early-ASD than the Later-ASD group, but comparable at 36 months. Developmental plateau and regression occurred in some children with ASD, regardless of timing of ASD diagnosis. Findings indicate a preclinical phase of varying duration for ASD. PMID:23110514

Procedural learning in Parkinson's disease, specific language impairment, dyslexia, schizophrenia, developmental coordination disorder, and autism spectrum disorders: A second-order meta-analysis.

PubMed

Clark, Gillian M; Lum, Jarrad A G

2017-10-01

The serial reaction time task (SRTT) has been used to study procedural learning in clinical populations. In this report, second-order meta-analysis was used to investigate whether disorder type moderates performance on the SRTT. Using this approach to quantitatively summarise past research, it was tested whether autism spectrum disorder, developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment differentially affect procedural learning on the SRTT. The main analysis revealed disorder type moderated SRTT performance (p=0.010). This report demonstrates comparable levels of procedural learning impairment in developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment. However, in autism, procedural learning is spared. Copyright © 2017 Elsevier Inc. All rights reserved.

Sexual Knowledge Acquisition and Retention for Individuals with Autism

ERIC Educational Resources Information Center

Pask, Liza; Hughes, Tammy L.; Sutton, Lawrence R.

2016-01-01

"Healthy Relationships & Autism" is a developmentally sequenced, manualized intervention intended for children and adolescents with an autism spectrum disorder (ASD). The curriculum is designed to facilitate healthy interpersonal relationships; three modules cover personal hygiene, sexual knowledge, and a variety of productive…

Autism Spectrum Disorder Reporting in Lower Socioeconomic Neighborhoods

ERIC Educational Resources Information Center

Dickerson, Aisha S.; Rahbar, Mohammad H.; Pearson, Deborah A.; Kirby, Russell S.; Bakian, Amanda V.; Bilder, Deborah A.; Harrington, Rebecca A.; Pettygrove, Sydney; Zahorodny, Walter M.; Moyé, Lemuel A.; Durkin, Maureen; Slay Wingate, Martha

2017-01-01

Utilizing surveillance data from five sites participating in the Autism and Developmental Disabilities Monitoring Network, we investigated contributions of surveillance subject and census tract population sociodemographic characteristics on variation in autism spectrum disorder ascertainment and prevalence estimates from 2000 to 2008 using ordinal…

Adolescent Boys with an Autism Spectrum Disorder and Their Experience of Sexuality: An Interpretative Phenomenological Analysis

ERIC Educational Resources Information Center

Dewinter, Jeroen; Van Parys, Hanna; Vermeiren, Robert; van Nieuwenhuizen, Chijs

2017-01-01

This qualitative study explored how adolescent boys with autism spectrum disorder experience their sexuality. Previous research has demonstrated that sexuality is a developmental task for boys with autism spectrum disorder, as it is for their peers. Case studies have suggested a relation between autism spectrum disorder and atypical sexual…

Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder

ERIC Educational Resources Information Center

Thurman, Angela John; McDuffie, Andrea; Kover, Sara T.; Hagerman, Randi J.; Abbeduto, Leonard

2015-01-01

Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional…

A Review of Research into Stakeholder Perspectives on Inclusion of Students with Autism in Mainstream Schools

ERIC Educational Resources Information Center

Roberts, Jacqueline; Simpson, Kate

2016-01-01

Increasing numbers of students with autism are being educated in mainstream schools. However, outcomes for students with autism are poor when compared to typical students and students with other developmental disabilities. In order to better understand facilitators and barriers to success at school for students with autism, research into the…

Autism and Obstacles to Medical Diagnosis and Treatment: Two Case Studies

ERIC Educational Resources Information Center

Smith, Marcia Datlow; Graveline, Patrick J.; Smith, Jared Brian

2012-01-01

Autism is a developmental disability that provides special challenges to families, schools, and adult support systems. An additional area that is affected by the symptoms of autism is medicine. The deficits associated with autism in the areas of communication and social skills, as well as the prevalence of challenging behavior can interfere with…

The Use of Music to Improve Social Skills Development in Children Diagnosed with Autism

ERIC Educational Resources Information Center

Jemison Pollard, Dianne

2010-01-01

Autism is defined as a neuro-developmental disorder and is characterized by a chronic and severe impairment in social relations. Children with autism have limited development in both verbal language and non-verbal language, relative to eye contact, gestures, facial expression, and body language. The cause of autism is not known; however, genetic…

Minds between Us: Autism, Mindblindness and the Uncertainty of Communication

ERIC Educational Resources Information Center

McGuire, Anne E.; Michalko, Rod

2011-01-01

This paper problematizes contemporary cultural understandings of autism. We make use of the developmental psychology concepts of "Theory of Mind" and "mindblindness" to uncover the meaning of autism as expressed in these concepts. Our concern is that autism is depicted as a puzzle and that this depiction governs not only the way Western culture…

Annual Research Review: Understudied Populations within the Autism Spectrum--Current Trends and Future Directions in Neuroimaging Research

ERIC Educational Resources Information Center

Jack, Allison; Pelphrey, Kevin A.

2017-01-01

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal…

Screening for Autism in Young Children: The Modified Checklist for Autism in Toddlers (M-Chat) and Other Measures

ERIC Educational Resources Information Center

Dumont-Mathieu, Thyde; Fein, Deborah

2005-01-01

The literature on the importance of early identification and early intervention for children with developmental disabilities such as autism continues to grow. The increased prevalence of autistic spectrum disorders has fostered research efforts on the development and validation of autism-specific screening instruments for use with young children.…

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.

PubMed

Tordjman, Sylvie; Anderson, George M; Cohen, David; Kermarrec, Solenn; Carlier, Michèle; Touitou, Yvan; Saugier-Veber, Pascale; Lagneaux, Céline; Chevreuil, Claire; Verloes, Alain

2013-08-23

Deletion of the Williams-Beuren syndrome (WBS) critical region (WBSCR), at 7q11.23, causes a developmental disorder commonly characterized by hypersociability and excessive talkativeness and often considered the opposite behavioral phenotype to autism. Duplication of the WBSCR leads to severe delay in expressive language. Gene-dosage effects on language development at 7q11.23 have been hypothesized. Molecular characterization of the WBSCR was performed by fluorescence in situ hybridization and high-resolution single-nucleotide polymorphism array in two individuals with severe autism enrolled in a genetic study of autism who showed typical WBS facial dysmorphism on systematic clinical genetic examination. The serotonin transporter promoter polymorphism (5-HTTLPR, locus SLC6A4) was genotyped. Platelet serotonin levels and urinary 6-sulfatoxymelatonin excretion were measured. Behavioral and cognitive phenotypes were examined. The two patients had common WBSCR deletions between proximal and medial low copy repeat clusters, met diagnostic criteria for autism and displayed severe impairment in communication, including a total absence of expressive speech. Both patients carried the 5-HTTLPR ss genotype and exhibited platelet hyperserotonemia and low melatonin production. Our observations indicate that behaviors and neurochemical phenotypes typically associated with autism can occur in patients with common WBSCR deletions. The results raise intriguing questions about phenotypic heterogeneity in WBS and regarding genetic and/or environmental factors interacting with specific genes at 7q11.23 sensitive to dosage alterations that can influence the development of social communication skills. Thus, the influence of WBSCR genes on social communication expression might be dramatically modified by other genes, such as 5-HTTLPR, known to influence the severity of social communication impairments in autism, or by environmental factors, such as hyperserotonemia, given that hyperserotonemia is found in WBS associated with autism but not in WBS without autism. In this regard, WBS provides a potentially fruitful model with which to develop integrated genetic, cognitive, behavioral and neurochemical approaches to study genotype-phenotype correlations, possible gene-environment interactions and genetic background effects. The results underscore the importance of considering careful clinical and molecular genetic examination of individuals diagnosed with autism.

Morphological abnormalities of embryonic cranial nerves after in utero exposure to valproic acid: implications for the pathogenesis of autism with multiple developmental anomalies.

