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Sample records for pressure palsies hnpp

  1. Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.

    PubMed

    Kramer, Mark; Ly, Amy; Li, Jun

    2016-01-01

    The phenotype HNPP (hereditary neuropathy with liability to pressure palsies) is caused by heterozygous deletion of the PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have been rare. In this article, we report the case of an asymptomatic woman with the HNPP mutation. After undergoing total knee arthroplasty, she developed a footdrop with prolonged recovery. We concluded (a) that the HNPP mutation may carry a high risk for certain surgical procedures not expected to cause neurologic deficits in normal patients and (b) that humans with the HNPP mutation can be asymptomatic. Lack of symptoms can contribute to underrecognition of the disease. PMID:26761923

  2. Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures

    PubMed Central

    Kramer, Mark; Ly, Amy; Li, Jun

    2016-01-01

    The phenotype HNPP (hereditary neuropathy with liability to pressure palsies) is caused by heterozygous deletion of the PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have been rare. In this article, we report the case of an asymptomatic woman with the HNPP mutation. After undergoing total knee arthroplasty, she developed a footdrop with prolonged recovery. We concluded (a) that the HNPP mutation may carry a high risk for certain surgical procedures not expected to cause neurologic deficits in normal patients and (b) that humans with the HNPP mutation can be asymptomatic. Lack of symptoms can contribute to underrecognition of the disease. PMID:26761923

  3. Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: a case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade.

    PubMed

    Bayrak, Ayşe Oytun; Battaloglu, Esra; Turker, Hande; Baris, Ibrahim; Oztas, Gurkan

    2009-06-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by recurrent mono-neuropathies secondary to minor trauma or compression. Whilst typical episodes of palsy generally become apparent during the second and the third decades, HNPP is rarely diagnosed in the first decade. We present the case of a 6-year-old patient to draw attention to the possibility of HNPP attacks in the first decade and the importance of detailed electrophysiological examination. PMID:18760885

  4. DNA analysis in Finnish patients with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed Central

    Silander, K; Halonen, P; Sara, R; Kalimo, H; Falck, B; Savontaus, M L

    1994-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is a dominantly inherited disorder that presents as recurrent mononeuropathies precipitated by apparently trivial traumas. The presence of a deletion in 17p11.2 was analysed in 13 Finnish families with HNPP. The deletion was found in all patients who were neurologically and neurophysiologically confirmed to have HNPP. In the problematic cases the detection of the gene defect is the method of choice in the diagnosis of HNPP. Analysis of DNA can also be used to detect clinically unaffected family members. Images PMID:7931393

  5. [Hereditary neuropathy with liability to pressure palsy (HNPP): a diagnostic trap].

    PubMed

    Ragois, P; Didailler, P; Rizzi, P

    2013-09-01

    The authors report two clinical cases of a rarely observed pathology in orthopedic surgery daily practice: hereditary neuropathy with liability to pressure palsy (HNPP), which leads to dysesthesiae, hypoesthesiae and regressive palsies. Onset, clinical signs and electromyographic abnormalities are described. Forensic consequences can occur in early postoperative period. Knowledge of this familial pathology allows precautionary measures at surgery and avoids unnecessary surgical revisions. PMID:23953745

  6. Characteristic features of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy in soldiers.

    PubMed

    Kim, Kyoung-Eun

    2014-11-15

    A brachial plexus lesion is not common in hereditary neuropathy with liability to pressure palsy (HNPP). We report the clinical and electrodiagnostic features of young soldiers with HNPP presenting with brachial plexopathy. By reviewing 2year medical records from Korean military hospitals, we identified soldiers with brachial plexus lesions. Among them, patients diagnosed with HNPP were determined and clinical and electrophysiological findings were compared between HNPP and non-HNPP patients with a brachial plexus lesion. Thirteen patients (6.8%) were diagnosed with HNPP among 189 patients with a brachial plexus lesion. Push-ups, as either a punishment or an exercise, was the most frequent preceding event in HNPP patients (76.9%), whereas it was rare in non-HNPP patients. The distal motor latency of the median nerve showed the highest sensitivity (90.9%) and specificity (100%) for HNPP in patients with a brachial plexus lesion. In conclusion, HNPP should be suspected in patients with brachial plexopathy if brachial plexopathy develops after push-ups or if the distal motor latency of median nerves is prolonged. PMID:25175852

  7. A report of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy: the value of complete electrodiagnostic testing.

    PubMed

    Bulusu, Srinivas; McMillan, Hugh J

    2011-09-01

    Patients with hereditary neuropathy with liability to pressure palsy (HNPP) typically present with a mononeuropathy (particularly peroneal or ulnar palsy) or a brachial plexopathy. Careful electrodiagnostic testing has an important role in establishing the diagnosis of HNPP differentiating this condition from other inherited or acquired neuropathies as well as obviating the need for unnecessary surgeries. We present a case of a patient who presented with a painless brachial plexopathy who was found to have multiple sites of segmental demyelination on nerve conduction studies, consistent with HNPP. We review the clinical and electrodiagnostic features of HNPP including the key electrodiagnostic findings to screen for this disorder. PMID:21988036

  8. Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.

    PubMed

    Karadima, Georgia; Koutsis, Georgios; Raftopoulou, Maria; Karletidi, Karolina-Maria; Zambelis, Thomas; Karandreas, Nikolaos; Panas, Marios

    2015-06-01

    There has been limited information from population studies regarding the overall frequency of the common 1.5-Mb 17p11.2 deletion and even scarcer data regarding the overall frequency of PMP22 micromutations in patients with a clinical suspicion of hereditary neuropathy with liability to pressure palsies (HNPP). We have analysed 100 consecutive Greek patients referred for HNPP genetic testing over a 15-year period to our Neurogenetics Unit in Athens, a reference centre for all regions of Greece. All patients were screened for the 1.5-Mb deletion and a selected subgroup of deletion-negative patients for PMP22 micromutations. Mutation-positive and mutation-negative patients were compared for various clinical parameters. In total, 54 mutation-positive patients were identified. In index cases, the deletion frequency was 47.8%, and the PMP22 micromutation frequency was 2.2%. Within mutation-positive patients, the common deletion represented 95.7% and PMP22 micromutations 4.3% of cases. Two previously reported PMP22 micromutations (c.364_365delCC and c.79-2A>G) were detected. HNPP index cases had a 2.8-1 male-to-female ratio, similar to mutation-negative patients. A typical phenotype (recurrent or isolated palsies) was present in 82.4% of symptomatic HNPP cases, significantly higher than mutation-negative patients. Sensitivity of proposed electrophysiological diagnostic criteria for HNPP was calculated at 95.7% and specificity at 80.5%. In conclusion, the common HNPP deletion accounts for ∼50% and PMP22 micromutations for ∼2% of cases in a large consecutive cohort of patients with suspected HNPP. The mutational and phenotypic spectrum of HNPP is similar in the Greek population compared with other populations. Proposed electrophysiological diagnostic criteria perform satisfactorily in everyday clinical practice. PMID:26110377

  9. DTI Study of Cerebral Normal-Appearing White Matter in Hereditary Neuropathy With Liability to Pressure Palsies (HNPP).

    PubMed

    Wang, Wei-Wei; Song, Chun-Li; Huang, Liang; Song, Qing-Wei; Liang, Zhan-Hua; Wei, Qiang; Hu, Jia-Ni; Miao, Yan-Wei; Wu, Bing; Xie, Lizhi

    2015-10-01

    The majority of previous studies on hereditary neuropathy with liability to pressure palsies (HNPP) were focused on peripheral nerves, whereas cerebral alterations in HNPP have been less attended to. In this work, Diffusion tensor imaging (DTI) was used to detect the changes in WM, especially in the normal-appearing white matter (NAWM) in HNPP patients for its sensitivity in probing the microstructure of WM, the sensitive metric was searched for probing cerebral alterations and the regional distribution of cerebral abnormalities was identified. Twelve HNPP patients and 12 age- and gender-matched healthy controls underwent the conventional MRI, DTI scan, and electrophysiological examination. The conventional MRI images were first analyzed to identify abnormal intense regions and the NAWM regions. NAWM refers to the white matter regions that do not include the lesions on conventional MRI. The apparent diffusion coefficient and fractional anisotropy (FA) values of the NAWM were then measured and compared between patient and control groups. The sensitivity and specificity of 3 methods and the cerebral regional distribution of MR signal abnormalities were further analyzed. Hyperintense foci were observed on T2 weighted image and fluid attenuated inversion recovery images in 6 patients. Compared to the controls, FA values of the patients were significantly lower in bilateral frontal, orbitofrontal, and temporal NAWMs; whereas the electrophysiological examination results of patients and controls exhibited no statistically significant difference. The sensitivity of FA value was higher than that of electrophysiological examination and conventional MRI. The majority of abnormal signals on conventional MRI images and abnormal FA values were located in the frontal and temporal lobes. The results of our study show cerebral WM changes in HNPP patients. FA value in DTI has been shown to be sensitive to the cerebral microstructural changes in HNPP. The frontal lobe is the

  10. Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP).

    PubMed

    Cortese, A; Piccolo, G; Lozza, A; Schreiber, A; Callegari, I; Moglia, A; Alfonsi, E; Pareyson, D

    2016-07-01

    Lower cranial and phrenic nerve involvement is exceptional in hereditary neuropathy with liability to pressure palsies (HNPP). Here we report the occurrence of reversible laryngeal and phrenic nerve involvement in a patient with HNPP. The patient recalled several episodes of reversible weakness and numbness of his feet and hands since the age of 30 years. His medical history was uneventful, apart from chronic obstructive pulmonary disease (COPD). At age 44, following severe weight loss, he presented with progressive dysphonia and hoarseness. EMG of cricoarytenoid and thyroarytenoid muscles and laryngeal fibroscopy confirmed vocal cord paralysis. These speech disturbances gradually regressed. Two years later, he reported rapidly worsening dyspnea. Electroneurography showed increased distal latency of the right phrenic nerve and diaphragm ultrasonography documented reduced right hemi-diaphragm excursion. Six months later and after optimization of CODP treatment, his respiratory function had improved and both phrenic nerve conduction and diaphragm excursion were completely restored. We hypothesize that chronic cough and nerve stretching in the context of CODP, together with severe weight loss, may have triggered the nerve paralysis in this patient. Our report highlights the need for optimal management of comorbidities such as CODP as well as careful control of weight in HNPP patients to avoid potentially harmful complications. PMID:27241821

  11. [Delayed paresis of the femoral nerve after total hip arthroplasty associated with hereditary neuropathy with liability to pressure palsies (HNPP)].

    PubMed

    Schuh, A; Dürr, V; Weier, H; Zeiler, G; Winterholler, M

    2004-07-01

    Delayed lesions of the femoral or sciatic nerve are a rare complication after total hip arthroplasty. Several cases in association with cement edges, scar tissue, broken cerclages, deep hematoma, or reinforcement rings have been published. We report about a 62-year-old female who developed a pure motor paresis of the quadriceps muscle 2 weeks after total hip arthroplasty. After electrophysiological evaluation had revealed an isolated femoral nerve lesion, revision of the femoral nerve was performed. During operative revision no pathologic findings could be seen. One week later the patient developed paralysis of the left wrist and finger extensors after using crutches. Electrophysiological evaluation revealed several nerve conduction blocks in physiological entrapments and the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) was established. Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare disease with increased vulnerability of the peripheral nerve system with mostly reversible sensorimotor deficits. It should be taken into consideration in cases of atypical findings of compression syndromes of peripheral nerves or delayed neuropathy, e. g., after total hip arthroplasty. PMID:15083272

  12. Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.

    PubMed Central

    Sessa, M; Nemni, R; Quattrini, A; Del Carro, U; Wrabetz, L; Canal, N

    1997-01-01

    We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological studies showed a mixed axonal-demyelinating sensory-motor polyneuropathy with focal slowing of conduction velocities at the common sites of entrapment. Morphological studies on sural nerve biopsy from the proband showed active axonal regeneration without typical tomacula. Molecular analysis confirmed the presence of a deletion of chromosome 17p11.2 in both patients. Our observation confirms the heterogeneity of hereditary liability to pressure palsies and the relevance of DNA testing for the diagnosis of this hereditary neuropathy. Images PMID:9391880

  13. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated to hereditary neuropathy with liability to pressure palsies (HNPP) and revealed after influenza AH1N1 vaccination.

    PubMed

    Remiche, Gauthier; Abramowicz, Marc; Mavroudakis, Nicolas

    2013-12-01

    Neurological complications of AH1N1 vaccination such as Guillain-Barré syndrome were described in the previous years. Several reports suggest that hereditary neuropathies may be a predisposing factor for immune-mediated neuropathies. We report the case of a 54-year-old female who developed chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) 5 weeks after AH1N1 vaccination. She had no previous neurological history, but neurophysiological features led us to suspect an underlying hereditary neuropathy. PMP22 gene analysis showed a typical deletion, confirming the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP). We observed a significant clinical and neurophysiological improvement of the neuropathy after intravenous immunoglobulin treatment. This is, to our knowledge, the first reported case of CIDP potentially triggered by AH1N1 vaccination. This and previous observations suggest that genetic-determined neuropathies could predispose to the occurrence of immune-mediated neuropathies. One must recall the possibility of a superimposed hereditary neuropathy like HNPP in patients with a clinical presentation of CIDP, especially when positive family history or unexpected neurophysiological features are present. PMID:24146347

  14. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stiffness.

    PubMed

    Lönnqvist, Tuula; Pihko, Helena

    2003-12-01

    The typical clinical presentation of hereditary neuropathy with liability to pressure palsies is an adult-onset recurrent, painless monoparesis. Electrophysiological abnormalities--decreased nerve conduction velocities and delayed distal latencies--can be detected even in asymptomatic patients. We describe a toddler, who presented with asymmetric toe walking, painful cramps and stiffness in the legs. He had calf hypertrophy, brisk tendon reflexes and bilateral Babinski signs and the electrophysiological examination was normal. The unlikely diagnosis of hereditary neuropathy with liability to pressure palsies was reached 5 years later, when the boy started to complain of episodic numbness and weakness in the upper extremities. His father, paternal aunt and grandmother had similar symptoms, but they had never been investigated. The typical 1.5 Mb deletion on chromosome 17p11.2-12 was found in our patient and his affected relatives. PMID:14678806

  15. Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability.

    PubMed

    Logroscino, G; Del Tedesco, F; Cambise, C; Coraci, D; Donati, F; Santilli, V; Padua, L

    2016-06-01

    Mononeuropathy after surgery may occur and hereditary neuropathy with liability to pressure palsies is a possible pathological condition related to paresis after hip surgery. We present a case of 66-year-old man presenting severe weakness at inferior limb muscles after hip prosthesis revision. Clinic and electrophysiology showed severe right fibular nerve damage and ultrasound found a marked enlargement of the same nerve, associated with focal enlargements in other nerves. A diagnosis of hereditary neuropathy with liability to pressure palsies was suspected and confirmed by genetic test. The patient gradually recovered returning to a normal daily active life. Ultrasound was crucial for diagnosis. The suspicion and diagnosis of latent neuropathy, which can occur after surgical intervention, may lead to a better understand of the risks of the surgery, specific for the patient, and avoid the wrong attribution to surgical malpractice. PMID:27084090

  16. [Hereditary neuropathy with liability to pressure palsies (HNPP) in hand surgery: reminds and warn against a usually unrecognised disease].