PubMed

Tashiro, Yasura; Oyabu, Akiko; Imura, Yoshio; Uchida, Atsuko; Narita, Naoko; Narita, Masaaki

2011-06-01

Autism is often associated with multiple developmental anomalies including asymmetric facial palsy. In order to establish the etiology of autism with facial palsy, research into developmental abnormalities of the peripheral facial nerves is necessary. In the present study, to investigate the development of peripheral cranial nerves for use in an animal model of autism, rat embryos were treated with valproic acid (VPA) in utero and their cranial nerves were visualized by immunostaining. Treatment with VPA after embryonic day 9 had a significant effect on the peripheral fibers of several cranial nerves. Following VPA treatment, immunoreactivity within the trigeminal, facial, glossopharyngeal and vagus nerves was significantly reduced. Additionally, abnormal axonal pathways were observed in the peripheral facial nerves. Thus, the morphology of several cranial nerves, including the facial nerve, can be affected by prenatal VPA exposure as early as E13. Our findings indicate that disruption of early facial nerve development is involved in the etiology of asymmetric facial palsy, and may suggest a link to the etiology of autism. Copyright © 2011 ISDN. Published by Elsevier Ltd. All rights reserved.

Diagnostic stability of autism spectrum disorder in toddlers prospectively identified in a community-based setting: Behavioural characteristics and predictors of change over time.

PubMed

Barbaro, Josephine; Dissanayake, Cheryl

2017-10-01

Autism spectrum disorder diagnoses in toddlers have been established as accurate and stable across time in high-risk siblings and clinic-referred samples. Few studies have investigated diagnostic stability in children prospective identified in community-based settings. Furthermore, there is a dearth of evidence on the individual behaviours that predict diagnostic change over time. The stability and change of autism spectrum disorder diagnoses were investigated from 24 to 48 months in 77 children drawn from the Social Attention and Communication Study. Diagnostic stability was high, with 88.3% overall stability and 85.5% autism spectrum disorder stability. The behavioural markers at 24 months that contributed to diagnostic shift off the autism spectrum by 48 months included better eye contact, more directed vocalisations, the integration of gaze and directed vocalisations/gestures and higher non-verbal developmental quotient. These four variables correctly predicted 88.7% of children into the autism spectrum disorder-stable and autism spectrum disorder-crossover groups overall, with excellent prediction for the stable group (96.2%) and modest prediction for the crossover group (44.4%). Furthermore, non-verbal developmental quotient at 24 months accounted for the significant improvement across time in 'Social Affect' scores on the Autism Diagnostic Observation Schedule for both groups and was the only unique predictor of diagnostic crossover. These findings contribute to the body of evidence on the feasibility of diagnoses at earlier ages to facilitate children's access to interventions to promote positive developmental outcomes.

Immunopathogenesis in Autism: Regulatory T-Cells and Autoimmunity in Neurodevelopment

DTIC Science & Technology

2011-12-01

etiology of autism and related neurodevelopmental disorders is largely unknown. Myriad hypotheses have suggested that exogenous agents, such as...developmental exposure to PFOA of PFOS. However, autism risk cannot be determined from these data alone. Regulatory T cells, immunophenotyping...autoantibodies, CD3+, myelin basic protein, autism 1 JUL 2010 - 30 NOV 2011Final01-12-2011 W81XWH-10-1-0484 Immunopathogenesis in Autism : Regulatory T-Cells

Otitis and autism spectrum disorders

PubMed Central

Tajima-Pozo, Kazuhiro; Zambrano-Enriquez, Diana; De Anta, Laura; Zelmanova, Julie; De Dios Vega, Jose Luis; Lopez-Ibor, Juan Jose

2010-01-01

The case of a 5-year-old child diagnosed as having pervasive developmental disorder (PDD), autistic type, from age 1 is reported. After surgery of vegetation in middle ear for repetitive otitis, the child presented an improvement in autistic behaviours, previously expressed as impaired social interactions, qualitative abnormalities in communication, a marked delay in language development, echolalia, stereotypies and self-aggressive behaviours. The aim of this paper is to bring attention to occurrences of misdiagnosis of PDD, which can occur when an adequate screening of the autistic syndrome is not realised. The result of the surgery was an improvement in autistic behaviours, despite the persistence of less severe autistic traits that may be more closely related to Asperger’s syndrome. PMID:22736729

Prediction of Autism at 3 Years from Behavioural and Developmental Measures in High-Risk Infants: A Longitudinal Cross-Domain Classifier Analysis

ERIC Educational Resources Information Center

Bussu, G.; Jones, E. J. H.; Charman, T.; Johnson, M. H.; Buitelaar, J. K.; Baron-Cohen, S.; Bedford, R.; Bolton, P.; Blasi, A.; Chandler, S.; Cheung, C.; Davies, K.; Elsabbagh, M.; Fernandes, J.; Gammer, I.; Garwood, H.; Gliga, T.; Guiraud, J.; Hudry, K.; Liew, M.; Lloyd-Fox, S.; Maris, H.; O'Hara, L.; Pasco, G.; Pickles, A.; Ribeiro, H.; Salomone, E.; Tucker, L.; Volein, A.

2018-01-01

We integrated multiple behavioural and developmental measures from multiple time-points using machine learning to improve early prediction of individual Autism Spectrum Disorder (ASD) outcome. We examined Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales, and early ASD symptoms between 8 and 36 months in high-risk siblings (HR; n…

Access to Services, Quality of Care, and Family Impact for Children with Autism, Other Developmental Disabilities, and Other Mental Health Conditions

ERIC Educational Resources Information Center

Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire

2014-01-01

This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with…

Brief Report: Repetitive Behaviors in Young Children with Autism Spectrum Disorder and Developmentally Similar Peers--A Follow Up to Watt et al. (2008)

ERIC Educational Resources Information Center

Barber, Angela B.; Wetherby, Amy M.; Chambers, Nola W.

2012-01-01

The present study extended the findings of Watt et al. (J Autism Dev Disord 38:1518-1533, 2008) by investigating repetitive and stereotyped behaviors (RSB) demonstrated by children (n = 50) and typical development (TD; n = 50) matched on developmental age, gender, and parents' education level. RSB were coded from videotaped Communication and…

Stability of Motor Problems in Young Children with or at Risk of Autism Spectrum Disorders, ADHD, and or Developmental Coordination Disorder

ERIC Educational Resources Information Center

van Waelvelde, Hilde; Oostra, Ann; DeWitte, Griet; van den Broeck, Christine; Jongmans, Marian J.

2010-01-01

Aim: The aim of this study was to investigate the stability of motor problems in a clinically referred sample of children with, or at risk of, autism spectrum disorders (ASDs), attention-deficit-hyperactivity disorder (ADHD), and/or developmental coordination disorder (DCD). Method: Participants were 49 children (39 males, 10 females; mean age 5y…

Developmental, Familial and Educational Characteristics of a Sample of Children with Autism Spectrum Disorders in Greece

ERIC Educational Resources Information Center

Stampoltzis, Aglaia; Papatrecha, Virginia; Polychronopoulou, Stavroula; Mavronas, Dimitris

2012-01-01

The aim of this study is to describe the developmental, familial and educational characteristics of 91 children with a clinical diagnosis of autism spectrum disorders (ASDs), from one educational district of Athens, Greece. Records of the 91 children, aged 4-14 years old, were examined with respect to sex, age of diagnosis, type of ASDs, school…

Cognitive Profiles of Adults with Asperger's Disorder, High-Functioning Autism, and Pervasive Developmental Disorder Not Otherwise Specified Based on the WAIS-III

ERIC Educational Resources Information Center

Kanai, Chieko; Tani, Masayuki; Hashimoto, Ryuichiro; Yamada, Takashi; Ota, Haruhisa; Watanabe, Hiromi; Iwanami, Akira; Kato, Nobumasa

2012-01-01

Little is known about the cognitive profiles of high-functioning Pervasive Developmental Disorders (PDD) in adults based on the Wechsler Intelligence Scale III (WAIS-III). We examined cognitive profiles of adults with no intellectual disability (IQ greater than 70), and in adults with Asperger's disorder (AS; n = 47), high-functioning autism (HFA;…

Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills

ERIC Educational Resources Information Center

Sumner, Emma; Leonard, Hayley C.; Hill, Elisabeth L.

2016-01-01

Motor and social difficulties are often found in children with an autism spectrum disorder (ASD) and with developmental coordination disorder (DCD), to varying degrees. This study investigated the extent of overlap of these problems in children aged 7-10 years who had a diagnosis of either ASD or DCD, compared to typically-developing controls.…

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

PubMed Central

Cho, Eun-Kyung; Kim, Jinsup; Yang, Aram; Jin, Dong-Kyu

2017-01-01

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended. PMID:28690993

MINOR MALFORMATIONS AND PHYSICAL MEASURES IN AUTISM: DATA FROM NOVA SCOTIA. (R824758)

EPA Science Inventory

In the context of an epidemiological study of autism in Nova Scotia, subjects were evaluated for minor physical anomalies and physical measurements. Normal control children, children with autism and their siblings, and children with developmental disabilities and their siblings w...

75 FR 24706 - Agency Forms Undergoing Paperwork Reduction Act Review

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-05

... mandated CDC to establish autism surveillance and research programs to address the number, incidence, correlates, and causes of autism and related disabilities. Under the provisions of this act, CDC funded five Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) including the...

Understanding Autism: Working with the Challenges Autism Brings

ERIC Educational Resources Information Center

Greenspan, Stanley I.

2006-01-01

Autism is a developmental disorder that involves many challenges. Autistic children have trouble forming relationships. They also have difficulty understanding and responding to emotional signals from others. Other challenges include using language, using words creatively, using imagination, and, later, thinking abstractly. These are the core…

Examining the Criterion-Related Validity of the Pervasive Developmental Disorder Behavior Inventory

ERIC Educational Resources Information Center

McMorris, Carly A.; Perry, Adrienne

2015-01-01

The Pervasive Developmental Disorder Behavior Inventory is a questionnaire designed to aid in the diagnosis of pervasive developmental disorders or autism spectrum disorders. The Pervasive Developmental Disorder Behavior Inventory assesses adaptive and maladaptive behaviors associated with pervasive developmental disorders and provides an…

Oxytocin, vasopressin, and autism: is there a connection?

PubMed

Insel, T R; O'Brien, D J; Leckman, J F

1999-01-15

Autism is a poorly understood developmental disorder characterized by social impairment, communication deficits, and compulsive behavior. The authors review evidence from animal studies demonstrating that the nonapeptides, oxytocin and vasopressin, have unique effects on the normal expression of species-typical social behavior, communication, and rituals. Based on this evidence, they hypothesize that an abnormality in oxytocin or vasopressin neurotransmission may account for several features of autism. As autism appears to be a genetic disorder, mutations in the various peptide, peptide receptor, or lineage-specific developmental genes could lead to altered oxytocin or vasopressin neurotransmission. Many of these genes have been cloned and sequenced, and several polymorphisms have been identified. Recent gene targeting studies that alter expression of either the peptides or their receptors in the rodent brain partially support the autism hypothesis. While previous experience suggests caution in hypothesizing a cause or suggesting a treatment for autism, the available preclinical evidence with oxytocin and vasopressin recommends the need for clinical studies using gene scanning, pharmacological and neurobiological approaches.

The Effect of Brief Delays to Reinforcement on the Acquisition of Tacts in Children with Autism

ERIC Educational Resources Information Center

Majdalany, Lina; Wilder, David A.; Smeltz, Lindsay; Lipschultz, Joshua

2016-01-01

We used discrete-trial training to teach 3 children with autism to tact shapes of countries using 3 levels of reinforcement delay for correct responding: 0 s (immediate delivery), 6 s, and 12 s. Two of the 3 participants acquired the targets more quickly in the immediate-delivery condition, suggesting that delays as brief as 6 s may be detrimental…

Links between theory of mind and executive function in young children with autism: clues to developmental primacy.

PubMed

Pellicano, Elizabeth

2007-07-01

There has been much theoretical discussion of a functional link between theory of mind (ToM) and executive function (EF) in autism. This study sought to establish the relationship between ToM and EF in young children with autism (M = 5 years, 6 months) and to examine issues of developmental primacy. Thirty children with autism and 40 typically developing children, matched on age and ability, were assessed on a battery of tasks measuring ToM (1st- and 2nd-order false belief) and components of EF (planning, set shifting, inhibition). A significant correlation emerged between ToM and EF variables in the autism group, independent of age and ability, while ToM and higher order planning ability remained significantly related in the comparison group. Examination of the pattern of ToM-EF impairments in the autism group revealed dissociations in 1 direction only: impaired ToM with intact EF. These findings support the view that EF may be 1 important factor in the advancement of ToM understanding in autism. The theoretical implications of these findings are discussed. Copyright 2007 APA.

Delayed Self-Recognition in Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Lind, Sophie E.; Bowler, Dermot M.

2009-01-01

This study aimed to investigate temporally extended self-awareness (awareness of one's place in and continued existence through time) in autism spectrum disorder (ASD), using the delayed self-recognition (DSR) paradigm (Povinelli et al., Child Development 67:1540-1554, 1996). Relative to age and verbal ability matched comparison children, children…

Relationship between early motor delay and later communication delay in infants at risk for autism

PubMed Central

Bhat, A. N.; Galloway, J. C.; Landa, R. J.

2012-01-01

Background Motor delays have been reported in retrospective studies of young infants who later develop Autism Spectrum Disorders (ASDs). Objective In this study, we prospectively compared the gross motor development of a cohort at risk for ASDs; infant siblings of children with ASDs (AU sibs) to low risk typically developing (LR) infants. Methods 24 AU sibs and 24 LR infants were observed at 3 and 6 months using a standardized motor measure, the Alberta Infant Motor Scale (AIMS). In addition, as part of a larger study, the AU sibs also received a follow-up assessment to determine motor and communication performance at 18 months using the Mullen Scales of Early Learning. Results Significantly more AU sibs showed motor delays at 3 and 6 months than LR infants. The majority of the AU sibs showed both early motor delays and later communication delays. Limitations Small sample size and limited follow-up. Conclusions Early motor delays are more common in infant AU sibs than LR infants. Communication delays later emerged in 67–73% of the AU sibs who had presented with early motor delays. Overall, early motor delays may be predictive of future communication delays in children at risk for autism. PMID:22982285

A Controlled Study of Mercury Levels in Hair Samples of Children with Autism as Compared to Their Typically Developing Siblings

ERIC Educational Resources Information Center

Williams, P. Gail; Hersh, Joseph H.; Allard, AnnaMary; Sears, Lonnie L.

2008-01-01

Autism is a developmental disability characterized by severe, pervasive deficits in social interaction, communication and range of interests and activities. The neurobiologic basis of autism is well accepted, although the specific etiology is unknown. It has been theorized that autism may result from a combination of predisposing genes and…

DSM-5 under-Identifies PDDNOS: Diagnostic Agreement between the DSM-5, DSM-IV, and Checklist for Autism Spectrum Disorder

ERIC Educational Resources Information Center

Mayes, Susan Dickerson; Black, Amanda; Tierney, Cheryl D.

2013-01-01

Agreement between the DSM-5, DSM-IV, and Checklist for Autism Spectrum Disorder was assessed in 125 children with autism spectrum disorder (ASD), which included high and low functioning autism (HFA and LFA) and pervasive developmental disorder not otherwise specified (PDDNOS), and children with other clinical disorders (e.g., ADHD, mental…

Addressing the Needs of Children with Autism: An Evaluation of a Gymnastics Program for Children with Autism and Related Disorders.

ERIC Educational Resources Information Center

Leahy, Cynthia; Rarig, Monica; Chambliss, Catherine

This paper describes and evaluates a gymnastic program for children (ages 4-9) with autism and related developmental disorders. An introductory section reviews the literature on characteristics of children with autism and discusses how traditional education is inadequate for such children. Review of the literature on effective interventions notes…

Differentiation of Speech Delay and Global Developmental Delay in Children Using DTI Tractography-Based Connectome.