    PubMed

    Lazar, C-C; Auquit-Auckbur, I; Milliez, P-Y

    2007-12-01

    Tomacula is a rare hereditary disease due to a deletion on chromosome 17. Clinical presentation varies but patients usually complain of recurrent paraesthesiaes and palsies related to compression or trauma of a peripheral nerve. Diagnosis is based on electrophysiological studies, nerve biopsies and genetic tests. Implications for the patient and family members are a genetic counselling and some simple preventive measures. Although there is no curative treatment for this neuropathy, surgery can be useful for decompression of nerves and neurolysis. However, the surgical act increases the risk of nerve damage. Knowing about the diagnosis can help the patient and the surgical team avoid causing lesions. PMID:17030391

  17. Hereditary neuropathy with liability to pressure palsies occurring during military training.

    PubMed

    Delacour, H; Bompaire, F; Biale, L; Sallansonnet-Froment, M; Ceppa, F; Burnat, P

    2012-03-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant peripheral neuropathy characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression and trauma. Although HNPP has been well-described in literature, it often goes unrecognized. We report a case of HNPP occurring during military training to promote recognition and proper management of this entity. PMID:22545374

  18. Hereditary Neuropathy with Liability to Pressure Palsies.

    PubMed

    Choi, Hyoung Won; Kuntz, Nancy L

    2015-11-01

    Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion. PMID:26933540

  19. Is carpal tunnel decompression warranted for HNPP?

    PubMed

    Earle, Nicholas; Zochodne, Douglas W

    2013-12-01

    The role of carpal tunnel decompression surgery for patients that have hereditary neuropathy with liability to pressure palsy (HNPP) is currently unknown. Since recovery from carpal tunnel compression is often associated with remyelination or nodal reconstruction rather than axonal regeneration, it is uncertain whether the PMP22 deletion associated with HNPP interrupts myelin or nodal reconstitution. We describe two patients with genetically confirmed HNPP and symptomatic carpal tunnel syndrome that had clinical and electrophysiological improvement after surgical decompression. The findings indicate a capacity for conduction repair in HNPP. They also suggest a need for further investigation and discussion around whether to offer carpal tunnel decompression to symptomatic HNPP patients. PMID:24171697

  20. Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report.

    PubMed

    Kim, Se Hwa; Yang, Seung Nam; Yoon, Joon Shik; Park, Bum Jun

    2014-02-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. PMID:24639934

  1. Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

    PubMed Central

    Kim, Se Hwa; Yoon, Joon Shik; Park, Bum Jun

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. PMID:24639934

  2. Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies.

    PubMed

    Kawaguchi, Norihiko; Suzuki, Naoki; Tateyama, Maki; Takai, Yoshiki; Misu, Tatsuro; Nakashima, Ichiro; Itoyama, Yasuto; Aoki, Masashi

    2012-09-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. We present two cases of elderly-onset bilateral peroneal nerve palsies with diffuse muscle weakness in the lower limbs and glove-and-stocking type sensory disturbance. Both patients were diagnosed with HNPP by genetic analyses that detected deletions of chromosome 17p11.2 in peripheral myelin protein 22 genes. Their clinical courses suggested that the Japanese sitting style termed 'seiza', a way of sitting on the floor with the lower legs crossed under the thighs, was a precipitating factor for the bilateral peroneal nerve palsies. PMID:23185166

  3. Two Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies

    PubMed Central

    Kawaguchi, Norihiko; Suzuki, Naoki; Tateyama, Maki; Takai, Yoshiki; Misu, Tatsuro; Nakashima, Ichiro; Itoyama, Yasuto; Aoki, Masashi

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. We present two cases of elderly-onset bilateral peroneal nerve palsies with diffuse muscle weakness in the lower limbs and glove-and-stocking type sensory disturbance. Both patients were diagnosed with HNPP by genetic analyses that detected deletions of chromosome 17p11.2 in peripheral myelin protein 22 genes. Their clinical courses suggested that the Japanese sitting style termed ‘seiza’, a way of sitting on the floor with the lower legs crossed under the thighs, was a precipitating factor for the bilateral peroneal nerve palsies. PMID:23185166

  4. Hereditary neuropathy with liability to pressure palsies: the first publication (1947).

    PubMed

    Koehler, Peter J

    2003-04-01

    The first report of hereditary neuropathy with liability to pressure palsies (HNPP) was published in Dutch in 1947. The present paper makes it accessible in the English language. de Jong described two families, but only the cases from the first family may be considered to have had HNPP. Five persons from three generations had recurring peripheral neuropathies. de Jong hypothesized a hereditary disposition for the occurrence of neuropathies, but suggested a relationship with low vitamin B(1) levels. PMID:12682341

  5. Progress in molecular diagnosis of Charcot-Marie-Tooth-disease type 1 (CMT 1, HMSN I) and hereditary neuropathy with liability to pressure palsies (HNPP) by fluorescence in situ hybridization (FISH)-detection of a potential genetic mosaicism

    SciTech Connect

    Bathke, K.; Liehr. T.; Ekici, A.

    1994-09-01

    We tested 20 CMT 1 patients characterized according to the criteria of the European CMT consortium by Southern hybridization of MspI restricted genomic DNA with probes pVAW409R1, pVAW412Hec and pEW401HE. In 11 of the 20 CMT 1 cases (55%), we observed a duplication in 17q11.2; one patient had a dinucleotide insertion in exon 6 of the PO-gene (5%). One HNPP case had a typical 17p11.2 deletion. Analysis of CA-repeats was performed with primers RM11GT and Mfd41; SSCP-analysis of the PO, PMP22 and Cx32-genes is in progress. FISH was carried out with probe pVAW409R1. 125 interphase nuclei were analyzed for each proband by counting the signals per nucleus. Normal cells show a characteristic distribution of signals: 1 signal in 5.9% of nuclei, 2 in 86.3% and 3 in 7.8%. A duplication is indicated by a shift to 3 signals in more than approximately 60% and 2 in less than 25% of the nuclei. In contrast, the 17p11.2 deletion of the HNPP patient shifts to 82.4% of nuclei with a single hybridization signal versus 14.4% with 2 signals. We detected one case with significantly abnormal distribution of interphase nuclei hybridization signals compared to cultures of normal cells and to those with 17p11.2 duplication or deletion: 3.2% nuclei revealed 1 signal, 48.0% two signals and 48.8% 3 signals, indicating a pathogenic but moderate dosis increase compared to the throughout duplicated cases. FISH with probe pVAW409R1 is a versatile tool to detect the HNPP deletion both in interphase nuclei and in metaphase chromosomes. In CMT 1 disease interphase nuclei are required for FISH analysis due to the small duplication of 1.5 Mbp. In contrast to Southern techniques, FISH is able to detect genetic mosaicism.

  6. Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.

    PubMed

    Beydoun, Said R; Cho, Justin

    2013-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited autosomal dominant disorder that causes a polyneuropathy with predisposition for involvement at sites of compression and is often underdiagnosed or misdiagnosed due to its heterogeneity in clinical and electrophysiological presentation. We report 2 cases of HNPP, which were initially diagnosed and treated as either an acquired demyelinating disorder or alternative inherited demyelinating disorder. Thorough evaluation of repeat electrodiagnostic studies and genetic testing confirmed the diagnosis of HNPP in both cases. One case showed the classic peripheral myelin protein 22 (PMP22) deletion and the other case showed a previously reported single base pair deletion at Leu145 causing a frameshift mutation at the PMP22 gene. These cases underscore the difficulty of diagnosing HNPP, because of the variations in clinical and electrophysiological findings and reinforce the importance of a combination high index of clinical suspicion, electrodiagnostic testing, and genetic testing to make the diagnosis. PMID:23965407

  7. Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy.

    PubMed

    Heng, Hock S; Tang, Shan S; Goyal, Sushma; Wraige, Elizabeth A; Lim, Ming J

    2012-02-01

    Management of hereditary neuropathy with liability to pressure palsy (HNPP) is primarily conservative, aimed at preventing nerve injury by avoiding trauma or other potential aggravating factors. No pharmacological treatment is known to be beneficial. We describe two adolescents, one with HNPP (male; aged 15y) and another with a clinical picture suggestive of HNPP (genetically unconfirmed; female; aged 14y), who showed considerable improvement of their symptoms after receiving corticosteroid therapy. Both individuals were symptomatic for at least 5 months before the treatment. Following corticosteroids, both individuals demonstrated rapid improvement leading to near-complete recovery of muscle power. Clinical improvement after corticosteroid therapy has been reported in some individuals with other hereditary neuropathies. Our cases demonstrate that corticosteroid therapy may also be beneficial in individuals with HNPP who have a protracted or incomplete course of recovery. PMID:22098098

  8. Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.

    PubMed

    Koehler, Peter J; Baas, Frank

    2012-12-01

    In 1947, the Dutch neurologist De Jong published the first family with, what later would be called, hereditary neuropathy with liability to pressure palsies (HNPP). We recently found a new case from this family and were able to confirm the diagnosis by DNA analysis. PMID:23279343

  9. Electrophysiological comparison between males and females in HNPP.

    PubMed

    Manganelli, Fiore; Pisciotta, Chiara; Dubbioso, Raffaele; Maruotti, Valerio; Iodice, Rosa; Notturno, Francesca; Ruggiero, Lucia; Vitale, Carmine; Nolano, Maria; Uncini, Antonino; Santoro, Lucio

    2013-08-01

    Some evidences highlighted a higher clinical expression of hereditary neuropathy with liability to pressure palsy (HNPP) in males, and a higher load of traumatic nerve injuries due to different occupational activity has been invoked to explain this observation. It is unknown whether this increased clinical impairment corresponds to a greater electrophysiological involvement. Thus, we compared clinical and electrophysiological features between men and women in a large cohort of HNPP patients. Nerve palsies and electrophysiological abnormalities were more frequent in men, and electrophysiological findings which differentiated males from females did not show any age-related worsening. In conclusion, our findings showed a higher clinical and electrophysiological involvement in males which does not seem related to different cumulative nerve damage over time. We believe that the higher disease expression may increase the chance to detect the disease in males and, thereby, to underestimate the HNPP diagnosis in females. PMID:23207550

  10. Hereditary neuropathy with liability to pressure palsies: case report and discussion.

    PubMed

    Grossman, Marc J; Feinberg, Joseph; DiCarlo, Edward F; Birchansky, Sherri B; Wolfe, Scott W

    2007-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an uncommon diagnosis that should be considered in patients with multiple compressive neuropathies. We present the case of a woman who presented with bilateral hand numbness and weakness. Electrodiagnostic testing revealed bilateral carpal tunnel syndrome, bilateral ulnar neuropathy at the elbow, left peroneal neuropathy at the fibular head, and a primarily demyelinating generalized sensorimotor neuropathy. Subsequent genetic testing identified a deletion at chromosome 17p11.2 to confirm the diagnosis of HNPP. Treatment of this largely self-limiting disease is controversial, and this patient suffered minimal disability with treatment including splinting and surgical releases. PMID:18751796

  11. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

    PubMed

    Chance, Phillip F

    2006-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often

  12. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.

    PubMed

    Yurrebaso, Izaskun; Casado, Oscar L; Barcena, Joseba; Perez de Nanclares, Guiomar; Aguirre, Urko

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder mainly caused by a 1.5-Mb deletion at 17p11.2-12 (and in some rare cases by point mutations) and clinically associated with recurrent painless palsies. Here, we performed electrophysiological (motor, sensory and terminal latency index), MRI and genetic studies in a family referred for ulnar neuropathy with pain. Surprisingly, we found typical neurophysiological features of HNPP (prolongation of distal motor latencies and diffuse SNCV slowing with significant slowing of motor nerve conduction velocities). Besides, the proband presented conduction block in left ulnar, left median and both peroneal nerves. MRI findings were consistent with an underlying neuropathy. Molecular studies identified a novel frameshift mutation in PMP22 confirming the diagnosis of HNPP. Our data suggest that neurophysiological studies are essential to characterize underdiagnosed HNPP patients referred for peripheral neuropathy. Our experience shows that MRI could be a complementary tool for the diagnosis of these patients. PMID:24239057

  13. Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

    PubMed Central

    Cho, Sun-Mi; Kim, Yoonjung; Lee, Sang Guk; Yang, Jin-Young

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis. PMID:25506001

  14. Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies.

    PubMed

    Cho, Sun-Mi; Hong, Bo Young; Kim, Yoonjung; Lee, Sang Guk; Yang, Jin-Young; Kim, Juwon; Lee, Kyung-A

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis. PMID:25506001

  15. Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.

    PubMed

    Topakian, Raffi; Wimmer, Sibylle; Pischinger, Barbara; Pichler, Robert

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing. PMID:25326571

  16. Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child.

    PubMed

    Sobreira, Inês; Sousa, Cátia; Raposo, Ana; Soares, M Rita; Soudo, Ana; Dias, Ana Isabel

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis. PMID:22953141

  17. Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

    PubMed Central

    Sobreira, Inês; Sousa, Cátia; Raposo, Ana; Soares, M. Rita; Soudo, Ana; Dias, Ana Isabel

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis. PMID:22953141

  18. Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis.

    PubMed

    Gencik, Martin; Finsterer, Josef

    2015-01-01

    Objectives. Although hereditary neuropathy with liability to pressure palsies (HNPP) presents with a distinct phenotype on history, clinical exam, and nerve conduction studies, it may be masked if diagnostic work-up suggests other causes. Case Report. In a 37-year-old male with pseudoradicular lumbar pain, neurological exam revealed sore neck muscles, peripheral facial nerve palsy, right anacusis and left hypoacusis, hemihypesthesia of the right face, mild distal quadriparesis, diffuse wasting, and generally reduced tendon reflexes. He had a history of skull fracture due to a gunshot behind the right ear and tuberculosis for which he had received adequate treatment for 3 years; MRI revealed a disc prolapse at C6/7 and Th11/12. Nerve conduction studies were indicative of demyelinating polyneuropathy with conduction blocks. Despite elevated antinuclear antibodies and elevated CSF-protein, HNPP was diagnosed genetically after having excluded vasculitis, CIDP, radiculopathy, and the side effects of antituberculous treatment. Conclusions. HNPP may manifest with mild, painless, distal quadriparesis. The diagnosis of HNPP may be blurred by a history of tuberculosis, tuberculostatic treatment, hepatitis, and the presence of elevated CSF-protein. PMID:26640726

  19. Hereditary Neuropathy with Liability to Pressure Palsies Masked by Previous Gunshots and Tuberculosis

    PubMed Central

    Gencik, Martin; Finsterer, Josef

    2015-01-01

    Objectives. Although hereditary neuropathy with liability to pressure palsies (HNPP) presents with a distinct phenotype on history, clinical exam, and nerve conduction studies, it may be masked if diagnostic work-up suggests other causes. Case Report. In a 37-year-old male with pseudoradicular lumbar pain, neurological exam revealed sore neck muscles, peripheral facial nerve palsy, right anacusis and left hypoacusis, hemihypesthesia of the right face, mild distal quadriparesis, diffuse wasting, and generally reduced tendon reflexes. He had a history of skull fracture due to a gunshot behind the right ear and tuberculosis for which he had received adequate treatment for 3 years; MRI revealed a disc prolapse at C6/7 and Th11/12. Nerve conduction studies were indicative of demyelinating polyneuropathy with conduction blocks. Despite elevated antinuclear antibodies and elevated CSF-protein, HNPP was diagnosed genetically after having excluded vasculitis, CIDP, radiculopathy, and the side effects of antituberculous treatment. Conclusions. HNPP may manifest with mild, painless, distal quadriparesis. The diagnosis of HNPP may be blurred by a history of tuberculosis, tuberculostatic treatment, hepatitis, and the presence of elevated CSF-protein. PMID:26640726

  20. Hereditary neuropathy with liability to pressure palsy combined with schwannomas of the median and medial plantar nerves.

    PubMed

    Heckmann, Josef G; Dütsch, Matthias; Buslei, Ralf

    2007-01-01

    A 42-year-old woman was surgically treated for carpal tunnel syndrome, revealing schwannoma of the median nerve. A year later, she developed a tarsal tunnel syndrome. At time of this diagnosis, hereditary neuropathy with liability to pressure palsies (HNPP) was diagnosed genetically and a schwannoma of the medial plantar nerve was treated surgically. The occurrence of HNPP and schwannomas in the same patient might be purely coincidental, but it is tempting to speculate that they share a common genetic basis. PMID:16969831

  1. New mutations in CMT 1 and HNPP

    SciTech Connect

    Vandenberghe, A.; Boucherat, M.; Bonnebouche, C.

    1994-09-01

    The majority of mutations in CMT 1 (Charcot-Marie-Tooth disease type 1) are due to a duplication of a 1.5 Mb fragment from chromosome 17 containing the PMP22 myelin gene. In addition, micromutations are found in the genes for PMP22 and myelin Po. We collected data from over one hundred families with a duplication in 17p11.2. In about 10% of these families, a de novo mutation was observed. All parents were clinically examined as normal and correct paternity was confirmed. Some families were informative for polymorphic probes located in the duplicated region, and we could deduce a majority of new mutations to be from paternal origin. HNPP (hereditary neuropathy with liability to pressure palsies) is believed to be the reciprocal product of an unequal crossing over underlying the CMT 1 mutation and is due to a deletion of the 1.5 Mb fragment. One new HNPP mutation was found among 7 deleted HNPP families. This mutation is of paternal origin. Clinically assigned CMT 1 patients without a duplication are screened for micromutations applying the SSCP technique. In one family, a de novo mutation was found in the gene for Po.

  2. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

    PubMed

    Chrestian, Nicolas; McMillan, Hugh; Poulin, Chantal; Campbell, Craig; Vajsar, Jiri

    2015-09-01

    Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is a rare condition in childhood with a diverse range of clinical presentations. We analyzed the clinical presentation and electrophysiological data of 12 children with a confirmed PMP22 gene deletion and reviewed the published reports of HNPP in children and compared our data with the reports from the literature review. Peroneal palsy was the most common presentation (42%) followed by brachial plexus palsy in 25% of our cases. Nerve conduction studies were always suggestive of the diagnosis demonstrating 3 major patterns: multifocal demyelination at the area of entrapment, generalized sensory-motor polyneuropathy and a combination of the two first patterns in a vast majority (60%). Surprisingly, there was bilateral or unilateral electrophysiological entrapment of the median nerve at the carpal tunnel in all our patients. The clinical presentation of HNPP in childhood is heterogeneous and electrophysiological findings are helpful in establishing the diagnosis. Any unexplained mononeuropathy or multifocal neuropathy should lead to PMP22 gene testing to look for the deletion. Early diagnosis is important in order to facilitate appropriate genetic counseling and also for the appropriate care for these patients. PMID:26189194

  3. Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies.

    PubMed

    Ginanneschi, Federica; Filippou, Georgios; Giannini, Fabio; Carluccio, Maria A; Adinolfi, Antonella; Frediani, Bruno; Dotti, Maria T; Rossi, Alessandro

    2012-12-01

    In hereditary neuropathy with liability to pressure palsies (HNPP), the increase in distal motor latencies (DMLs) is often out of proportion to the slowing of conduction velocities, but the pathophysiological mechanism is still unclear. We used a combined electrophysiological and ultrasonographic (US) approach to provide insight into this issue. Twelve HNPP subjects underwent extensive electrophysiological studies and US measurements of the cross-sectional area (CSA) of several peripheral nerves. US nerve enlargement was only observed in the carpal tunnel, Guyon's canal, the elbow and the fibular head. We did not observe US abnormalities at sites where nerve entrapment is uncommon. An increase in DMLs was observed regardless of US nerve enlargement. The increased nerve CSA only in common sites of entrapment likely reflected the well-documented nerve vulnerability to mechanical stress in HNPP. No morphometric changes were seen in the distal nerve segments where compression/entrapment is unlikely, despite the fact that the DMLs were increased. These data suggest that factors other than mechanical stress are responsible for the distal slowing of action potential propagation. We speculate that a mixture of mechanical insults and an axon-initiated process in the distal nerves underlies the distal slowing and/or conduction failure in HNPP. PMID:23279340

  4. Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging.

    PubMed

    Park, Donghwi; Ryu, Ju Seok; Kim, Ki-Jeong

    2016-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by acute, painless, and recurrent mononeuropathies that are secondary to compression or minor trauma. This case is the first to report an intraspinal compression of the radicular nerve by schwannoma in a patient with HNPP. A 66-year-old woman developed left foot drop and paresthesia of the lateral aspects of left distal lower leg. An electromyography showed left L5 radiculopathy and severe peripheral polyneuropathy. A lumbosacral magnetic resonance imaging revealed a radicular nerve in the intradural and extramedullary space being compressed by schwannoma. She previously had symptoms of foot drop several years ago, and HNPP was confirmed by peripheral myelin protein 22 deletion. She was surgically treated for L5 radiculopathy, which might have been caused by a traction of the nerve root by schwannoma at the intradural and extramedullary space. After surgical treatment, her symptoms of foot drop had improved from zero grade to IV+ grade within 4 weeks. The occurrence of HNPP and schwannoma in the same patient may be coincidental, but it is tempting to speculate that they share a common genetic basis. Therefore, for patients with HNPP, it is important to consider not only an electrophysiologic study but also a magnetic resonance imaging to locate the exact pathologic site. PMID:27149588

  5. Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis.

    PubMed

    Bhatt, Archit; Farooq, Muhammad U; Aburashed, Rany; Kassab, Mounzer Y; Majid, Arshad; Bhatt, Shaila; Naravetla, Bharath; Dhaliwal, Gurmail

    2009-06-01

    A 56-year-old male with recurrent painless focal neuropathies and a family history of peripheral neuropathy of unknown etiology presented with progressively worsening of impaired sensations and weakness in his lower extremities. His initial electrodiagnostic evaluation was suggestive of severe sensory and motor peripheral polyneuropathy. The genetic testing was performed for familial causes of peripheral neuropathy as there was a family history of peripheral neuropathy of unknown etiology. The patient was found to have 1.5-Mb deletion in the PMP22 gene which was confirmatory of hereditary neuropathy with liability to pressure palsies (HNPP). He developed progressive upper and lower extremity weakness, bulbar dysfunction and widespread fasciculations during the course of his illness. He was subsequently diagnosed with amyotrophic lateral sclerosis (ALS). This is the second reported case of HNPP associated with ALS. We discuss significant clinical and electrodiagnostic findings of this interesting case. PMID:19238316

  6. The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

    PubMed

    Sinkiewicz-Darol, Elena; Lacerda, Andressa Ferreira; Kostera-Pruszczyk, Anna; Potulska-Chromik, Anna; Sokołowska, Beata; Kabzińska, Dagmara; Brunetti, Craig R; Hausmanowa-Petrusewicz, Irena; Kochański, Andrzej

    2015-01-01

    Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders. Molecular diagnostics of CMT1A/HNPP diseases confirm clinical diagnosis, but their value is limited to the clinical course and prognosis. However, no biomarkers of CMT1A/HNPP have been identified. We decided to explore if the LITAF/SIMPLE gene shared a functional link to the PMP22 gene, whose duplication or deletion results in CMT1A and HNPP, respectively. By studying a large cohort of CMT1A/HNPP-affected patients, we found that the LITAF I92V sequence variant predisposes patients to an earlier age of onset of both the CMT1A and HNPP diseases. Using cell transfection experiments, we showed that the LITAF I92V sequence variant partially mislocalizes to the mitochondria in contrast to wild-type LITAF which localizes to the late endosome/lysosomes and is associated with a tendency for PMP22 to accumulate in the cells. Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders. PMID:25342198

  7. A 1.5 Mb submicroscopic deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

    SciTech Connect

    Lorenzetti, D.; Roa, B.B.; Abbas, N.E.

    1994-09-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies that was recently associated with a 1.5 Mb deletion in chromosome 17p11.2-p12. Duplication of the same region is known to be associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a more severe peripheral neuropathy characterized by symmetrically slowed nerve conduction velocity. The CMT1A duplication and HNPP deletion are reciprocal recombination products involving a repeat element (CMT1A-REP) which flanks the 1.5 Mb region involved in the duplication/deletion. Patients from 9 unrelated HNPP Italian families were clinically, electrophysiologically and histologically evaluated. Families were typed with a polymorphic (CA){sub n} repeat and with RFLPs corresponding to loci D17S122, D17S125 and D17S61, which all map within the deleted region. Lack of allelic transmission from affected parent to affected offspring was observed in four informative families, suggesting the presence of deletion. Southern blot analysis of EcoRI digested genomic DNA from HNPP patients and control subjects was performed using a probe mapping within the CMT1A-REP elements. A reduced hybridization signal of a 6.0 kb EcoRI fragment, mapping within the distal CMT1A-REP, was observed in all HNPP patients suggesting the loss of one copy of this fragment in the HNPP-deleted chromosome. PFGE analysis of SacII digested genomic DNA from selected HNPP subjects showed the presence of a junction fragment which has previously been found in association with the 1.5 Mb HNPP deletion. Evidence for deletion could be demonstrated in all 9 families suggesting that the 17p11.2-p12 deletion is commonly associated with HNPP.

  8. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies

    SciTech Connect

    Lorenzetti, D.; Pandolfo, M. |; Pareyson, D.; Sghirlanzoni, A.; Di Donato, S.; Roa, B.B.; Abbas, N.E.; Lupski, J.R.

    1995-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies. A 1.5-Mb deletion in chromosome 17p11.2-p12 has been associated with HNPP. Duplication of the same 1.5-Mb region is known to be associated with Charcot-Marie-Tooth disease type 1 (CMT1A), a more severe peripheral neuropathy characterized by symmetrically slowed nerve conduction velocity (NCV). The CMT1A duplication and HNPP deletion appear to be the reciprocal products of a recombination event involving a repeat element (CMT1A-REP) that flanks the 1.5-Mb region involved in the duplication/deletion. Patients from nine unrelated Italian families who were diagnosed with HNPP on the basis of clinical, electrophysiological, and histological evaluations were analyzed by molecular methods for DNA deletion on chromosome 17p. In all nine families, Southern analysis using a CMT1A-REP probe detected a reduced hybridization signal of a 6.0-kb EcoRI fragment mapping within the distal CMT1A-REP, indicating deletion of one copy of CMT1A-REP in these HNPP patients. Families were also typed with a polymorphic (CA){sub n} repeat and with RFLPs corresponding to loci D17S122, D17S125, and D17S61, which all map within the deleted region. Lack of allelic transmission from affected parent to affected offspring was observed in four informative families, providing an independent indication for deletion. Furthermore, pulsed-field gel electrophoresis analysis of SacII-digested genomic DNA detected junction fragments specific to the 1.5-Mb HNPP deletion in seven of nine Italian families included in this study. These findings suggest that a 1.5-Mb deletion on 17p11.2-p12 is the most common mutation associated with HNPP. 51 refs., 5 figs., 1 tab.

  9. Visual and somatosensory evoked potentials and F-wave latency measurements in hereditary neuropathy with liability to pressure palsies.

    PubMed

    Strenge, H; Soyka, D; Tackmann, W

    1982-01-01

    Pattern shift visual evoked potentials (VEPs), cervical and cortical somatosensory evoked responses (SEPs) and motor conduction velocities studied by F-wave latency measurements were investigated in two family members with hereditary neuropathy with liability to pressure palsies (HN-PP). In both cases in VEPs and SEP conduction times N13-N20 were normal. A bilateral pathological increase of latencies of early SEP components, N9-N13 transit times and F-wave latencies revealed a lesion in the proximal parts of the median nerves close to the spinal cord in the older patient. These abnormalities emphasize the close relationship of HN-PP with hereditary polyradiculopathy (Mayer 1975). PMID:6174708

  10. Genetics Home Reference: hereditary neuropathy with liability to pressure palsies

    MedlinePlus

    ... hereditary neuropathy with liability to pressure palsies hereditary neuropathy with liability to pressure palsies Enable Javascript to ... Download PDF Open All Close All Description Hereditary neuropathy with liability to pressure palsies is a disorder ...

  11. Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.

    PubMed

    Rana, Abdul Qayyum; Masroor, Mohamed Sufian

    2012-03-01

    Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) is an autosomal dominant disorder and is usually characterized by episodes of recurrent and painless focal motor and sensory peripheral mononeuropathy. This condition is usually localized around areas of entrapment (predominantly the wrists, knees, elbows, and shoulders). The genetic locus of the disease is chromosome 17p12. A deletion of the PMP22 gene results in the lack of peripheral myelin protein, a key component to the myelin sheet of peripheral nerves. However, this disease may be completely asymptomatic until an event, such as a minor trauma, triggers these episodes, as seen in our presented case report. The diagnosis of HNPP can be somewhat challenging, as other diseases, such as Charcot-Marie-Tooth disease type 1A (CMT) and Hereditary Neuralgic Amyotrophy (HNA) must be included in the differential diagnosis due to their overlapping clinical features. There are currently no treatments to cure the disease, but therapies seek to alleviate the symptoms and recurring episodes. PMID:22023293

  12. Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.

    PubMed

    Vill, Katharina; Kuhn, Marius; Gläser, Dieter; Müller-Felber, Wolfgang

    2015-02-01

    We report monozygotic twins, who presented with a clinical picture of Charcot-Marie-Tooth disease type 1 (CMT1) with bilateral foot drop, pes cavus, thoracic kyphosis, and scoliosis. Hereditary neuropathy with liability to pressure palsies (HNPP) showed up in one of them. Neurography showed demyelinating neuropathy, typical for CMT1, and transient conduction block in the ulnar nerve correlating with clinical ulnar palsy due to minor mechanical stress in only one of them. Genetic analysis revealed novel small de novo deletion c.407_418del12 in the PMP22 gene. Our patient shows the rarely reported combination of CMT1A and HNPP, caused by an in-frame deletion in the PMP22 gene. HNPP is in the majority of cases correlated with heterozygous deletion of the whole PMP22 gene or other mutations leading to functional haploinsufficiency. The cases give further evidence that pathogenesis of HNPP is not completely understood and can obviously result from existence of a defective protein, too. The intrafamiliar phenotypic variability, even in monozygotic twins, confirms the well-known fact that factors apart from genetics contribute to the clinical course. PMID:25265422

  13. Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion.

    PubMed

    Oliveira, Aline Pinheiro Martins de; Pereira, Raquel Campos; Onofre, Patrícia Toscano; Marques, Vanessa Daccach; Andrade, Gilberto Brown de; Barreira, Amilton Antunes; Marques Junior, Wilson

    2016-02-01

    The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS. PMID:26982985

  14. Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP.

    PubMed

    Hu, Bo; Arpag, Sezgi; Zhang, Xuebao; Möbius, Wiebke; Werner, Hauke; Sosinsky, Gina; Ellisman, Mark; Zhang, Yang; Hamilton, Audra; Chernoff, Jonathan; Li, Jun

    2016-09-01

    Schwann cells in the peripheral nervous systems extend their membranes to wrap axons concentrically and form the insulating sheath, called myelin. The spaces between layers of myelin are sealed by myelin junctions. This tight insulation enables rapid conduction of electric impulses (action potentials) through axons. Demyelination (stripping off the insulating sheath) has been widely regarded as one of the most important mechanisms altering the action potential propagation in many neurological diseases. However, the effective nerve conduction is also thought to require a proper myelin seal through myelin junctions such as tight junctions and adherens junctions. In the present study, we have demonstrated the disruption of myelin junctions in a mouse model (Pmp22+/-) of hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of Pmp22 gene. We observed a robust increase of F-actin in Pmp22+/- nerve regions where myelin junctions were disrupted, leading to increased myelin permeability. These abnormalities were present long before segmental demyelination at the late phase of Pmp22+/- mice. Moreover, the increase of F-actin levels correlated with an enhanced activity of p21-activated kinase (PAK1), a molecule known to regulate actin polymerization. Pharmacological inhibition of PAK normalized levels of F-actin, and completely prevented the progression of the myelin junction disruption and nerve conduction failure in Pmp22+/- mice. Our findings explain how abnormal myelin permeability is caused in HNPP, leading to impaired action potential propagation in the absence of demyelination. We call it "functional demyelination", a novel mechanism upstream to the actual stripping of myelin that is relevant to many demyelinating diseases. This observation also provides a potential therapeutic approach for HNPP. PMID:27583434

  15. Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies.