PubMed

Jeong, J-W; Sundaram, S; Behen, M E; Chugani, H T

2016-06-01

Pure speech delay is a common developmental disorder which, according to some estimates, affects 5%-8% of the population. Speech delay may not only be an isolated condition but also can be part of a broader condition such as global developmental delay. The present study investigated whether diffusion tensor imaging tractography-based connectome can differentiate global developmental delay from speech delay in young children. Twelve children with pure speech delay (39.1 ± 20.9 months of age, 9 boys), 14 children with global developmental delay (39.3 ± 18.2 months of age, 12 boys), and 10 children with typical development (38.5 ± 20.5 months of age, 7 boys) underwent 3T DTI. For each subject, whole-brain connectome analysis was performed by using 116 cortical ROIs. The following network metrics were measured at individual regions: strength (number of the shortest paths), efficiency (measures of global and local integration), cluster coefficient (a measure of local aggregation), and betweeness (a measure of centrality). Compared with typical development, global and local efficiency were significantly reduced in both global developmental delay and speech delay (P < .0001). The nodal strength of the cognitive network is reduced in global developmental delay, whereas the nodal strength of the language network is reduced in speech delay. This finding resulted in a high accuracy of >83% ± 4% to discriminate global developmental delay from speech delay. The network abnormalities identified in the present study may underlie the neurocognitive and behavioral consequences commonly identified in children with global developmental delay and speech delay. Further validation studies in larger samples are required. © 2016 by American Journal of Neuroradiology.

Reduced Face Identity Aftereffects in Relatives of Children with Autism

ERIC Educational Resources Information Center

Fiorentini, Chiara; Gray, Laura; Rhodes, Gillian; Jeffery, Linda; Pellicano, Elizabeth

2012-01-01

Autism is a pervasive developmental condition with complex aetiology. To aid the discovery of genetic mechanisms, researchers have turned towards identifying potential endophenotypes--subtle neurobiological or neurocognitive traits present in individuals with autism and their "unaffected" relatives. Previous research has shown that relatives of…

Receptive Vocabulary Knowledge in Low-Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related Potentials

DTIC Science & Technology

2011-06-01

questionnaire for Asperger Syndrome and other high-functioning autism spectrum disorders in school age children. Journal of Autism & Developmental...10-1-0404 TITLE: Receptive Vocabulary Knowledge in Low-Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related...W81XWH-10-1-0404 Receptive Vocabulary Knowledge in Low-Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related

Receptive Vocabulary Knowledge in Low-Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related Potentials

DTIC Science & Technology

2012-06-01

for Asperger Syndrome and other high-functioning autism spectrum disorders in school age children. Journal of Autism & Developmental Disorders, 29...Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related Potentials PRINCIPAL INVESTIGATOR: Barry Gordon...Knowledge in Low-Functioning Autism as Assessed by Eye- Movements, Pupillary Dilation, and Event-Related Potentials 5b. GRANT NUMBER W81XWH-10-1-0404

Pica

MedlinePlus

... adults with intellectual and developmental disabilities, such as autism. On rare occasions, pregnant women crave strange, nonfood ... lead poisoning, ulcers, infections, or intestinal tears? Resources Autism Speaks, Pica Last Updated: January 4, 2017 This ...

Preference for Geometric Patterns Early in Life as a Risk Factor for Autism

PubMed Central

Pierce, Karen; Conant, David; Hazin, Roxana; Stoner, Richard; Desmond, Jamie

2016-01-01

Context Early identification efforts are essential for the early treatment of the symptoms of autism but can only occur if robust risk factors are found. Children with autism often engage in repetitive behaviors and anecdotally prefer to visually examine geometric repetition, such as the moving blade of a fan or the spinning of a car wheel. The extent to which a preference for looking at geometric repetition is an early risk factor for autism has yet to be examined. Objectives To determine if toddlers with an autism spectrum disorder (ASD) aged 14 to 42 months prefer to visually examine dynamic geometric images more than social images and to determine if visual fixation patterns can correctly classify a toddler as having an ASD. Design Toddlers were presented with a 1-minute movie depicting moving geometric patterns on 1 side of a video monitor and children in high action, such as dancing or doing yoga, on the other. Using this preferential looking paradigm, total fixation duration and the number of saccades within each movie type were examined using eye tracking technology. Setting University of California, San Diego Autism Center of Excellence. Participants One hundred ten toddlers participated in final analyses (37 with an ASD, 22 with developmental delay, and 51 typical developing toddlers). Main Outcome Measure Total fixation time within the geometric patterns or social images and the number of saccades were compared between diagnostic groups. Results Overall, toddlers with an ASD as young as 14 months spent significantly more time fixating on dynamic geometric images than other diagnostic groups. If a toddler spent more than 69% of his or her time fixating on geometric patterns, then the positive predictive value for accurately classifying that toddler as having an ASD was 100%. Conclusion A preference for geometric patterns early in life may be a novel and easily detectable early signature of infants and toddlers at risk for autism. PMID:20819977

Sex Differences in Autism Spectrum Disorder: An Examination of Developmental Functioning, Autistic Symptoms, and Coexisting Behavior Problems in Toddlers

ERIC Educational Resources Information Center

Hartley, Sigan L.; Sikora, Darryn M.

2009-01-01

Little is known about the female presentation of autism spectrum disorder (ASD) during early childhood. We investigated sex differences in developmental profiles using the Mullen Scales of Early Learning, autistic symptoms on the ADOS-G, and coexisting behavior problems on the CBCL in 157 boys and 42 girls with ASD aged 1.5-3.9 years. Overall,…

Beyond Modularisation: The Need of a Socio-Neuro-Constructionist Model of Autism

ERIC Educational Resources Information Center

López, Beatriz

2015-01-01

Autism is a "developmental" disorder defined by "social and communication" impairments. Current theoretical approaches and research studies however conceptualise autism as both static and independent from the social context in which it develops. Two lines of research stand out from this general trend. First, research from the…

75 FR 23772 - Agency Information Collection Activities: Submission for OMB Review; Comment Request

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-04

... Project: Combating Autism Act Initiative Evaluation (New) . Background: In response to the growing need for research and resources devoted to autism spectrum disorder (ASD) and other developmental disorders (DD), the U.S. Congress passed the Combating Autism Act (CAA) in 2006. This Act authorized Federal...

78 FR 52536 - Agency Information Collection Activities: Proposed Collection: Public Comment Request

Federal Register 2010, 2011, 2012, 2013, 2014

2013-08-23

.... Information Collection Request Title: Combating Autism Act Initiative Evaluation (OMB No. 0915-0335 [Revision] Abstract: In response to the growing need for research and resources devoted to autism spectrum disorders (ASD) and other developmental disabilities (DD), the U.S. Congress passed the Combating Autism Act (CAA...

Relationship Satisfaction, Parenting Stress, and Depression in Mothers of Children with Autism

ERIC Educational Resources Information Center

Weitlauf, Amy S.; Vehorn, Alison C.; Taylor, Julie L.; Warren, Zachary E.

2014-01-01

Mothers of children with autism report higher levels of depression than mothers of children with other developmental disabilities. We explored the relations between child characteristics of diagnostic severity and problem behaviors, parenting stress, relationship quality, and depressive symptoms in 70 mothers of young children with autism. We…

Stop, Think, Proceed: Solving Problems in the Real World

ERIC Educational Resources Information Center

Isbell, Jackie S.; Jolivette, Kristine

2011-01-01

Prevalence reports indicate approximately half of all children diagnosed with autism spectrum disorder (ASD) have a mild form of the disorder such as high-functioning autism, Asperger syndrome, or pervasive developmental disorder--not otherwise specified. These disorders are referred to collectively as high-functioning autism spectrum disorders…

Interventions Targeting Attention in Young Children with Autism

ERIC Educational Resources Information Center

Patten, Elena; Watson, Linda R.

2011-01-01

Purpose: The ability to focus and sustain one's attention is critical for learning. Children with autism demonstrate unusual characteristics of attention from infancy. It is reasonable to assume that early anomalies in attention influence a child's developmental trajectories. Therapeutic interventions for autism often focus on core features of…

Neural Correlates of Verbal and Nonverbal Semantic Integration in Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

McCleery, Joseph P.; Ceponiene, Rita; Burner, Karen M.; Townsend, Jeanne; Kinnear, Mikaela; Schreibman, Laura

2010-01-01

Background: Autism is a pervasive developmental disorder characterized by deficits in social-emotional, social-communicative, and language skills. Behavioral and neuroimaging studies have found that children with autism spectrum disorders (ASD) evidence abnormalities in semantic processing, with particular difficulties in verbal comprehension.…

Theory of Mind Predicts Severity Level in Autism

ERIC Educational Resources Information Center

Hoogenhout, Michelle; Malcolm-Smith, Susan

2017-01-01

We investigated whether theory of mind skills can indicate autism spectrum disorder severity. In all, 62 children with autism spectrum disorder completed a developmentally sensitive theory of mind battery. We used intelligence quotient, "Diagnostic and Statistical Manual of Mental Disorders" (4th ed.) diagnosis and level of support…

Emotional, developmental, and behavioral health of American children and their families: a report from the 2003 National Survey of Children's Health.

PubMed

Blanchard, Laura T; Gurka, Matthew J; Blackman, James A

2006-06-01

Recent children's health surveys have documented a high prevalence of emotional, developmental, and behavioral problems among children. Data from the 2003 National Survey of Children's Health provide new insights into these problems and their association with family function and community participation. These issues have become a current focus of the World Health Organization. Answers to questions of interest from the 2003 National Survey of Children's Health were reported using estimates and SEs of rates. Statistical comparisons of rates with chi2 tests at the 0.05 level were made when relevant. The most commonly diagnosed problems among children 6-17 years of age were learning disabilities (11.5%), attention-deficit/hyperactivity disorder (8.8%), and behavioral problems (6.3%); among preschoolers, speech problems (5.8%) and developmental delay (3.2%) were most common. One in 200 children was diagnosed with autism. In contrast, rates of parental concerns about emotional, developmental, or behavioral problems were much higher; for example, 41% of parents had concerns about learning difficulties and 36% about depression or anxiety. Children with developmental problems had lower self-esteem, more depression and anxiety, more problems with learning, missed more school, and were less involved in sports and other community activities. Their families experienced more difficulty in the areas of childcare, employment, parent-child relationships, and caregiver burden. The most recent National Survey of Children's Health mirrored results of previous surveys regarding rates of diagnosed emotional, developmental, and behavioral problems, including an escalating diagnosis of autism among children. Reported rates of parental concerns about these problems were much higher, suggesting possible underdiagnosis of children's problems. Children with chronic problems had diminished family functioning, more school absences, and less participation in community activities compared with other children. Their parents experienced more difficulty with childcare, employment, and parenting skills. A change in treatment emphasis is needed, away from an exclusive focus on a child's developmental and behavioral problems to one that addresses the impacts of these problems on the family and community participation. A new approach to the way these issues are addressed and managed has the potential to enhance the quality of life for a child, as well as the parents, and to produce more meaningful and tangible solutions to these complex and increasingly evident problems.

Grammaticality Judgments in Autism: Deviance or Delay

ERIC Educational Resources Information Center

Eigsti, Inge-Marie; Bennetto, Loisa

2009-01-01

Language in autism has been the subject of intense interest, because communication deficits are central to the disorder, and because autism serves as an arena for testing theories of language acquisition. High-functioning older children with autism are often considered to have intact grammatical abilities, despite pragmatic impairments. Given the…

Reduced Delay of Gratification and Effortful Control among Young Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Faja, Susan; Dawson, Geraldine

2015-01-01

We explored internal control of behavior using direct observation and parent report. Previous research has found that both the delay of gratification task and parent-reported effortful control predict later social ability and more positive outcomes in typically developing children. Children with autism spectrum disorder have previously been…

Steps in Theory-of-Mind Development for Children with Deafness or Autism

ERIC Educational Resources Information Center

Peterson, Candida C.; Wellman, Henry M.; Liu, David

2005-01-01

Prior research demonstrates that understanding theory of mind (ToM) is seriously and similarly delayed in late-signing deaf children and children with autism. Are these children simply delayed in timing relative to typical children, or do they demonstrate different patterns of development? The current research addressed this question by testing…

A Comparison of Flexible Prompt Fading and Constant Time Delay for Five Children with Autism

ERIC Educational Resources Information Center

Soluaga, Doris; Leaf, Justin B.; Taubman, Mitchell; McEachin, John; Leaf, Ron

2008-01-01

Given the increasing rates of autism, identifying prompting procedures that can assist in the development of more optimal learning opportunities for this population is critical. Extensive empirical research exists supporting the effectiveness of various prompting strategies. Constant time delay (CTD) is a highly implemented prompting procedure…

Brief Report: Screening Tool for Autism in Two-Year-Olds (STAT): Development and Preliminary Data.

ERIC Educational Resources Information Center

Stone, Wendy L.; Coonrod, Elaine E.; Ousley, Opal Y.

2000-01-01

A study examined the validity of the Screening Tool for Autism in Two-Year-Olds (STAT) as a stage 2 screening instrument in a clinic-based sample of two-year-olds with autism (n=12) and with nonautistic developmental disorders (n=21). Results provide preliminary support for the utility of the STAT as an early screening of autism. (Contains…

Comparison of a Broad-Based Screen versus Disorder-Specific Screen in Detecting Young Children with an Autism Spectrum Disorder

ERIC Educational Resources Information Center

Wiggins, Lisa D; Piazza, Vivian; Robins, Diana L

2014-01-01

The goals of our study were to (a) compare agreement between autism spectrum disorder diagnosis and outcome of the Modified Checklist for Autism in Toddlers and Parents Evaluation of Developmental Status in a sample of toddlers and (b) examine specific concerns noted for toddlers who screened negative on the Modified Checklist for Autism in…

Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes

DTIC Science & Technology

2012-12-05

Bisgaier J, Levinson D, Cutts DB, & Rhodes KV., (2011) Access to autism evaluation appointments with developmental-behavioral and neurodevelopmental ...W403 Columbus, OH 43205 Final Report Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes...QFOXGHDUHDFRGH 1.0 Summary In 2006, the Central Ohio Registry for Autism (CORA) was initiated as a collaboration between Wright-Patterson Air

Training Adults with an Autism Spectrum Disorder to Conduct Discrete-Trial Training for Young Children with Autism: A Pilot Study

ERIC Educational Resources Information Center

Lerman, Dorothea C.; Hawkins, Lynn; Hoffman, Rachel; Caccavale, Mia

2013-01-01

We evaluated a behavioral skills training program for adults with autism spectrum disorder and mild or no intellectual disabilities who were interested in learning the skills used by behavior therapists to work with young children with autism and other developmental disabilities. Four adults, aged 21 to 30 years, participated. We trained each…

A Description of Medical Conditions in Adults with Autism Spectrum Disorder: A Follow-Up of the 1980s Utah/UCLA Autism Epidemiologic Study

ERIC Educational Resources Information Center

Jones, Kyle B.; Cottle, Kristina; Bakian, Amanda; Farley, Megan; Bilder, Deborah; Coon, Hilary; McMahon, William M.

2016-01-01

This study describes medical conditions experienced by a population-based cohort of adults with autism spectrum disorder whose significant developmental concerns were apparent during childhood. As part of a 25-year outcome study of autism spectrum disorder in adulthood, medical histories were collected on 92 participants (N = 69 males) who were…

Mental health in the United States: parental report of diagnosed autism in children aged 4-17 years--United States, 2003-2004.