    PubMed

    Canali, Elena; Chiari, Annalisa; Sola, Patrizia; Fioravanti, Valentina; Valzania, Franco; Pentore, Roberta; Nichelli, Paolo; Mandrioli, Jessica

    2010-05-01

    We describe the rare case of a young woman with hereditary neuropathy with liability to compression palsy (HNPP), who developed a rapidly progressive ALS. We suggest that underexpression of PMP22 protein in the nervous system might interfere with motor neuron function by impairing myelin formation and exposure of the axon to injury. Patients with ALS and evidence of demyelination should be screened for HNPP. PMID:19437170

  16. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

    PubMed Central

    2014-01-01

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal. PMID:24646194

  17. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

    PubMed

    van Paassen, Barbara W; van der Kooi, Anneke J; van Spaendonck-Zwarts, Karin Y; Verhamme, Camiel; Baas, Frank; de Visser, Marianne

    2014-01-01

    PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal. PMID:24646194

  18. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

    PubMed

    Resko, Peter; Radvansky, Jan; Odnogova, Zuzana; Baldovic, Marian; Minarik, Gabriel; Polakova, Helena; Palffy, Roland; Kadasi, Ludevit

    2011-12-01

    Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group of disorders are CMT type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP). CMT1A and HNPP are predominantly caused by a 1.5 Mb duplication and deletion in the chromosomal region 17p11.2, respectively, and less frequently by other mutations in the peripheral myelin protein 22 (PMP22) gene. Despite being relatively common diseases, they haven't been previously studied in the Slovak population. Therefore, the aim of this study was to identify the spectrum and frequency of PMP22 mutations in the Slovak population by screening 119 families with CMT and 2 families with HNPP for causative mutations in this gene. The copy number determination of PMP22 resulted in the detection of CMT1A duplication in 40 families and the detection of HNPP deletion in 7 families, 6 of which were originally diagnosed as CMT. Consequent mutation screening of families without duplication or deletion using dHPLC and sequencing identified 6 single base changes (3 unpublished to date), from which only c.327C>A (Cys109X) present in one family was provably causative. These results confirm the leading role of PMP22 mutation analysis in the differential diagnosis of CMT and show that the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population. PMID:22131320

  19. Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy

    PubMed Central

    Wedderburn, Sarah; Pateria, Puraskar; Panegyres, Peter K.

    2014-01-01

    It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painless flail upper limb with a clinical diagnosis of a brachial plexopathy after his partner slept on his arm – a PMP22 deletion was found. His father, who had a symmetrical polyneuropathy without recurrent mononeuropathies, shared the PMP22 deletion. PMID:25685136

  20. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

    SciTech Connect

    Shaffer, L.G.; Kennedy, G.M.; Spikes, A.S.

    1997-03-31

    Charcot-Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb region in 17p12 containing the PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with liability to pressure palsies (HNPP). The most informative current diagnostic testing requires pulsed-field gel electrophoresis to detect DNA rearrangement-specific junction fragments. We investigated the use of interphase FISH for the detection of duplications and deletions for these disorders in the clinical molecular cytogenetics laboratory. Established cell lines or blood specimens from 23 individuals with known molecular diagnoses and 10 controls were obtained and scored using a two-color FISH assay. At least 70%, of CMT1A cells displayed three signals consistent with duplications. Using this minimum expected percentile to make a CMT1A duplication diagnosis, all patients with CMT1A showed a range of 71-92% of cells displaying at least three signals. Of the HNPP cases, 88% of cells displayed only one hybridization signal, consistent with deletions. The PMP22 locus from normal control individuals displayed a duplication pattern in {approximately}9% of cells, interpreted as replication of this locus. The percentage of cells showing replication was significantly lower than in those cells displaying true duplications. We conclude that FISH can be reliably used to diagnose CMT1A and HNPP in the clinical cytogenetics laboratory and to readily distinguish the DNA rearrangements associated with these disorders from individuals without duplication or deletion of the PMP22 locus. 43 refs., 4 figs., 2 tabs.

  1. Recombination hot spot in 3.2-kb region of the Charcot-Marie Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A

    SciTech Connect

    Lopes, J.; LeGuern, E.; Gouider, R.; Tardieu, S.; Abbas, N.

    1996-06-01

    Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant neuropathies, associated, respectively, with duplications and deletions of the same 1.5-Mb region on 17p11.2-p12. These two rearrangements are the reciprocal products of an unequal meiotic crossover between the two chromosome 17 homologues, caused by the misalignment of the CMT1A repeat sequences (CMT1A-REPs), the homologous sequences flanking the 1.5-Mb CMT1A/HNPP monomer unit. In order to map recombination breakpoints within the CMT1A-REPs, a 12.9-kb restriction map was constructed from cloned EcoRI fragments of the proximal and distal CMT1A-REPs. Only 3 of the 17 tested restriction sites were present in the proximal CMT1A-REP but absent in the distal CMT1A-REP, indicating a high degree of homology between these sequences. The rearrangements were mapped in four regions of the CMT1A-REPs by analysis of 76 CMT1A index cases and 38 HNPP patients, who were unrelated. A hot spot of crossover breakpoints located in a 3.2-kb region accounted for three-quarters of the rearrangements, detected after EcoRI/SacI digestion, by the presence of 3.2-kb and 7.8-kb junction fragments in CMT1A and HNPP patients, respectively. These junction fragments, which can be detected on classical Southern blots, permit molecular diagnosis. Other rearrangements can also be detected by gene dosage on the same Southern blots. 25 refs., 4 figs., 2 tabs.

  2. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12

    SciTech Connect

    Murakami, Tatsufumi; Lupski, J.R.

    1996-05-15

    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem duplication in chromosome 17p11.2-p12, and hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. Both diseases appear to result from an altered copy number of the peripheral myelin protein-22 gene, PMP22, which maps within the critical region. To identify additional genes and characterize chromosomal elements, a 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region was assembled using a yeast artificial chromosome (YAC)-based isolation and binning strategy. Whole YAC probes were used for screening a high-density arrayed chromosome 17-specific cosmid library. Selected cosmids were spotted on dot blots and assigned to bins defined by YACs. This binning of cosmids facilitated the subsequent fingerprint analysis. The 1.5-Mb region was covered by 137 cosmids with a minimum overlap set of 52 cosmids assigned to 17 bins and 9 contigs. 20 refs., 2 figs.

  3. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

    PubMed

    Zhang, Feng; Seeman, Pavel; Liu, Pengfei; Weterman, Marian A J; Gonzaga-Jauregui, Claudia; Towne, Charles F; Batish, Sat Dev; De Vriendt, Els; De Jonghe, Peter; Rautenstrauss, Bernd; Krause, Klaus-Henning; Khajavi, Mehrdad; Posadka, Jan; Vandenberghe, Antoon; Palau, Francesc; Van Maldergem, Lionel; Baas, Frank; Timmerman, Vincent; Lupski, James R

    2010-06-11

    Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed that >99% of these rearrangements are recurrent and mediated by nonallelic homologous recombination (NAHR). Rare copy number variations (CNVs) generated by nonrecurrent rearrangements also exist in 17p12, but their underlying mechanisms are not well understood. We investigated 21 subjects with rare CNVs associated with CMT1A or HNPP by oligonucleotide-based comparative genomic hybridization microarrays and breakpoint sequence analyses, and we identified 17 unique CNVs, including two genomic deletions, ten genomic duplications, two complex rearrangements, and three small exonic deletions. Each of these CNVs includes either the entire PMP22 gene, or exon(s) only, or ultraconserved potential regulatory sequences upstream of PMP22, further supporting the contention that PMP22 is the critical gene mediating the neuropathy phenotypes associated with 17p12 rearrangements. Breakpoint sequence analysis reveals that, different from the predominant NAHR mechanism in recurrent rearrangement, various molecular mechanisms, including nonhomologous end joining, Alu-Alu-mediated recombination, and replication-based mechanisms (e.g., FoSTeS and/or MMBIR), can generate nonrecurrent 17p12 rearrangements associated with neuropathy. We document a multitude of ways in which gene function can be altered by CNVs. Given the characteristics, including small size, structural complexity, and location outside of coding regions, of selected rare CNVs, their identification remains a challenge for genome analysis. Rare CNVs may potentially represent an important portion of "missing heritability" for human diseases. PMID:20493460

  4. Bell's Palsy

    MedlinePlus

    ... Stories Español Eye Health / Eye Health A-Z Bell's Palsy Sections What Is Bell's Palsy? Bell's Palsy Symptoms ... Bell's Palsy Diagnosis Bell's Palsy Treatment What Is Bell's Palsy? Reviewed by: Philip R Rizzuto, MD FACS Mar. ...

  5. Abnormal sitting pressures of hemiplegic cerebral palsy children on a school chair

    PubMed Central

    Lee, In-Hee; Park, Sang-young

    2015-01-01

    [Purpose] The purpose of this study was to investigate the differences in symmetry of sitting posture between typical developmental (TD) children and hemi-cerebral palsy (CP) children. [Subjects and Methods] A school chair mounted on a force platform was used to assess the quiet-sitting pressure distribution of 10 TD and 10 CP children. [Results] The symmetry index of the TD children was significantly closer to zero than that of the CP children irrespective of the latter group’s hemiparetic side. [Conclusions] Sitting posture on school chairs of CP children was more asymmetrical than that of TD children. PMID:25729201

  6. Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report

    PubMed Central

    Flor-de-Lima, Filipa; Taipa, Ricardo; Melo-Pires, Manuel; Rodrigues, Maria Lurdes

    2013-01-01

    Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, “sausage-like” swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis. PMID:24251057

  7. Cerebral Palsy

    MedlinePlus

    ... How Can I Help a Friend Who Cuts? Cerebral Palsy KidsHealth > For Teens > Cerebral Palsy Print A A ... do just what everyone else does. What Is Cerebral Palsy? Cerebral palsy (CP) is a disorder of the ...

  8. Bell's Palsy

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Bell's Palsy KidsHealth > For Kids > Bell's Palsy Print A A ... usually goes away on its own. What Is Bell's Palsy? Bell's palsy weakens or paralyzes the muscles on ...

  9. Bell's Palsy Treatment

    MedlinePlus

    ... Stories Español Eye Health / Eye Health A-Z Bell's Palsy Sections What Is Bell's Palsy? Bell's Palsy Symptoms ... Bell's Palsy? Bell's Palsy Diagnosis Bell's Palsy Treatment Bell's Palsy Treatment Reviewed by: Philip R Rizzuto, MD FACS ...

  10. Bell's Palsy Diagnosis

    MedlinePlus

    ... Stories Español Eye Health / Eye Health A-Z Bell's Palsy Sections What Is Bell's Palsy? Bell's Palsy Symptoms ... Bell's Palsy? Bell's Palsy Diagnosis Bell's Palsy Treatment Bell's Palsy Diagnosis Reviewed by: Philip R Rizzuto, MD FACS ...

  11. Bell's Palsy Symptoms

    MedlinePlus

    ... Stories Español Eye Health / Eye Health A-Z Bell's Palsy Sections What Is Bell's Palsy? Bell's Palsy Symptoms ... Bell's Palsy? Bell's Palsy Diagnosis Bell's Palsy Treatment Bell's Palsy Symptoms Reviewed by: Philip R Rizzuto, MD FACS ...

  12. Changes of Plantar Pressure and Gait Parameters in Children with Mild Cerebral Palsy Who Used a Customized External Strap Orthosis: A Crossover Study

    PubMed Central

    Chang, Wen-Dien; Chang, Nai-Jen; Lin, Hung-Yu; Lai, Ping-Tung

    2015-01-01

    Toe-in gait and crouch gait can make children with mild cerebral palsy fall and suffer improper balance during walking or ambulation training. A customized external strap orthosis for correcting leg alignment was used to resolve this problem. The purpose of this study was to research the immediate effects while wearing the customized external strap orthosis. Pressure platform was used to assess the plantar pressure through static and dynamic assessments and to record the changes in path of pressure trajectory. Motion image analysis system was used to record the gait parameters, which included gait speed, stride length, and cadence. The influence of both wearing and removing the orthosis on the dominant leg of children with mild cerebral palsy was analyzed. Nine children with mild cerebral palsy, who all had a dominant right leg, were recruited. After wearing the orthosis, all gait parameters improved, and foot motion changed in the stance phase of the gait cycle. The path of pressure trajectory closing to the midline was also observed during dynamic assessment. Changes in plantar pressure and path of pressure trajectory were observed and the orthosis device could provide immediate assistance to correct the leg alignment and improve the gait performance in children with mild cerebral palsy. PMID:26640796

  13. Transgenic mouse models of CMT1A and HNPP.

    PubMed

    Suter, U; Nave, K A

    1999-09-14

    We have generated several PMP22 animal mutants with altered PMP22 gene dosage. A moderate increase in the number of PMP22 genes led to hypomyelination comparable to CMT1A, whereas high copy numbers of transgenic PMP22 resulted in phenotypes resembling more severe forms of hereditary motor and sensory neuropathies. In contrast, eliminating one of the two normal PMP22 genes by gene targeting caused unstable focal hypermyelination (tomacula) similar to the pathology in HNPP. A related but more severe phenotype was observed in mice that lack PMP22 completely. Detailed analysis of the different PMP22 mutants revealed, in addition to the obvious myelinopathy, distal axonopathy as a characteristic feature. We conclude that the maintenance of axons might be a promising target for therapeutic interventions in these demyelinating hereditary neuropathies. Furthermore, our results strongly support the concept that PMP22-related neuropathies (and most likely also other forms of inherited motor and sensory neuropathies) should be viewed as the consequence of impaired neuron-Schwann cell interactions that are likely already to be operative during development. Such considerations should be taken into account in the design of potential novel treatment strategies. PMID:10586249

  14. Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

    PubMed Central

    Li, Xiaobo; Zi, Xiaohong; Li, Lin; Zhan, Yajing; Huang, Shunxiang; Li, Jin; Li, Xuning; Li, Xigui; Hu, Zhengmao; Xia, Kun; Tang, Beisha; Zhang, Ruxu

    2012-01-01

    We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an ‘onion-like’ structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and ‘mouse-nibbled’-like changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced. PMID:25337104

  15. [Psychogenic hand dystonia and hereditary polyneuropathy with liability to pressure palsies. A contribution to etiology of dystonias].

    PubMed

    Strenge, H; Speidel, H; Albert, E; Helbig, B

    1996-01-01

    We report on a case of a female who had developed a fixed flexion contracture of the 4th and 5th fingers of the right hand which was painless and at-rest right in the beginning at the age of 19. By means of neurographical examinations a hereditary neuropathy with liability to pressure palsies was established in her and her mother, which had clinically manifested with symptoms of the ulnar nerve at the affected hand. The dystonic symptoms did not show any progression within ten years follow-up. A remarkable feature of the course was the twice repeated occurrence of short, sudden and complete remissions immediately following invasive diagnostic procedures. The thorough discussion of differential diagnostic aspects and the analysis of the familiar situation and psychodynamics of the patient resulted in the diagnosis of a psychogenic hand dystonia. PMID:8850092

  16. Cerebral Palsy

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Cerebral Palsy KidsHealth > For Kids > Cerebral Palsy Print A A ... the things that kids do every day. What's CP? Some kids with CP use wheelchairs and others ...

  17. Cerebral Palsy

    MedlinePlus

    ... Loss > Birth defects & other health conditions > Cerebral palsy Cerebral palsy E-mail to a friend Please fill in ... movement problems a child has. What is spastic CP? Spastic means tight or stiff muscles, or muscles ...

  18. Bell's palsy

    MedlinePlus

    ... that may cause Bell's palsy include: HIV infection Lyme disease Middle ear infection Sarcoidosis Having diabetes and ... done to look for medical problems such as Lyme disease, which may cause Bell’s palsy. If your ...

  19. Cerebral Palsy

    MedlinePlus

    Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance ... do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have ...

  20. Bell's Palsy

    MedlinePlus

    Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the ... become inflamed. You are most likely to get Bell's palsy if you are pregnant, diabetic or sick with ...

  1. Cerebral palsy

    MedlinePlus

    Cerebral palsy is a group of disorders that can involve brain and nervous system functions, such as movement, ... and thinking. There are several different types of cerebral palsy, including spastic, dyskinetic, ataxic, hypotonic, and mixed.

  2. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.

    PubMed

    Brožková, Dana; Mazanec, Radim; Rychlý, Zdeněk; Haberlová, Jana; Böhm, Jiří; Staněk, Jan; Plevová, Pavlína; Lisoňová, Jana; Sabová, Jana; Sakmaryová, Iva; Seeman, Pavel

    2011-11-01

    We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP. PMID:22006697

  3. Cerebral Palsy

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Cerebral Palsy Information Page Clinical Trials Trial of Erythropoietin Neuroprotection ... en Español Additional resources from MedlinePlus What is Cerebral Palsy? The term cerebral palsy refers to a group ...

  4. A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction.

    PubMed

    Hachisuka, Akiko; Matsushima, Yasuyuki; Hachisuka, Kenji; Saeki, Satoru

    2016-06-01

    Hereditary neuropathy with liability to pressure palsies is an inherited disease associated with the loss of a copy of the PMP22 gene. The condition leads to mononeuropathy due to compression and easy strangulation during daily life activities, resulting in sudden muscle weakness and sensory disturbance, and displaying symptoms similar to cerebrovascular diseases. We report the case of an 80-year-old man with left paralysis due to chronic cerebral infarction. His medical history indicated remarkable recovery from about 4 months after the onset of left hemiplegia with predominant involvement of the fingers. Despite subsequent recurrent monoplegia of the upper or lower limbs, brain magnetic resonance imaging consistently revealed only previous cerebral infarction in the right corona radiata without new lesions. Medical examination showed reduced deep tendon reflexes in his extremities on both the healthy and hemiplegic sides. Nerve conduction studies showed delayed conduction at the bilateral carpal and cubital tunnels and near the right caput fibulae. Genetic analysis revealed loss of a copy of the PMP22 gene. Thus, he was diagnosed with a cerebral infarction complicated by hereditary neuropathy with liability to pressure palsies. Stroke patients develop sudden muscle weakness and sensory disturbance. However, if such patients have no hyperactive deep tendon reflexes and show atypical recovery of paralysis that does not correspond to findings of imaging modalities, nerve conduction studies and genetic analysis may be necessary, considering the complication of hereditary neuropathy with liability to pressure palsies. PMID:27080157

  5. Cerebral palsy.

    PubMed

    Wimalasundera, Neil; Stevenson, Valerie L

    2016-06-01

    Cerebral palsy has always been known as a disorder of movement and posture resulting from a non-progressive injury to the developing brain; however, more recent definitions allow clinicians to appreciate more than just the movement disorder. Accurate classification of cerebral palsy into distribution, motor type and functional level has advanced research. It also facilitates appropriate targeting of interventions to functional level and more accurate prognosis prediction. The prevalence of cerebral palsy remains fairly static at 2-3 per 1000 live births but there have been some changes in trends for specific causal groups. Interventions for cerebral palsy have historically been medical and physically focused, often with limited evidence to support their efficacy. The use of more appropriate outcome measures encompassing quality of life and participation is helping to deliver treatments which are more meaningful for people with cerebral palsy and their carers. PMID:26837375

  6. Cerebral Palsy (For Parents)

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy Cerebral Palsy KidsHealth > For Parents > Cerebral Palsy Print A A ... kids who are living with the condition. About Cerebral Palsy Cerebral palsy is one of the most common ...

  7. Cerebral palsy - resources

    MedlinePlus

    Resources - cerebral palsy ... The following organizations are good resources for information on cerebral palsy : National Institute of Neurological Disorders and Stroke -- www.ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy. ...

  8. Cerebral palsy.

    PubMed

    Graham, H Kerr; Rosenbaum, Peter; Paneth, Nigel; Dan, Bernard; Lin, Jean-Pierre; Damiano, Diane L; Becher, Jules G; Gaebler-Spira, Deborah; Colver, Allan; Reddihough, Dinah S; Crompton, Kylie E; Lieber, Richard L

    2016-01-01

    Cerebral palsy is the most common cause of childhood-onset, lifelong physical disability in most countries, affecting about 1 in 500 neonates with an estimated prevalence of 17 million people worldwide. Cerebral palsy is not a disease entity in the traditional sense but a clinical description of children who share features of a non-progressive brain injury or lesion acquired during the antenatal, perinatal or early postnatal period. The clinical manifestations of cerebral palsy vary greatly in the type of movement disorder, the degree of functional ability and limitation and the affected parts of the body. There is currently no cure, but progress is being made in both the prevention and the amelioration of the brain injury. For example, administration of magnesium sulfate during premature labour and cooling of high-risk infants can reduce the rate and severity of cerebral palsy. Although the disorder affects individuals throughout their lifetime, most cerebral palsy research efforts and management strategies currently focus on the needs of children. Clinical management of children with cerebral palsy is directed towards maximizing function and participation in activities and minimizing the effects of the factors that can make the condition worse, such as epilepsy, feeding challenges, hip dislocation and scoliosis. These management strategies include enhancing neurological function during early development; managing medical co-morbidities, weakness and hypertonia; using rehabilitation technologies to enhance motor function; and preventing secondary musculoskeletal problems. Meeting the needs of people with cerebral palsy in resource-poor settings is particularly challenging. PMID:27188686

  9. Bell's Palsy.

    PubMed

    Vakharia, Kavita; Vakharia, Kalpesh

    2016-02-01

    Bell's palsy is unilateral, acute onset facial paralysis that is a common condition. One in every 65 people experiences Bell's palsy in the course of their lifetime. The majority of patients afflicted with this idiopathic disorder recover facial function. Initial treatment involves oral corticosteroids, possible antiviral drugs, and protection of the eye from desiccation. A small subset of patients may be left with incomplete recovery, synkinesis, facial contracture, or hemifacial spasm. A combination of medical and surgical treatment options exist to treat the long-term sequelae of Bell's palsy. PMID:26611696

  10. Cerebral Palsy

    MedlinePlus

    ... Español (Spanish) Recommend on Facebook Tweet Share Compartir Cerebral palsy (CP) is a group of disorders that affect a ... ability to move and maintain balance and posture. CP is the most common motor disability in childhood. ...

  11. Bell's Palsy

    MedlinePlus

    ... works and circumstances that lead to nerve damage. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other ...

  12. Bell's Palsy

    MedlinePlus

    ... conditions that cause injuries and damage to nerves. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other ...

  13. Bell's Palsy

    MedlinePlus

    Bell's palsy is the most common cause of facial paralysis. It usually affects just one side of the face. ... from mild to severe and include Twitching Weakness Paralysis Drooping eyelid or corner of mouth Drooling Dry ...

  14. Employees with Cerebral Palsy

    MedlinePlus

    ... Resources Home | Accommodation and Compliance Series: Employees with Cerebral Palsy (CP) By Eddie Whidden, MA Preface Introduction Information About ... SOAR) at http://AskJAN.org/soar. Information about Cerebral Palsy (CP) What is CP? Cerebral palsy is a ...

  15. Botulinum Toxin Type A Injection for Spastic Equinovarus Foot in Children with Spastic Cerebral Palsy: Effects on Gait and Foot Pressure Distribution

    PubMed Central

    Choi, Ja Young; Jung, Soojin; Rha, Dong-wook

    2016-01-01

    Purpose To investigate the effect of intramuscular Botulinum toxin type A (BoNT-A) injection on gait and dynamic foot pressure distribution in children with spastic cerebral palsy (CP) with dynamic equinovarus foot. Materials and Methods Twenty-five legs of 25 children with CP were investigated in this study. BoNT-A was injected into the gastrocnemius (GCM) and tibialis posterior (TP) muscles under the guidance of ultrasonography. The effects of the toxin were clinically assessed using the modified Ashworth scale (MAS) and modified Tardieu scale (MTS), and a computerized gait analysis and dynamic foot pressure measurements using the F-scan system were also performed before injection and at 1 and 4 months after injection. Results Spasticity of the ankle plantar-flexor in both the MAS and MTS was significantly reduced at both 1 and 4 months after injection. On dynamic foot pressure measurements, the center of pressure index and coronal index, which represent the asymmetrical weight-bearing of the medial and lateral columns of the foot, significantly improved at both 1 and 4 months after injection. The dynamic foot pressure index, total contact area, contact length and hind foot contact width all increased at 1 month after injection, suggesting better heel contact. Ankle kinematic data were significantly improved at both 1 and 4 months after injection, and ankle power generation was significantly increased at 4 months after injection compared to baseline data. Conclusion Using a computerized gait analysis and foot scan, this study revealed significant benefits of BoNT-A injection into the GCM and TP muscles for dynamic equinovarus foot in children with spastic CP. PMID:26847306

  16. Charcot-Marie-Tooth Disease

    MedlinePlus

    ... a different neuropathy distinct from CMT1A called hereditary neuropathy with predisposition to pressure palsy (HNPP) is caused ... PMP-22 gene result in episodic, recurrent demyelinating neuropathy. CMT1B is an autosomal dominant disease caused by ...

  17. Comparison of center-of-pressure displacement during sit-to-stand according to chair height in children with cerebral palsy

    PubMed Central

    Lee, Hye-Young; Lee, In-Hee

    2015-01-01

    [Purpose] In patients with cerebral palsy (CP), performance of the sit-to-stand (STS) task is influenced by an asymmetrical motor pattern. The purpose of this study was to analyze the effects of an elevated chair on STS performance in patients with CP. [Subjects and Methods] Nine CP patients performed STS from a height-adjustable instrumented chair at their natural speed, with the ankle at a 90° angle to the floor. The center-of-pressure (COP) displacement was recorded under the feet. Each foot position was tested at two chair heights corresponding to 100% and 120% of the leg length. The extent and speed of COP were calculated. [Results] The anteroposterior speed and extent of COP were greater with the standard chair than with the elevated chair. The other parameters such as mediolateral speed, extent, and vertical speed of the COP were not different between the two chairs. [Conclusion] These findings suggest that the sway with STS performed from the elevated chair was lesser than that with STS performed from the standard chair. This information will be relevant to clinicians involved in the rehabilitation of CP patients and will help identify factors that influence STS performance. PMID:26311970

  18. [Cerebral palsy].

    PubMed

    Malagón Valdez, Jorge

    2007-01-01

    The term cerebral palsy (CP), is used for a great number of clinical neurological syndromes. The syndromes are characterized by having a common cause, motor defects. It is important, because they can cause a brain damage by presenting motor defects and some associated deficiencies, such as mental deficiency, epilepsy, language and visual defects and pseudobulbar paralysis, with the non-evolving fact. Some authors prefer using terms such as "non-evolving encephalopathies". In the treatment the utility of prevention programs of early stimulation and special rehabilitation methods, and treatment of associated deficiencies such as epilepsy, mental deficiency, language, audition and visual problems, and the attention deficit improve the prognosis in an important way. The prognosis depends on the severity of the disease and the associated manifestations. PMID:18422084

  19. United Cerebral Palsy

    MedlinePlus

    ... of UCP blog for the latest updates. United Cerebral Palsy UCP educates, advocates and provides support services to ... Partners Merz Logo Sprint Relay Copyright © 2015 United Cerebral Palsy 1825 K Street NW Suite 600 Washington, DC ...

  20. Progressive supranuclear palsy

    MedlinePlus

    Dementia-nuchal dystonia; Richardson-Steele-Olszewski syndrome; Palsy - progressive supranuclear ... Progressive supranuclear palsy is a condition that causes symptoms similar to those of Parkinson disease . It involves damage to many cells ...

  1. Aging and Cerebral Palsy.

    ERIC Educational Resources Information Center

    Networker, 1993

    1993-01-01

    This special edition of "The Networker" contains several articles focusing on aging and cerebral palsy (CP). "Aging and Cerebral Palsy: Pathways to Successful Aging" (Jenny C. Overeynder) reports on the National Invitational Colloquium on Aging and Cerebral Palsy held in April 1993. "Observations from an Observer" (Kathleen K. Barrett) describes…

  2. Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

    PubMed

    Jo, H-Y; Park, M-H; Woo, H-M; Han, M H; Kim, B-Y; Choi, B-O; Chung, K W; Koo, S K

    2016-08-01

    Large insertions and deletions (indels), including copy number variations (CNVs), are commonly seen in many diseases. Standard approaches for indel detection rely on well-established methods such as qPCR or short tandem repeat (STR) markers. Recently, a number of tools for CNV detection based on next-generation sequencing (NGS) data have also been developed; however, use of these methods is limited. Here, we used whole-exome sequencing (WES) in patients previously diagnosed with CMT1A or HNPP using STR markers to evaluate the ability of WES to improve the clinical diagnosis. Patients were evaluated utilizing three CNV detection tools including CONIFER, ExomeCNV and CEQer, and array comparative genomic hybridization (aCGH). We identified a breakpoint region at 17p11.2-p12 in patients with CMT1A and HNPP. CNV detection levels were similar in both 6 Gb (mean read depth = 80×) and 17 Gb (mean read depth = 190×) data. Taken together, these data suggest that 6 Gb WES data are sufficient to reveal the genetic causes of various diseases and can be used to estimate single mutations, indels, and CNVs simultaneously. Furthermore, our data strongly indicate that CNV detection by NGS is a rapid and cost-effective method for clinical diagnosis of genetically heterogeneous disorders such as CMT neuropathy. PMID:26662885

  3. [Etiology of cerebral palsy].

    PubMed

    Jaisle, F

    1996-01-01

    The "perinatal asphyxia" is regarded to be one of the causes of cerebral palsy, though in the very most of the children with cerebral palsy there is found no hypoxia during labour. It should be mentioned, that the definition of "perinatal" and "asphyxia" neither are unic nor concret. And also there is no correlation between nonreassuring fetal heart rate patterns and acidosis in fetal blood with the incidence of cerebral palsy. Numerous studies in pregnant animals failed in proving an acute intrapartal hypoxia to be the origin of the cerebral palsy. Myers (1975) describes four patterns of anatomic brain damage after different injuries. Only his so called oligo-acidotic hypoxia, which is protracted and lasts over a longer time is leading to brain injury, which can be regarded in analogy to the injury of children with cerebral palsy. Summarising the update publications about the causes of cerebral palsy and the studies in pregnant animals there is no evidence that hypoxia during labour may be the cause of cerebral palsy. There is a great probability of a pre(and post-)natal origin of brain injury (for instance a periventricular leucomalacia found after birth) which leads to cerebral palsy. Short after labour signs of a so called "asphyxia" may occur in addition to this preexisting injury and misrepresent the cause of cerebral palsy. Finally the prepartal injury may cause both: Cerebral palsy and hypoxia. PMID:9035826

  4. Cerebral Palsy (CP) Quiz

    MedlinePlus

    ... Submit Button Past Emails CDC Features Pop Quiz: Cerebral Palsy Language: English Español (Spanish) Recommend on Facebook Tweet ... Sandy is the parent of a child with cerebral palsy and the Board President of Gio’s Garden , a ...