PubMed

2006-05-05

Autism is a lifelong neurodevelopmental disorder characterized by early onset of impairments in social interaction and communication and unusual, stereotyped behaviors. Autism (i.e., autistic disorder) often is classified with two related, although less severe, developmental disorders: Asperger disorder and pervasive developmental disorder--not otherwise specified. These three constitute the autism spectrum disorders (ASDs). Diagnosis of ASDs is based exclusively on developmental pattern and behavioral observation. Two population-based studies conducted by CDC in selected U.S. locations reported ASD prevalence of 3.4 and 6.7 per 1,000 children, respectively. CDC also conducts two nationally representative surveys, the National Health Interview Survey (NHIS) and the National Survey of Children's Health (NSCH), in which parents are asked whether their child ever received a diagnosis of autism. Because of similarities in methodology used by the two surveys, CDC analyzed 2003-2004 data from NHIS and data from the first-ever NSCH (collected during January 2003-July 2004) to 1) estimate the population-based prevalence of parental report of diagnosed autism in the United States and 2) assess parental reporting of child social, emotional, and behavioral strengths and difficulties and special-health care needs among children with and without reported autism. This report describes the results of that analysis, which indicated that the prevalence of parent-reported diagnosis of autism was 5.7 per 1,000 children in NHIS and 5.5 per 1,000 children in NSCH. Prevalence estimates in the two studies were similar across age, sex, and racial/ethnic populations. The consistency in estimates between the two surveys suggests high reliability for parental report of autism. These estimates suggest that, as of 2003-2004, autism had been diagnosed in at least 300,000 U.S. children aged 4-17 years. In addition, parental reports of autism were associated with reported social, emotional, and behavioral symptoms and specialized needs. Thus, these surveys might be useful to assess health, education, and social service needs of children with autism.

A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease.

PubMed

Zheng, Xiaojing; Demirci, F Yesim; Barmada, M Michael; Richardson, Gale A; Lopez, Oscar L; Sweet, Robert A; Kamboh, M Ilyas; Feingold, Eleanor

2014-01-01

Epidemiological and genetic studies suggest that schizophrenia and autism may share genetic links. Besides common single nucleotide polymorphisms, recent data suggest that some rare copy number variants (CNVs) are risk factors for both disorders. Because we have previously found that schizophrenia and psychosis in Alzheimer's disease (AD+P) share some genetic risk, we investigated whether CNVs reported in schizophrenia and autism are also linked to AD+P. We searched for CNVs associated with AD+P in 7 recurrent CNV regions that have been previously identified across autism and schizophrenia, using the Illumina HumanOmni1-Quad BeadChip. A chromosome 16p11.2 duplication CNV (chr16: 29,554,843-30,105,652) was identified in 2 of 440 AD+P subjects, but not in 136 AD subjects without psychosis, or in 593 AD subjects with intermediate psychosis status, or in 855 non-AD individuals. The frequency of this duplication CNV in AD+P (0.46%) was similar to that reported previously in schizophrenia (0.46%). This duplication CNV was further validated using the NanoString nCounter CNV Custom CodeSets. The 16p11.2 duplication has been associated with developmental delay, intellectual disability, behavioral problems, autism, schizophrenia (SCZ), and bipolar disorder. These two AD+P patients had no personal of, nor any identified family history of, SCZ, bipolar disorder and autism. To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis.

Use of acetaminophen (paracetamol) during pregnancy and the risk of autism spectrum disorder in the offspring.

PubMed

Andrade, Chittaranjan

2016-02-01

Acetaminophen (paracetamol) is available over the counter in most countries and is widely considered to be safe for use during pregnancy; studies report gestational exposures to acetaminophen that lie in the 46%-65% range. Acetaminophen influences inflammatory and immunologic mechanisms and may predispose to oxidative stress; these and other effects are hypothesized to have the potential to compromise neurodevelopment in the fetal and infant brain. Two ecological studies suggested that population-level trends in the use of acetaminophen were associated with trends in the incidence/prevalence of autism; one of these studies specifically examined acetaminophen use during pregnancy. One large prospective observational cohort study found that gestational exposure to acetaminophen (especially when the duration of exposure was 28 days or more) was associated with motor milestone delay, gross and fine motor impairments, communication impairment, impairments in internalizing and externalizing behaviors, and hyperactivity, all at age 3 years; however, social and emotional developmental behaviors were mostly unaffected. A very recent large cohort study with a 12.7-year follow-up found that gestational exposure to acetaminophen was associated with an increased risk of autism spectrum disorder, but only when a hyperkinetic disorder was also present. In the light of existing data associating acetaminophen use during pregnancy and subsequent risk of attention-deficit/hyperactivity disorder, this new finding suggests that the predisposition, if any, is toward the hyperkinetic syndrome rather than to autism. In summary, the empirical data are very limited, but whatever empirical data exist do not support the suggestion that the use of acetaminophen during pregnancy increases the risk of autism in the offspring. © Copyright 2016 Physicians Postgraduate Press, Inc.

Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome.

PubMed

Lo, Sin Ting; Siemensma, Elbrich; Collin, Philippe; Hokken-Koelega, Anita

2013-09-01

In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (β=0.662, p<0.001, adj.R(2)=0.407), in particular with verbal IQ (β=0.502, p=0.001, adj.R(2)=0.409), but not with performal IQ (β=0.241, p>0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (β=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child's level of social cognitive functioning. Copyright © 2013 Elsevier Ltd. All rights reserved.

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PubMed

Lozano, Reymundo; Vino, Arianna; Lozano, Cristina; Fisher, Simon E; Deriziotis, Pelagia

2015-12-01

FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language deficits. We report on a female child with a history of severe hypotonia, autism spectrum disorder and mild intellectual disability with severe speech/language impairment. Clinical exome sequencing identified a heterozygous de novo FOXP1 variant c.1267_1268delGT (p.V423Hfs*37). Functional analyses using cellular models show that the variant disrupts multiple aspects of FOXP1 activity, including subcellular localization and transcriptional repression properties. Our findings highlight the importance of performing functional characterization to help uncover the biological significance of variants identified by genomics approaches, thereby providing insight into pathways underlying complex neurodevelopmental disorders. Moreover, our data support the hypothesis that de novo variants represent significant causal factors in severe sporadic disorders and extend the phenotype seen in individuals with FOXP1 haploinsufficiency.

Autism and heritable bone fragility: A true association?

PubMed

Balasubramanian, Meena; Jones, Rebecca; Milne, Elizabeth; Marshall, Charlotte; Arundel, Paul; Smith, Kath; Bishop, Nicholas J

2018-06-01

Osteogenesis Imperfecta (OI) is a heterogeneous condition mainly characterised by bone fragility; intelligence is reported to be normal. However, a minority of children seen also show symptomology consistent with an 'Autism Spectrum Disorder'. A joint genetics and psychology research study was undertaken to identify these patients using 'Gold Standard' research tools: Autism Diagnostic Inventory Revised (ADI-R); Autism Diagnostic Observation Schedule (ADOS) and undertake genetic analyses in them. A cohort of n  = 7 children with autistic traits and severe/complex OI were recruited to the study. The study was set-up to explore whether there was a genetic link between bone fragility and autism in a sub-set of patients with bone fragility identified with autism traits in our complex/severe OI clinic. This was not set-up as a prevalence study but rather an exploration of genetics in association with ADI/ADOS confirmed ASD and bone fragility. Standardised tools were used to confirm autism diagnosis. ADI and ADOS were completed by the Clinical Psychologist; ADI comprises a 93 item semi-structured clinical review with a diagnostic algorithm diagnosing Autism; ADOS is a semi-structured assessment of socialisation, communication and play/imagination which also provides a diagnostic algorithm. In patients recruited, those that fulfilled research criteria for diagnosis of autism using above tools were recruited to trio whole exome sequencing (WES). one patient had compound heterozygous variants in NBAS ; one patient had a variant in NRX1 ; one patient had a maternally inherited PLS3 variant; all the other patients in this cohort had pathogenic variants in COL1A1/COL1A2 . Although, not set out as an objective, we were able to establish that identifying autism had important clinical and social benefits for patients and their families in ensuring access to services, appropriate schooling, increased understanding of behaviour and support. It is important for clinicians looking after children with brittle bone disease, also referred to as Osteogenesis Imperfecta (OI) to be aware of early features of developmental delay/autistic traits especially with severe forms of OI as the emphasis is on their mobility and bone health. Ensuring appropriate assessment and access to services early-on will enable these patients to achieve their potential. Further investigations of genomics in bone fragility in relation to autism are required and dual diagnosis is essential for high quality clinical and educational provision.