  5. Rehabilitation in cerebral palsy.

    PubMed Central

    Molnar, G. E.

    1991-01-01

    Cerebral palsy is the most frequent physical disability of childhood onset. Over the past four decades, prevalence has remained remarkably constant at 2 to 3 per 1,000 live births in industrialized countries. In this article I concentrate on the rehabilitation and outcome of patients with cerebral palsy. The epidemiologic, pathogenetic, and diagnostic aspects are highlighted briefly as they pertain to the planning and implementation of the rehabilitation process. PMID:1866952

  6. Nanomedicine in cerebral palsy

    PubMed Central

    Balakrishnan, Bindu; Nance, Elizabeth; Johnston, Michael V; Kannan, Rangaramanujam; Kannan, Sujatha

    2013-01-01

    Cerebral palsy is a chronic childhood disorder that can have diverse etiologies. Injury to the developing brain that occurs either in utero or soon after birth can result in the motor, sensory, and cognitive deficits seen in cerebral palsy. Although the etiologies for cerebral palsy are variable, neuroinflammation plays a key role in the pathophysiology of the brain injury irrespective of the etiology. Currently, there is no effective cure for cerebral palsy. Nanomedicine offers a new frontier in the development of therapies for prevention and treatment of brain injury resulting in cerebral palsy. Nanomaterials such as dendrimers provide opportunities for the targeted delivery of multiple drugs that can mitigate several pathways involved in injury and can be delivered specifically to the cells that are responsible for neuroinflammation and injury. These materials also offer the opportunity to deliver agents that would promote repair and regeneration in the brain, resulting not only in attenuation of injury, but also enabling normal growth. In this review, the current advances in nanotechnology for treatment of brain injury are discussed with specific relevance to cerebral palsy. Future directions that would facilitate clinical translation in neonates and children are also addressed. PMID:24204146

  7. Cerebral Palsy Litigation

    PubMed Central

    Sartwelle, Thomas P.

    2015-01-01

    The cardinal driver of cerebral palsy litigation is electronic fetal monitoring, which has continued unabated for 40 years. Electronic fetal monitoring, however, is based on 19th-century childbirth myths, a virtually nonexistent scientific foundation, and has a false positive rate exceeding 99%. It has not affected the incidence of cerebral palsy. Electronic fetal monitoring has, however, increased the cesarian section rate, with the expected increase in mortality and morbidity risks to mothers and babies alike. This article explains why electronic fetal monitoring remains endorsed as efficacious in the worlds’ labor rooms and courtrooms despite being such a feeble medical modality. It also reviews the reasons professional organizations have failed to condemn the use of electronic fetal monitoring in courtrooms. The failures of tort reform, special cerebral palsy courts, and damage limits to stem the escalating litigation are discussed. Finally, the authors propose using a currently available evidence rule—the Daubert doctrine that excludes “junk science” from the courtroom—as the beginning of the end to cerebral palsy litigation and electronic fetal monitoring’s 40-year masquerade as science. PMID:25183322

  8. Therapeutic interventions in cerebral palsy.

    PubMed

    Patel, Dilip R

    2005-11-01

    Various therapeutic interventions have been used in the management of children with cerebral palsy. Traditional physiotherapy and occupational therapy are widely used interventions and have been shown to be of benefit in the treatment of cerebral palsy. Evidence in support of the effectiveness of the neurodevelopmental treatment is equivocal at best. There is evidence to support the use and effectiveness of neuromuscular electrical stimulation in children with cerebral palsy. The effectiveness of many other interventions used in the treatment of cerebral palsy has not been clearly established based on well-controlled trials. These include: sensory integration, body-weight support treadmill training, conductive education, constraint-induced therapy, hyperbaric oxygen therapy, and the Vojta method. This article provides an overview of salient aspects of popular interventions used in the management of children with cerebral palsy. PMID:16391455

  9. Sciatic nerve palsy associated with total hip arthroplasty.

    PubMed

    Dhillon, M S; Nagi, O N

    1992-01-01

    Six cases of clinically evident sciatic or peroneal nerve palsy occurred in a consecutive series of 380 total hip arthroplasties (THA). An additional eight cases of peroneal nerve palsy due to pressure from Thomas splint or tight bandages were seen. Factors apparently causing nerve palsy were significant lateralization and lengthening in four cases and dislocation of the hip in one case. The cases with neuroapraxia of the peroneal nerve were seen from the third to the fifth day of Thomas splint immobilization. EMG studies were conducted in all six group 1 patients; at the end of one year the results were good in two cases, fair in three cases, and poor in one case. The results suggest that limb lengthening should be limited to 4 cm to minimize this complication. It was also seen that patients with peroneal nerve palsy due to local compression do well, though some are bothered by mild residual dysesthesia over the dorsum of the foot. In contrast, patients with sciatic nerve palsy do not have such a good outlook. PMID:1345646

  10. Japanese neuropathy patients with peripheral myelin protein-22 gene aneuploidy

    SciTech Connect

    Lebo, R.V.; Li, L.Y.; Flandermeyer, R.R.

    1994-09-01

    Peripheral myelin protein (PMP-22) gene aneuploidy results in Charcot-Marie-Tooth disease Type 1A (CMT1A) and the Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) in Japanese patients as well as Caucasian Americans. Charcot-Marie-Tooth disease (CMT), the most common genetic neuropathy, results when expression of one of at least seven genes is defective. CMT1A, about half of all CMT mutations, is usually associated with a duplication spanning the peripheral myelin protein-22 gene on distal chromosome band 17p11.2. Autosomal dominant HNPP (hereditary pressure and sensory neuropathy, HPSN) results from a deletion of the CMT1A gene region. Multicolor in situ hybridization with PMP-22 gene region probe characterized HNPP deletion reliably and detected all different size duplications reported previously. In summary, 72% of 28 Japanese CMT1 (HMSNI) patients tested had the CMT1A duplication, while none of the CMT2 (HMSNII) or CMT3 (HMSNIII) patients had a duplication. Three cases of HNPP were identified by deletion of the CMT1A gene region on chromosome 17p. HNPP and CMT1A have been reported to result simultaneously from the same unequal recombination event. The lower frequency of HNPP compared to CMT1A suggests that HNPP patients have a lower reproductive fitness than CMT1A patients. This result, along with a CMT1A duplication found in an Asian Indian family, demonstrates the broad geographic distribution and high frequency of PMP-22 gene aneuploidy.

  11. The Effect of Treatment of Obstructive Sleep Apnea on Quality of Life in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Hsiao, Kai Hsun; Nixon, Gillian M.

    2008-01-01

    Benefits of treatment for obstructive sleep apnea (OSA) in children with cerebral palsy could differ from those in otherwise healthy children. We examined the effects of OSA treatment by comparing a group of children with cerebral palsy treated with adenotonsillectomy or continuous positive airway pressure (CPAP) by nasal mask with controls who…

  12. Cranial nerve palsies in childhood

    PubMed Central

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-01-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the globe in adduction related to the innervation of the lateral rectus by the III nerve causing co-contraction in adduction. Clinical features that may be of concern in adulthood may not be relevant in childhood; whereas the presence of mydriasis in III palsy suggests a compressive aetiology in adults, this is not the case in children. However, the frequency of associated CNS abnormalities in III palsy and the risk of tumour in VI palsy can be indications for early neuroimaging depending on presenting features elicited through a careful history and clinical examination. The latter should include the neighbouring cranial nerves. We discuss the impact of our evolving knowledge of congenital cranial dysinnervation syndromes on this field. PMID:25572578

  13. [Nerve sonography of intraneural ganglia as cause painful peroneal palsies: a case series].

    PubMed

    Schilg, Lenka; Hägele-Link, Stefan; Felbecker, Ansgar; Gers, Bettina; Weber, Johannes; Tettenborn, Barbara; Hundsberger, Thomas

    2014-11-26

    In selected cases acquired peroneal palsy is caused by intraneural ganglia. In contrast to the much more frequent "loco typico" lesion which is caused by external pressure, intraneural ganglia can be treated by microscopic nerve surgery as part of primary treatment strategy. A careful clinical history as well as a profound clinical and electrophysiological examination is required to disclose unusual findings. These are common in non-typical peroneal palsy. In this situation high resolution nerve sonography is a fast and sensitive method to detect intraneural ganglia. We report a case series of three patients with peroneal palsy caused by intraneural ganglia and give a review of the literature. PMID:25446682

  14. Differences in standing balance between patients with diplegic and hemiplegic cerebral palsy

    PubMed Central

    Rojas, Valeska Gatica; Rebolledo, Guillermo Méndez; Muñoz, Eduardo Guzman; Cortés, Natalia Ibarra; Gaete, Caterine Berrios; Delgado, Carlos Manterola

    2013-01-01

    Maintaining standing postural balance is important for walking and handling abilities in patients with cerebral palsy. This study included 23 patients with cerebral palsy (seven with spastic diplegia and 16 with spastic hemiplegia), aged from 7 to 16 years of age. Standing posture balance measurements were performed using an AMTI model OR6-7 force platform with the eyes open and closed. Patients with diplegic cerebral palsy exhibited greater center of pressure displacement areas with the eyes open and greater center of pressure sway in the medial-lateral direction with the eyes open and closed compared with hemiplegic patients. Thus, diplegic patients exhibited weaker postural balance control ability and less standing stability compared with hemiplegic cerebral palsy patients. PMID:25206558

  15. Differences in standing balance between patients with diplegic and hemiplegic cerebral palsy.

    PubMed

    Rojas, Valeska Gatica; Rebolledo, Guillermo Méndez; Muñoz, Eduardo Guzman; Cortés, Natalia Ibarra; Gaete, Caterine Berrios; Delgado, Carlos Manterola

    2013-09-15

    Maintaining standing postural balance is important for walking and handling abilities in patients with cerebral palsy. This study included 23 patients with cerebral palsy (seven with spastic diplegia and 16 with spastic hemiplegia), aged from 7 to 16 years of age. Standing posture balance measurements were performed using an AMTI model OR6-7 force platform with the eyes open and closed. Patients with diplegic cerebral palsy exhibited greater center of pressure displacement areas with the eyes open and greater center of pressure sway in the medial-lateral direction with the eyes open and closed compared with hemiplegic patients. Thus, diplegic patients exhibited weaker postural balance control ability and less standing stability compared with hemiplegic cerebral palsy patients. PMID:25206558

  16. Progressive supranuclear palsy.

    PubMed

    Boeve, Bradley F

    2012-01-01

    Progressive supranuclear palsy (PSP) is a neurodegenerative tauopathy which can manifest clinically in a variety of syndromes. In this review, the classic and most common variant syndrome -PSP-Richardson's syndrome (PSP-RS) -is the focus, with the core clinical features, varying cognitive/motor/neuropsychiatric/sleep manifestations, neuropsychological findings, and typical neuroimaging findings all reviewed. Management strategies are also discussed. Of particular interest are the recently commenced clinical trials involving agents which affect key steps in the presumed pathogenesis of the tauopathies. The distinctive and recognizable characteristics of PSP-RS and advent of clinical trials involving potential disease modifying agents underscore the importance of identifying patients with this disorder and encouraging their involvement in trials. PMID:22166432

  17. Monocular Elevation Deficiency - Double Elevator Palsy

    MedlinePlus

    ... Eye Terms Conditions Frequently Asked Questions Español Condiciones Chinese Conditions Monocular Elevation Deficiency/ Double Elevator Palsy En Español Read in Chinese What is monocular elevation deficiency (Double Elevator Palsy)? ...

  18. Monocular Elevation Deficiency - Double Elevator Palsy

    MedlinePlus

    ... Español Condiciones Chinese Conditions Monocular Elevation Deficiency/ Double Elevator Palsy En Español Read in Chinese What is monocular elevation deficiency (Double Elevator Palsy)? Monocular Elevation Deficiency, also known by the ...

  19. Genetics Home Reference: progressive supranuclear palsy

    MedlinePlus

    ... Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this ...

  20. Facial nerve palsy due to birth trauma

    MedlinePlus

    Seventh cranial nerve palsy due to birth trauma ... these factors do not lead to facial nerve palsy or birth trauma. ... The most common form of facial nerve palsy due to birth trauma ... This part controls the muscles around the lips. The muscle ...

  1. Behaviour Problems Amongst Children With Cerebral Palsy.

    ERIC Educational Resources Information Center

    Oswin, Maureen

    Based on 6 years of work with cerebral palsied children, the thesis considers types and causes of cerebral palsy, the life pattern of the child with cerebral palsy from early years to adolescence, and the effect of the handicapped child on his parents and family. Literature on behavior disorders is reviewed, and kinds of behavior problems are…

  2. Neuroevolutional Approach to Cerebral Palsy and Speech.

    ERIC Educational Resources Information Center

    Mysak, Edward D.

    Intended for cerebral palsy specialists, the book emphasizes the contribution that a neuroevolutional approach to therapy can make to habilitation goals of the child with cerebral palsy and applies the basic principles of the Bobath approach to therapy. The first section discusses cerebral palsy as a reflection of disturbed neuro-ontogenisis and…

  3. Injection nerve palsy

    PubMed Central

    Kakati, Arindhom; Bhat, Dhananjaya; Devi, Bhagavathula Indira; Shukla, Dhaval

    2013-01-01

    Objective: To study the clinical profile and outcome of surgery for injection nerve palsies. Materials and Methods: This is a retrospective study of patients with INP who were treated at our institute during May 2000 to May 2009. Clinical, electroneuromyography (ENMG), and operative findings were noted. Intraoperative nerve action potential monitoring was not used in any case. Outcome of patients who were followed was reviewed. Results: INP comprised 92 (11%) of 837 nerve injury patients. Seventy one patients were children less than 16 years. The nerves involved were sciatic in 80 patients, radial in 8, and others in four. Fifty seven patients had power, grade 0/5. ENMG studies revealed absent compound muscle action potential in 64 and absent sensory nerve action potential in 67 patients. Thirty nine (42.3%) of 92 patients underwent surgery. The mean duration since injury in these patients was 5.2 months (3 months to 11 months). All underwent neurolysis. Only 18 patients who underwent surgery had a follow up of more than 3 months. Ten (55.5%) patients had good or fair outcome after surgery. Except for grade of motor deficit prior to surgery, none of the variables were found to significantly affect the outcome. Conclusion: The outcome of INP is generally good and many patients recover spontaneously. The outcome of surgery is dependent on preoperative motor power. PMID:23546341

  4. Zolpidem in Progressive Supranuclear Palsy

    PubMed Central

    Dash, Sandip K.

    2013-01-01

    Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder, characterized by motor symptoms, postural instability, personality changes, and cognitive impairment. There is no effective treatment for this disorder. Reduced neurotransmission of GABA in the striatum and globus pallidus may contribute to the symptoms of motor and cognitive symptoms seen in PSP. Zolpidem is a GABA agonist of the benzodiazepine subreceptor BZ1. Here a nondiabetic, normotensive case of PSP is (Progressive Supranuclear Palsy) described, which showed improvement in swallowing, speech, and gaze paresis after zolpidem therapy and possible mechanism of actions are discussed. However, more trials are needed with large number of patients to confirm the effectiveness of zolpidem in progressive supranuclear palsy. PMID:23762677

  5. [Management of peripheral facial nerve palsy in children].

    PubMed

    Tabarki, B

    2014-10-01

    Peripheral facial nerve palsy may (secondary) or may not have a detectable cause (idiopathic facial palsy or Bell's palsy). Idiopathic facial palsy is the common form of facial palsy. It remains diagnosis by exclusion. The prognosis is more favourable in children than in adults. We present current diagnostic procedures and recommendations regarding treatment in children. PMID:25048647

  6. Cerebral Palsy: A Dental Update

    PubMed Central

    Sehrawat, Nidhi; Bansal, Kalpana; Chopra, Radhika

    2014-01-01

    ABSTRACT Special and medically compromised patients present a unique population that challenges the dentist’s skill and knowledge. Providing oral care to people with cerebral palsy (CP) requires adaptation of the skills we use everyday. In fact, most people with mild or moderate forms of CP can be treated successfully in the general practice setting. This article is to review various dental considerations and management of a CP patient. How to cite this article: Sehrawat N, Marwaha M, Bansal K, Chopra R. Cerebral Palsy: A Dental Update. Int J Clin Pediatr Dent 2014;7(2):109-118. PMID:25356010

  7. Contemporary management of Bell palsy.

    PubMed

    Jowett, Nate; Hadlock, Tessa A

    2015-04-01

    Bell palsy (BP) is the most common diagnosis in acute and chronic facial palsy. Although most patients fully recover, more than one-quarter will have residual dysfunction. Of these, nearly half will demonstrate severe limitations in facial expression. Though significant attention has been paid to acute management and prognosis, a paucity of literature exists addressing management of the long-term sequelae of BP. This article describes contemporary use of physical therapy, injectables, and static and dynamic surgical procedures in facial reanimation of acute and chronic BP. PMID:25958893

  8. Cerebral palsy and aging

    PubMed Central

    Haak, Peterson; Lenski, Madeleine; Hidecker, Mary Jo Cooley; Li, Min; Paneth, Nigel

    2014-01-01

    Cerebral palsy (CP), the most common major disabling motor disorder of childhood, is frequently thought of as a condition that affects only children. Deaths in children with CP, never common, have in recent years become very rare, unless the child is very severely and multiply disabled. Thus, virtually all children assigned the diagnosis of CP will survive into adulthood. Attention to the adult with CP has been sparse, and the evolution of the motor disorder as the individual moves through adolescence, young adulthood, middle age, and old age is not well understood. Nor do we know what happens to other functional domains, such as communication and eating behavior, in adults with CP. Although the brain injury that initially causes CP by definition does not progressively worsen through the lifetime, the effects of CP manifest differently throughout the life span. The aging process must inevitably interact with the motor disorder, but we lack systematic, large-scale follow-up studies of children with CP into adulthood and through adulthood with thorough assessments performed over time. In this paper we summarize what is known of the epidemiology of CP throughout the life span, beginning with mortality and life expectancy, then survey what is known of functioning, ability, and quality of life of adults with CP. We conclude by describing a framework for future research on CP and aging that is built around the World Health Organization's International Classification of Functioning, Disability, and Health (ICF) and suggest specific tools and approaches for conducting that research in a sound manner. PMID:19740206

  9. What's new in cerebral palsy.

    PubMed

    JONES, M H

    1953-11-01

    Among new researches bearing on cerebral palsy are the growth of brain cells in tissue cultures for experimentation; the use of polysaccharides to prevent the formation of a glial barrier to nerve growth after injury; observation of changes in reactions of neurons at various stages of development; the finding of hypernatremia and hyperchloremia in lesions of the frontal lobe and the thalamus; stimulation of cerebral blood flow by injection of sodium bicarbonate and retardation with ammonium chloride; and studies of serial sections of brains of palsied children who died. Study of development in the early months of life has made possible the detection of significant abnormalities in behavior early in life. Loss of hearing may be tested in very young children by measuring minute variations in electrical resistance of the skin upon auditory stimulation of the sympathetic nervous system. Conditions which have been described as having been confused with cerebral palsy are dislocation of a cervical vertebra, hereditary spastic paraplegia, transverse myelopathy, injury to the spinal cord or cauda equina by anomalous growths of the spine, and also encephalitis and meningitis. Sedation has proved a valuable adjunct to electroencephalographic study of cerebral palsy. Better criteria for abnormality in the young child should be determined and the application of them more clearly standardized. Simple exercises are useful for early training of palsied children to stimulate development. "Crossed laterality"-the dominant eye being contralateral to the preferred hand-has been counteracted by special training with great success in eliminating emotional and behavior problems and accelerating development.Recent studies indicate that only 50 per cent of cerebral palsy patients have normal or better intelligence. Subluxation of the hip joint, a common deformity associated with cerebral palsy, can sometimes be corrected by operation if detected at an early stage. Radical ablation of

  10. [Alpha herpes virus and facial palsy].

    PubMed

    Murakami, S; Miyamoto, N; Watanabe, N; Matsuda, F

    2000-04-01

    Alpha herpes virus is the major causes of peripheral facial palsy such as Bell's palsy or Ramsay Hunt syndrome. Ramsay Hunt syndrome is caused by varicella zoster virus (VZV) infection, and can be diagnosed by facial nerve paralysis associated with herpetic eruption on the pinna, and complication of by vestibulo-cochlear dysfunction. On the other hand, Bell's palsy presents only facial palsy and its diagnosis is made by the exclusion of known conditions. The causes of Bell's palsy had been unknown for many years, however, recently it was revealed that herpes simplex type 1 was the major cause of Bell's palsy by PCR. Because early treatment with acyclovir and prednisone was proven to be effective, we should make efforts to diagnose these diseases as early as possible. PMID:10774214

  11. Sphenoethmoidal mucocele masquerading as trochlear palsy.

    PubMed

    Kimakura, Mikiko; Oishi, Akio; Miyamoto, Kazuaki; Yoshimura, Nagahisa

    2009-12-01

    Acquired vertical strabismus is commonly caused by superior oblique muscle palsy, often resulting from blunt head trauma or vascular problems, and less often from brain tumors, meningitis, and aneurysms. To date, mucoceles in the ethmoid sinus have rarely been reported as a cause for superior oblique muscle palsy. We report a case of trochlear nerve palsy and subsequent optic neuropathy caused by a mucocele in the ethmoid and sphenoid sinuses. PMID:19879786

  12. Common questions about Bell palsy.

    PubMed

    Albers, Janet R; Tamang, Stephen

    2014-02-01

    Bell palsy is an acute affliction of the facial nerve, resulting in sudden paralysis or weakness of the muscles on one side of the face. Testing patients with unilateral facial paralysis for diabetes mellitus or Lyme disease is not routinely recommended. Patients with Lyme disease typically present with additional manifestations, such as arthritis, rash, or facial swelling. Diabetes may be a comorbidity of Bell palsy, but testing is not needed in the absence of other indications, such as hypertension. In patients with atypical symptoms, magnetic resonance imaging with contrast enhancement can be used to rule out cranial mass effect and to add prognostic value. Steroids improve resolution of symptoms in patients with Bell palsy and remain the preferred treatment. Antiviral agents have a limited role, and may improve outcomes when combined with steroids in patients with severe symptoms. When facial paralysis is prolonged, surgery may be indicated to prevent ocular desiccation secondary to incomplete eyelid closure. Facial nerve decompression is rarely indicated or performed. Physical therapy modalities, including electrostimulation, exercise, and massage, are neither beneficial nor harmful. PMID:24506123

  13. Bone age in cerebral palsy

    PubMed Central

    Miranda, Eduardo Régis de Alencar Bona; Palmieri, Maurício D'arc; de Assumpção, Rodrigo Montezuma César; Yamada, Helder Henzo; Rancan, Daniela Regina; Fucs, Patrícia Maria de Moraes Barros

    2013-01-01

    Objective To compare the chronological age and bone age among cerebral palsy patients in the outpatient clinic and its correlation with the type of neurological involvement, gender and functional status. Methods 401 patients with spastic cerebral palsy, and ages ranging from three months to 20 years old, submitted to radiological examination for bone age and analyzed by two independent observers according Greulich & Pyle. Results In the topographic distribution, there was a significant delay (p<0.005) in tetraparetic (17.7 months), hemiparetic (10.1 months), and diparetic patients (7.9 months). In the hemiparetic group, the mean bone age in the affected side was 96.88 months and the uncompromised side was 101.13 months (p<0.005). Regarding functional status, the ambulatory group showed a delay of 18.73 months in bone age (p<0.005). Comparing bone age between genders, it was observed a greater delay in males (13.59 months) than in females (9.63 months), but not statistically significant (p = 0.54). Conclusion There is a delay in bone age compared to chronological age influenced by the topography of spasticity, functional level and gender in patients with cerebral palsy. Level of Evidence IV, Case Series. PMID:24453693

  14. Genetic factors for nerve susceptibility to injuries – lessons from PMP22 deficiency

    PubMed Central

    Li, Jun

    2014-01-01

    Genetic factors may be learnt from families with gene mutations that render nerve-injury susceptibility even to ordinary physical activities. A typical example is hereditary neuropathy with liability to pressure palsies (HNPP). HNPP is caused by a heterozygous deletion of PMP22 gene. PMP22 deficiency disrupts myelin junctions (such as tight junction and adherens junctions), leading to abnormally increased myelin permeability that explains the nerve susceptibility to injury. This finding should motivate investigators to identify additional genetic factors contributing to nerve vulnerability of injury. PMID:25374586

  15. Genetic factors for nerve susceptibility to injuries - lessons from PMP22 deficiency.

    PubMed

    Li, Jun

    2014-09-15

    Genetic factors may be learnt from families with gene mutations that render nerve-injury susceptibility even to ordinary physical activities. A typical example is hereditary neuropathy with liability to pressure palsies (HNPP). HNPP is caused by a heterozygous deletion of PMP22 gene. PMP22 deficiency disrupts myelin junctions (such as tight junction and adherens junctions), leading to abnormally increased myelin permeability that explains the nerve susceptibility to injury. This finding should motivate investigators to identify additional genetic factors contributing to nerve vulnerability of injury. PMID:25374586

  16. Mobility Experiences of Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Palisano, Robert J.; Shimmell, Lorie J.; Stewart, Debra; Lawless, John J.; Rosenbaum, Peter L.; Russell, Dianne J.

    2009-01-01

    The purpose of this study was to describe how youth with cerebral palsy experience mobility in their daily lives using a phenomenological approach. The participants were 10 youth with cerebral palsy, 17 to 20 years of age, selected using purposeful sampling with maximum variation strategies. A total of 14 interviews were completed. Transcripts…

  17. Cystic fibrosis presenting with bilateral facial palsy.

    PubMed

    Basu, Anna P; Kumar, Prashant; Devlin, Anita M; O'Brien, Christopher J

    2007-07-01

    A 15-week old male infant presented with bilateral lower motor neuron facial palsy of unknown cause. Subsequently his growth deteriorated and he developed progressively worsening cough and wheeze. A diagnosis of cystic fibrosis was confirmed and hypovitaminosis A detected. Improvement of the facial palsy was noted following standard management of cystic fibrosis including vitamin A supplementation. PMID:17287135

  18. New Hope for Children with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Obringer, S. John

    This paper explains the use of a unique experimental therapy for students with a type of cerebral palsy specifically called Botox. Botulinum Toxin Type A has been tried on a sizable number of students with cerebral palsy in clinical settings to reduce spastic and dystonic movements. By injecting Botox into overly tight heel cords, a normal or near…

  19. Clinical practice guideline: Bell's Palsy executive summary.

    PubMed

    Baugh, Reginald F; Basura, Gregory J; Ishii, Lisa E; Schwartz, Seth R; Drumheller, Caitlin Murray; Burkholder, Rebecca; Deckard, Nathan A; Dawson, Cindy; Driscoll, Colin; Gillespie, M Boyd; Gurgel, Richard K; Halperin, John; Khalid, Ayesha N; Kumar, Kaparaboyna Ashok; Micco, Alan; Munsell, Debra; Rosenbaum, Steven; Vaughan, William

    2013-11-01

    The American Academy of Otolaryngology-Head and Neck Surgery Foundation (AAO-HNSF) has published a supplement to this issue featuring the new Clinical Practice Guideline: Bell's Palsy. To assist in implementing the guideline recommendations, this article summarizes the rationale, purpose, and key action statements. The 11 recommendations developed encourage accurate and efficient diagnosis and treatment and, when applicable, facilitate patient follow-up to address the management of long-term sequelae or evaluation of new or worsening symptoms not indicative of Bell's palsy. There are myriad treatment options for Bell's palsy; some controversy exists regarding the effectiveness of several of these options, and there are consequent variations in care. In addition, there are numerous diagnostic tests available that are used in the evaluation of patients with Bell's palsy. Many of these tests are of questionable benefit in Bell's palsy. Furthermore, while patients with Bell's palsy enter the health care system with facial paresis/paralysis as a primary complaint, not all patients with facial paresis/paralysis have Bell's palsy. It is a concern that patients with alternative underlying etiologies may be misdiagnosed or have an unnecessary delay in diagnosis. All of these quality concerns provide an important opportunity for improvement in the diagnosis and management of patients with Bell's palsy. PMID:24190889

  20. UNDERSTANDING CEREBRAL PALSY, A HANDBOOK FOR PARENTS.

    ERIC Educational Resources Information Center

    HATTON, DANIEL A.

    THIS MANUAL, WRITTEN BY A PSYCHOLOGIST, PROVIDES BASIC INFORMATION ABOUT THE NATURE OF CEREBRAL PALSY AND DISCUSSES FEELINGS AND REACTIONS OF PARENTS OF CEREBRAL PALSIED CHILDREN. INFORMATION ABOUT THE BRAIN AND BRAIN DAMAGE IN RELATION TO MOTOR AND EMOTIONAL FUNCTION, PERCEPTION AND INTELLIGENCE IS PRESENTED. PART TWO GIVES INSIGHT INTO PROBLEMS…

  1. CEREBRAL PALSY. PRENTICE-HALL FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    CHANCE, BURTON, JR.; MCDONALD, EUGENE T.

    THIS INTRODUCTORY TEXT ON CEREBRAL PALSY IS DIVIDED INTO TWO SECTIONS. THE FIRST SECTION OF THE BOOK CONTAINS INFORMATION ABOUT UNDERSTANDING THE MEANING OF CEREBRAL PALSY, PROGRAMS FOR THOSE WITH CEREBRAL PALSY, THE NEUROLOGICAL BASES, ETIOLOGY, AND DIAGNOSIS, AND THE CLASSIFICATION OF CEREBRAL PALSY. PROBLEMS OFTEN ASSOCIATED WITH CEREBRAL PALSY…

  2. Caring for Children with Cerebral Palsy: A Team Approach.

    ERIC Educational Resources Information Center

    Dormans, John P., Ed.; Pellegrino, Louis, Ed.