A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders.

PubMed

Blake, Jerome; Hoyme, H Eugene; Crotwell, Patricia L

2013-01-01

Autism spectrum disorders (ASD) represent a common spectrum of developmental disabilities, sharing deficits in social interactions, communication and restricted interests or repetitive behaviors with difficult transitions. In this article, we review the history of the identification and classification of autism and the origin of the now widely-debunked autism/vaccine hypothesis. The differences between syndromal (complex) and non-syndromal (essential) autism are described and illustrated with case descriptions where appropriate. Finally, the evidence that autism is fundamentally a genetic disease is discussed, including family studies, the role of DNA copy number variation and known single gene mutations.

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

PubMed

Goodspeed, Kimberly; Newsom, Cassandra; Morris, Mary Ann; Powell, Craig; Evans, Patricia; Golla, Sailaja

2018-03-01

Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals. The first carries a small deletion but does not exhibit the typical facial features nor the typical pattern of developmental delay. The second exhibits typical facial features, but has attained more advanced motor and verbal skills than other reported cases to date. The third displays typical features of PTHS, however inherited a large chromosomal duplication involving TCF4 from his unaffected father with somatic mosaicism. To the authors' knowledge, this is the first chromosomal duplication case reported to date.

Pervasive developmental disorders: a 10-year review.

PubMed

Tanguay, P E

2000-09-01

To summarize recent advances about the nature, diagnosis, and treatment of pervasive developmental disorders. Review of Medline databases, books, and book chapters published between July 1989 and November 1999. Clinical and genetic studies support expansion of the concept of autism to include a broader spectrum of social communication handicaps. The prevalence of autism is approximately 1 per 2,000; the prevalence of autism and Asperger's disorder together is 1 per 1,000. The Checklist for Autism in Toddlers is a useful screening instrument for 18-month-old children; the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule are instruments of choice for research. Although twin and family studies clearly support genetic factors as important in autism, linkage analysis studies indicate that many genes may be involved. There is no one treatment of choice. Social-pragmatic approaches, augmented by individualized strategies and social coaching, may be best for teaching social communication skills. Pharmacological interventions have a limited role in improving social communication, but selective serotonin reuptake inhibitors and atypical neuroleptic medications may help ameliorate aggression, hyperactivity, and other secondary problems. Private and government agencies must continue to support basic and applied research.

States Grapple with Autism's Rising Tide. Special Education: Autism

ERIC Educational Resources Information Center

Kreck, Carol

2014-01-01

Autism Spectrum Disorders (ASD) are the fastest-growing developmental disability in the United States. In recognizing the increasing needs of children affected by ASD, as well as the associated financial implications for local governments, some states are re-assessing their current systems of support and looking for better and more efficient ways…

The River Street Autism Program: A Case Study of a Regional Service Center Behavioral Intervention Program

ERIC Educational Resources Information Center

Dyer, Kathleen; Martino, Gayle M.; Parvenski, Tom

2006-01-01

An urgent demand from Connecticut parents for behavioral intervention resulted in the development of the River Street Autism Program (RSAP). This research-to-practice program implements intervention service based on empirical research findings conducted with children diagnosed with autism and pervasive developmental disorders. RSAP is provided…

Spatial Relative Risk Patterns of Autism Spectrum Disorders in Utah

ERIC Educational Resources Information Center

Bakian, Amanda V.; Bilder, Deborah A.; Coon, Hilary; McMahon, William M.

2015-01-01

Heightened areas of spatial relative risk for autism spectrum disorders (ASD), or ASD hotspots, in Utah were identified using adaptive kernel density functions. Children ages four, six, and eight with ASD from multiple birth cohorts were identified by the Utah Registry of Autism and Developmental Disabilities. Each ASD case was gender-matched to…

Psychometric Properties of the STAT for Early Autism Screening

ERIC Educational Resources Information Center

Stone, Wendy L.; Coonrod, Elaine E.; Turner, Lauren M.; Pozdol, Stacie L.

2004-01-01

The STAT is an interactive screening measure for autism that assesses behaviors in the areas of play, communication, and imitation skills. In Study 1, signal detection procedures were employed to identify a cutoff score for the STAT using developmentally matched groups of 2-year-old children with autism and with nonspectrum disorders. The…

Epilepsy Among Children and Adolescents with Autism Spectrum Disorders: A Population-Based Study

ERIC Educational Resources Information Center

Jokiranta, Elina; Sourander, Andre; Suominen, Auli; Timonen-Soivio, Laura; Brown, Alan S.; Sillanpää, Matti

2014-01-01

The present population-based study examines associations between epilepsy and autism spectrum disorders (ASD). The cohort includes register data of 4,705 children born between 1987 and 2005 and diagnosed as cases of childhood autism, Asperger's syndrome or pervasive developmental disorders--not otherwise specified. Each case was matched to four…

Looking at Movies and Cartoons: Eye-Tracking Evidence from Williams Syndrome and Autism

ERIC Educational Resources Information Center

Riby, D.; Hancock, P. J. B.

2009-01-01

Background: Autism and Williams syndrome (WS) are neuro-developmental disorders associated with distinct social phenotypes. While individuals with autism show a lack of interest in socially important cues, individuals with WS often show increased interest in socially relevant information. Methods: The current eye-tracking study explores how…

78 FR 75356 - Agency Information Collection Activities: Submission to OMB for Review and Approval; Public...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-12-11

... Collection Request Title: Combating Autism Act Initiative Evaluation OMB No. 0915-0335 [Revision]. Abstract: In response to the growing need for research and resources devoted to autism spectrum disorders (ASD) and other developmental disabilities (DD), the U.S. Congress passed the Combating Autism Act (CAA) in...

Brief Report: Diminishing Geographic Variability in Autism Spectrum Disorders over Time?

ERIC Educational Resources Information Center

Hoffman, Kate; Vieira, Veronica M.; Daniels, Julie L.

2014-01-01

We investigated differences in the geographic distribution of autism spectrum disorders (ASD) over time in central North Carolina with data from the Autism and Developmental Disabilities Monitoring Network. Using generalized additive models and geographic information systems we produced maps of ASD risk in 2002-2004 and 2006-2008. Overall the risk…

When Autism Strikes: Families Cope with Childhood Disintegrative Disorder.

ERIC Educational Resources Information Center

Catalano, Robert A.

This book examines childhood disintegrative disorder, which is seen to be a disorder apart from autism although it has sometimes been called "late onset autism". The condition is characterized by sudden onset and severe developmental regression between 3 and 5 years of age after previously normal development. The long-term outcome is…

Magnetised Intragastric Foreign Body Collection and Autism: An Advice for Carers and Literature Review

ERIC Educational Resources Information Center

Rashid, Farhan; Davies, Laura; Iftikhar, S. Y.

2010-01-01

The pica phenomenon, where non-edible substances are repeatedly consumed, has been linked with developmental and behavioural disorders, particularly autism. The clinical presentation of foreign body ingestion in patients with autism is discussed, and recommendations for caregivers are provided based on the available literature. An 18-year-old man…

The Impacts of Home-Based Early Behavioural Intervention Programmes on Families of Children with Autism

ERIC Educational Resources Information Center

Trudgeon, Clare; Carr, Deborah

2007-01-01

Background: In the UK, Early Intensive Behavioural Intervention [EIBI] programmes typically are conducted within the homes of children with autism. Despite evidence for their effectiveness in producing appreciable developmental gains in children with autism, a concern expressed about EIBI programmes is that stressful effects from the high levels…

Three Diagnostic Systems for Autism: DSM-III, DSM-III-R, and ICD-10.

ERIC Educational Resources Information Center

Volkmar, Fred R.; And Others

1992-01-01

This paper compared clinicians' diagnosis and DSM-III (Diagnostic and Statistical Manual), DSM-III-R (Revised), and ICD-10 (International Classification of Diseases) diagnoses of 52 individuals with autism and 62 nonautistic, developmentally disordered individuals. The DSM-III-R system overdiagnosed the presence of autism, and ICD-10 closely…

Longitudinal Comparison between Male and Female Preschool Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Postorino, Valentina; Fatta, Laura Maria; De Peppo, Lavinia; Giovagnoli, Giulia; Armando, Marco; Vicari, Stefano; Mazzone, Luigi

2015-01-01

Epidemiological studies have highlighted a strong male bias in autism spectrum disorder (ASD), however few studies have examined gender differences in autism symptoms, and available findings are inconsistent. The aim of the present study is to investigate the longitudinal gender differences in developmental profiles of 30 female and 30 male…

The Expression of Caspases Is Enhanced in Peripheral Blood Mononuclear Cells of Autism Spectrum Disorder Patients

ERIC Educational Resources Information Center

Siniscalco, Dario; Sapone, Anna; Giordano, Catia; Cirillo, Alessandra; de Novellis, Vito; de Magistris, Laura; Rossi, Francesco; Fasano, Alessio; Maione, Sabatino; Antonucci, Nicola

2012-01-01

Autism and autism spectrum disorders (ASDs) are heterogeneous complex neuro-developmental disorders characterized by dysfunctions in social interaction and communication skills. Their pathogenesis has been linked to interactions between genes and environmental factors. Consistent with the evidence of certain similarities between immune cells and…

Brief Report: Developing Spatial Frequency Biases for Face Recognition in Autism and Williams Syndrome

ERIC Educational Resources Information Center

Leonard, Hayley C.; Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.

2011-01-01

The current study investigated whether contrasting face recognition abilities in autism and Williams syndrome could be explained by different spatial frequency biases over developmental time. Typically-developing children and groups with Williams syndrome and autism were asked to recognise faces in which low, middle and high spatial frequency…

A Community-Based Early Intervention Program for Toddlers with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Rollins, Pamela Rosenthal; Campbell, Michelle; Hoffman, Renee Thibodeau; Self, Kayli

2016-01-01

This study examined Pathways Early Autism Intervention, a community-based, parent-mediated, intensive behavioral and developmental intervention program for children with autism spectrum disorders that could be used as a model for state-funded early intervention programs. A single-subject, multiple-baseline, across-participants design was used.…

Brief Report: Emerging Services for Children with Autism Spectrum Disorders in Hong Kong (1960-2004)

ERIC Educational Resources Information Center

Wong, Virginia C. N.; Hui, Stella L. H.

2008-01-01

Early identification of autistic features in any child is important because there is potential for improvement by means of interventional, educational, or rehabilitative programs. Appropriate diagnosis of autism requires a dual-level approach--routine developmental surveillance and screening, and diagnosis and evaluation of autism. The historical…

Supporting Transitions: Cultural Connections for Adults with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Greenberg, Aliza; Levinsky-Raskin, Sheri

2017-01-01

Museums are well-positioned to engage adults with autism and other developmental differences both as visitors and employees. This article recounts the Museum Access Consortium's process to design and implement the project Supporting Transitions: Cultural Connections for People with Autism with the goal of calling attention to a large opportunity…

Working memory arrest in children with high-functioning autism compared to children with attention-deficit/hyperactivity disorder: results from a 2-year longitudinal study.

PubMed

Andersen, Per N; Skogli, Erik W; Hovik, Kjell T; Geurts, Hilde; Egeland, Jens; Øie, Merete

2015-05-01

The aim of this study was to analyse the development of verbal working memory in children with high-functioning autism compared to children with attention-deficit/hyperactivity disorder and typically developing children. A total of 34 children with high-functioning autism, 72 children with attention-deficit/hyperactivity disorder and 45 typically developing children (age 9-16 years) were included at baseline and followed up approximately 25 months later. The children were given a letter/number sequencing task to assess verbal working memory. The performance of children with high-functioning autism on verbal working memory did not improve after 2 years, while improvement was observed in children with attention-deficit/hyperactivity disorder and typically developing children. The results indicate a different developmental trajectory for verbal working memory in children with high-functioning autism compared to children with attention-deficit/hyperactivity disorder and typically developing children. More research is needed to construct a developmental framework more suitable for children with autism spectrum disorder. © The Author(s) 2014.

Family Studies of Sensorimotor and Neurocognitive Heterogeneity in Autism Spectrum Disorders (ASD)

DTIC Science & Technology

2013-09-01

Autism Spectrum Disorders (ASD) PRINCIPAL INVESTIGATOR: John Sweeney, Ph.D. CONTRACTING ORGANIZATION: University of Texas...in Autism Spectrum Disorders (ASD) 5b. GRANT NUMBER W81XWH-11-1-0738 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) John A. Sweeney, Ph.D.; Matthew W...Southwestern Medical Center Center for Autism and Developmental Disabilities 5323 Harry Hinds Boulevard, MC9086 Dallas, Texas 75390-9086

Genetics Home Reference: monoamine oxidase A deficiency

MedlinePlus

... may have features of other behavioral disorders, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). ... Health Topic: Attention Deficit Hyperactivity Disorder Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Genetic and ...

Quantifying social development in autism.

PubMed

Volkmar, F R; Carter, A; Sparrow, S S; Cicchetti, D V

1993-05-01

This study was concerned with the development of quantitative measures of social development in autism. Multiple regression equations predicting social, communicative, and daily living skills on the Vineland Adaptive Behavior Scales were derived from a large, normative sample and applied to groups of autistic and nonautistic, developmentally disordered children. Predictive models included either mental or chronological age and other relevant variables. Social skills in the autistic group were more than two standard deviations below those predicted by their mental age; an index derived from the ratio of actual to predicted social skills correctly classified 94% of the autistic and 92% of the nonautistic, developmentally disordered cases. The findings are consistent with the idea that social disturbance is central in the definition of autism. The approach used in this study has potential advantages for providing more precise measures of social development in autism.

Update on diagnostic classification in autism

PubMed Central

King, Bryan H.; Navot, Noa; Bernier, Raphael; Webb, Sara Jane

2016-01-01

Purpose of review In the lead up to and following the recent publication of the DSM-5, the diagnostic construct of autism has received intense scrutiny. Recent findings This article briefly reviews the history of the diagnosis of autism, the changes that have occurred in the diagnosis over time, and the rationale for change. The most significant changes being introduced with the DSM-5 are highlighted, as well as some of the concerns that will be a focus of attention with respect to the potential impacts going forward. Summary The categorical divisions that characterized the pervasive developmental disorders are now collapsed into a single entity, autism spectrum disorder. The final DSM-5 criteria have yet to be formally compared prospectively against prior criteria, but early indications suggest that the boundaries around the pervasive developmental disorders have not been substantially altered. PMID:24441420

Fragile Spectral and Temporal Auditory Processing in Adolescents with Autism Spectrum Disorder and Early Language Delay

ERIC Educational Resources Information Center

Boets, Bart; Verhoeven, Judith; Wouters, Jan; Steyaert, Jean

2015-01-01

We investigated low-level auditory spectral and temporal processing in adolescents with autism spectrum disorder (ASD) and early language delay compared to matched typically developing controls. Auditory measures were designed to target right versus left auditory cortex processing (i.e. frequency discrimination and slow amplitude modulation (AM)…

Syntax and Morphology in Danish-Speaking Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Brynskov, Cecilia; Eigsti, Inge-Marie; Jørgensen, Meta; Lemcke, Sanne; Bohn, Ocke-Schwen; Krøjgaard, Peter

2017-01-01

The current study examined delays in syntax and morphology, and vocabulary, in autism spectrum disorder (ASD). Children ages 4-6 years with ASD (n = 21) and typical development (n = 21), matched on nonverbal mental age, completed five language tasks. The ASD group had significant delays in both syntax and morphology, and vocabulary measures, with…