    Twenty-one papers on caring for children with cerebral palsy are organized into four sections, including: (1) cerebral palsy and the interdisciplinary team approach; (2) management of impairments related to cerebral palsy; (3) preventing disability by optimizing function of the child with cerebral palsy; and (4) preventing handicap by creating…

  3. Early Observations on Facial Palsy.

    PubMed

    Pearce, J M S

    2015-01-01

    Before Charles Bell's eponymous account of facial palsy, physicians of the Graeco-Roman era had chronicled the condition. The later neglected accounts of the Persian physicians Abu al-Hasan Ali ibn Sahl Rabban al-Tabari and Abu Bakr Muhammad ibn Zakarīya Rāzi ("Rhazes") and Avicenna in the first millennium are presented here as major descriptive works preceding the later description by Stalpart van der Wiel in the seventeenth century and those of Friedreich and Bell at the end of the eighteenth and the beginning of the nineteenth centuries. PMID:25513852

  4. Lifetime costs of cerebral palsy.

    PubMed

    Kruse, Marie; Michelsen, Susan Ishøy; Flachs, Esben Meulengracht; Brønnum-Hansen, Henrik; Madsen, Mette; Uldall, Peter

    2009-08-01

    This study quantified the lifetime costs of cerebral palsy (CP) in a register-based setting. It was the first study outside the US to assess the lifetime costs of CP. The lifetime costs attributable to CP were divided into three categories: health care costs, productivity costs, and social costs. The population analysed was retrieved from the Danish Cerebral Palsy Register, which covers the eastern part of the country and has registered about half of the Danish population of individuals with CP since 1950. For this study we analysed 2367 individuals with CP, who were born in 1930 to 2000 and were alive in 2000. The prevalence of CP in eastern Denmark was approximately 1.7 per 1000. Information on productivity and the use of health care was retrieved from registers. The lifetime cost of CP was about 860,000 euro for men and about 800,000 euro for women. The largest component was social care costs, particularly during childhood. A sensitivity analysis found that alterations in social care costs had a small effect, whereas lowering the discount rate from 5 to 3 per cent markedly increased total lifetime costs. Discounting decreases the value of costs in the future compared with the present. The high social care costs and productivity costs associated with CP point to a potential gain from labour market interventions that benefit individuals with CP. PMID:19416329

  5. Ecchordosis physaliphora presenting with abducens nerve palsy.

    PubMed

    Ahn, Sung Soo; Han, Jinu

    2016-06-01

    We report a case of sudden-onset abducens nerve palsy in a 15-year-old boy with ecchordosis physaliphora, a benign retroclival remnant that is usually asymptomatic. Most reported symptomatic cases have been treated with resection via craniotomy or endoscopic resection. Our patient recovered after a short course of oral corticosteroids, but the abducens nerve palsy recurred 6 months later. PMID:27060668

  6. Delayed facial nerve decompression for Bell's palsy.

    PubMed

    Kim, Sang Hoon; Jung, Junyang; Lee, Jong Ha; Byun, Jae Yong; Park, Moon Suh; Yeo, Seung Geun

    2016-07-01

    Incomplete recovery of facial motor function continues to be long-term sequelae in some patients with Bell's palsy. The purpose of this study was to investigate the efficacy of transmastoid facial nerve decompression after steroid and antiviral treatment in patients with late stage Bell's palsy. Twelve patients underwent surgical decompression for Bell's palsy 21-70 days after onset, whereas 22 patients were followed up after steroid and antiviral therapy without decompression. Surgical criteria included greater than 90 % degeneration on electroneuronography and no voluntary electromyography potentials. This study was a retrospective study of electrodiagnostic data and medical chart review between 2006 and 2013. Recovery from facial palsy was assessed using the House-Brackmann grading system. Final recovery rate did not differ significantly in the two groups; however, all patients in the decompression group recovered to at least House-Brackmann grade III at final follow-up. Although postoperative hearing threshold was increased in both groups, there was no significant between group difference in hearing threshold. Transmastoid decompression of the facial nerve in patients with severe late stage Bell's palsy at risk for a poor facial nerve outcome reduced severe complications of facial palsy with minimal morbidity. PMID:26319412

  7. Surgical management of third nerve palsy

    PubMed Central

    Singh, Anupam; Bahuguna, Chirag; Nagpal, Ritu; Kumar, Barun

    2016-01-01

    Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell's phenomenon, superior oblique (SO) overaction, and lateral rectus (LR) contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. The common causes of isolated third nerve palsy in children are congenital (43%), trauma (20%), inflammation (13%), aneurysm (7%), and ophthalmoplegic migraine. Whereas, in adult population, common etiologies are vasculopathic disorders (diabetes mellitus, hypertension), aneurysm, and trauma. Treatment can be both nonsurgical and surgical. As nonsurgical modalities are not of much help, surgery remains the main-stay of treatment. Surgical strategies are different for complete and partial third nerve palsy. Surgery for complete third nerve palsy may involve supra-maximal recession - resection of the recti. This may be combined with SO transposition and augmented by surgery on the other eye. For partial third nerve, palsy surgery is determined according to nature and extent of involvement of extraocular muscles. PMID:27433033

  8. Cerebral Palsy Gait, Clinical Importance

    PubMed Central

    TUGUI, Raluca Dana; ANTONESCU, Dinu

    2013-01-01

    ABSTRACT Cerebral palsy refers to a lesion on an immature brain, that determines permanent neurological disorders. Knowing the exact cause of the disease does not alter the treatment management. The etiology is 2-2.5/1000 births and the rate is constant in the last 40-50 years because advances in medical technologies have permitted the survival of smaller and premature new born children. Gait analysis has four directions: kinematics (represents body movements analysis without calculating the forces), kinetics (represents body moments and forces), energy consumption (measured by oximetry), and neuromuscular activity (measured by EMG). Gait analysis can observe specific deviations in a patient, allowing us to be more accurate in motor diagnoses and treatment solutions: surgery intervention, botulinum toxin injection, use of orthosis, physical kinetic therapy, oral medications, baclofen pump. PMID:24790675

  9. Acute unilateral facial nerve palsy.

    PubMed

    Yeong, Siew Swan; Tassone, Peter

    2011-05-01

    Mrs PS, 78 years of age, presented with acute left-sided otalgia, ear swelling and subsequent unilateral facial paralysis (Figure 1). She denied any otorrhoea or hearing loss. Past medical history relevant to the presenting complaint included: * Bell palsy diagnosed 20 years ago with no residual effect * biopsy confirmed benign parotid lump (diagnosed 3 years previously). Histopathology revealed a pleomorphic adenoma. Mrs PS declined surgical intervention at the time * chicken pox as a child * normal fasting blood glucose 1 month previously and no known immune compromise. Examination revealed yellow crusts and small vesicles on the external acoustic meatus (Figure 2). A 10 mm well defined firm and nontender nodule was palpable at the ramus of the mandible. PMID:21597548

  10. Genetics of Progressive Supranuclear Palsy

    PubMed Central

    Im, Sun Young; Kim, Young Eun; Kim, Yun Joong

    2015-01-01

    Progressive supranuclear palsy (PSP) is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c) is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies. PMID:26413239

  11. Bell's Palsy: Treatment with Steroids and Antiviral Drugs

    MedlinePlus

    ... PATIENTS and their FAMILIES BELL’S PALSY: TREATMENT WITH STEROIDS AND ANTIVIRAL DRUGS This information sheet is provided to help you understand the role of steroids and antiviral drugs for treating Bell’s palsy. Neurologists ...

  12. An unusual cause of hoarseness and recurrent laryngeal nerve palsy.

    PubMed

    Truong, Phat; Dickerson, Lisa

    2016-08-01

    Recurrent laryngeal nerve palsy and thyroid disease suggest locally invasive thyroid malignancy. In contrast, recurrent laryngeal nerve palsy caused by benign multinodular goiters or ectopic thyroid tissue accounts for only 1% of cases. This article describes an unusual case of recurrent laryngeal nerve palsy secondary to a benign ectopic retrosternal thyroid tissue mass. Recurrent laryngeal nerve palsy should be considered in the differential diagnosis of patients presenting with progressive voice weakness and hoarseness. PMID:27467296

  13. Child Abuse in a Cerebral-Palsied Population.

    ERIC Educational Resources Information Center

    Diamond, Linda J.; Jaudes, Paula K.

    1983-01-01

    Of 86 cerebral-palsied children (six months-eight years old) in one care center, 17 had been abused. Eight of these children's cerebral palsy was a result of abuse. Findings suggest a high incidence of child abuse among children with cerebral palsy. Journal Availability: See DC 152 470. (Author/CL)

  14. Mental Imagery Abilities in Adolescents with Spastic Diplegic Cerebral Palsy

    ERIC Educational Resources Information Center

    Courbois, Yanick; Coello, Yann; Bouchart, Isabelle

    2004-01-01

    Four visual imagery tasks were presented to three groups of adolescents with or without spastic diplegic cerebral palsy. The first group was composed of six adolescents with cerebral palsy who had associated visual-perceptual deficits (CP-PD), the second group was composed of five adolescents with cerebral palsy and no associated visual-perceptual…

  15. Hand Functioning in Children with Cerebral Palsy

    PubMed Central

    Arnould, Carlyne; Bleyenheuft, Yannick; Thonnard, Jean-Louis

    2014-01-01

    Brain lesions may disturb hand functioning in children with cerebral palsy (CP), making it difficult or even impossible for them to perform several manual activities. Most conventional treatments for hand dysfunction in CP assume that reducing the hand dysfunctions will improve the capacity to manage activities (i.e., manual ability, MA). The aim of this study was to investigate the directional relationships (direct and indirect pathways) through which hand skills influence MA in children with CP. A total of 136 children with CP (mean age: 10 years; range: 6–16 years; 35 quadriplegics, 24 diplegics, 77 hemiplegics) were assessed. Six hand skills were measured on both hands: touch-pressure detection (Semmes–Weinstein esthesiometer), stereognosis (Manual Form Perception Test), proprioception (passive mobilization of the metacarpophalangeal joints), grip strength (GS) (Jamar dynamometer), gross manual dexterity (GMD) (Box and Block Test), and fine finger dexterity (Purdue Pegboard Test). MA was measured with the ABILHAND-Kids questionnaire. Correlation coefficients were used to determine the linear associations between observed variables. A path analysis of structural equation modeling was applied to test different models of causal relationships among the observed variables. Purely sensory impairments did seem not to play a significant role in the capacity to perform manual activities. According to path analysis, GMD in both hands and stereognosis in the dominant hand were directly related to MA, whereas GS was indirectly related to MA through its relationship with GMD. However, one-third of the variance in MA measures could not be explained by hand skills. It can be concluded that MA is not simply the integration of hand skills in daily activities and should be treated per se, supporting activity-based interventions. PMID:24782821

  16. Hypertropia in unilateral isolated abducens palsy

    PubMed Central

    Pihlblad, Matthew S.; Demer, Joseph L.

    2014-01-01

    Purpose To evaluate the incidence and features of hypertropia in abducens nerve palsy. Methods The records of consecutive patients with unilateral, isolated, previously unoperated abducens nerve palsy were reviewed for binocular alignment on cover testing, Krimsky measurement, or Hess screen testing. Patients with associated cranial nerve palsy (including bilateral abducens palsies), orbital disease, myasthenia gravis, Horner syndrome, hemiplegia, cerebellar signs, arteritis, or previous strabismus surgery were excluded. Control subjects underwent complete examination to confirm normality. Results A total of 79 patients were included (40 males; mean age 49.2 years). Hypertropia in lateral or central gazes was present in 15 of 79 cases (19%) on alternate cover or Krimsky testing, in 32 of 56 cases (57%) on Hess screen testing, and absent in all 30 normal controls. Of cases with hypertropia, the mean of the greatest hypertropia in lateral or central gaze on was 5.0Δ ± 2.3Δ (standard deviation; range, 1Δ–8Δ) routine clinical examination, and 5.8Δ ± 4.2Δ (range, 2Δ–24Δ) on Hess screen testing. Of 39 cases with partial abducens palsy evaluated by Hess screen testing, the ipsilesional eye was hypertropic in 24 (61%) and hypotropic in 15 cases (39%). Conclusions Small-angle hypertropia is common in isolated, unilateral abducens and does not necessarily imply existence of multiple cranial neuropathies or skew deviation. PMID:24924275

  17. The hip in cerebral palsy.

    PubMed

    Bleck, E E

    1980-01-01

    Orthopedic surgery can alleviate the hip flexion, adduction, and medial rotation deformities of the hip and improve the function and appearance of gait. To accomplish this, however, careful examination and prudence in the operative procedure to avoid overdoing and overcorrecting are important. Orthopedic surgery can prevent subluxation and dislocation of the hip before the age of seven years, and consequently repetitive radiographic examinations of the hip in children who have spastic paralysis of the hip musculature should be a routine procedure. Subluxation and dislocation of the hip, when established, can be successfully treated with orthopedic surgical procedures. Physicians must keep in mind that the spastic paralysis of cerebral palsy originates in the brain, and therefore the spasticity cannot be eliminated. The best that can be done is to weaken or remove some muscles as deforming forces and to achieve compromises for continued function. The goal should be optimal independence for the child and adolescent during development, and freedom from pain with deteriorating function due to degenerative arthritis in the adult. PMID:7360505

  18. Bone Density in Cerebral Palsy

    PubMed Central

    Houlihan, Christine Murray; Stevenson, Richard D.

    2010-01-01

    Osteoporosis is a skeletal disorder characterized by compromised bone strength predisposing a person to an increased risk of fracture.1 Osteoporosis remains a major health problem worldwide, costing an estimated $13.8 billion in health care each year in the United States. Despite advances in treating osteoporosis in the elderly, no cure exists. Osteoporosis has its roots in childhood. Accrual of bone mass occurs throughout childhood and early adulthood, and peak bone mass is a key determinant of the lifetime risk of osteoporosis. Because the foundation for skeletal health is established so early in life, osteoporosis prevention begins by optimizing gains in bone mineral throughout childhood and adolescence.2,3 Osteoporosis evaluation and prevention is relevant to children with cerebral palsy (CP). CP is the most prevalent childhood condition associated with osteoporosis. Bone density is significantly decreased, and children with CP often sustain painful fractures with minimal trauma that impair their function and quality of life. Preventing or improving osteoporosis and maximizing bone accrual during critical stages of growth will minimize the future lifelong risks of fractures in children with CP. This article addresses the anatomy and structure of bone and bone metabolism, the clinical assessment of bone mass, the causes of osteoporosis and its evaluation and treatment in children with CP. PMID:19643349

  19. Motor mapping in cerebral palsy.

    PubMed

    Wittenberg, George F

    2009-10-01

    The measurement of motor deficits in individuals with cerebral palsy (CP) has been largely based on clinical criteria. Yet functional imaging and non-invasive stimulation methods provide a means to measure directly abnormalities of the motor system. The size and location of muscles and movement representations can be determined with transcranial magnetic stimulation (TMS) and functional magnetics resonance imaging. Thus the homunculus can be individually mapped in children with CP. Because size of representation within the homunculus relates to quality of motor control, measurement of the distance between body parts provides a metric that may be useful in classifying deficits. Bilateral motor control in one hemisphere, while normal in neonates, persists variably in CP, providing another physiological metric. In this study, we used TMS to measure hand and ankle representations in a convenience sample of children with spastic CP. Overlapping thumb and ankle maps were found in children with both hemiplegia and diplegia, and these maps may be from either side of the body. While more participants are required to make conclusions about disability and compression/bilaterality of the homunculus, it appears as if TMS-derived metrics relate to motor abnormalities. These abnormal motor maps also are a therapeutic target, as stimulation methods are being developed as adjuncts to physical means of rehabilitation. PMID:19740221

  20. Cerebral palsy: A reconceptualization of the spectrum.

    PubMed

    Shapiro, Bruce K

    2004-08-01

    Approximately 50 years ago, interest in cerebral palsy increased, and the current definitions and classification were developed. The interplay among the dimensions of significant impairment, nonprogressive lesions, and persistence defines a group of children who were of interest to the researchers who developed the definition. Cerebral palsy as a definition does not attend to the broader issues of neurodevelopmental dysfunction. It isolates a portion of the spectrum of motor dysfunction and creates a category whose bounds are defined by a range of motor capability. The classifications of cerebral palsy that require revision are discussed. Some classifications should be discarded. Others should be brought in line with current knowledge and approaches. Still others should be modified to encompass the broader views of function and therapy that reflect the current expectations for persons with disabilities. PMID:15292880

  1. The history of facial palsy and spasm

    PubMed Central

    Sajadi, Mohamad-Reza M.; Tabatabaie, Seyed Mahmoud

    2011-01-01

    Although Sir Charles Bell was the first to provide the anatomic basis for the condition that bears his name, in recent years researchers have shown that other European physicians provided earlier clinical descriptions of peripheral cranial nerve 7 palsy. In this article, we describe the history of facial distortion by Greek, Roman, and Persian physicians, culminating in Razi's detailed description in al-Hawi. Razi distinguished facial muscle spasm from paralysis, distinguished central from peripheral lesions, gave the earliest description of loss of forehead wrinkling, and gave the earliest known description of bilateral facial palsy. In doing so, he accurately described the clinical hallmarks of a condition that we recognize as Bell palsy. PMID:21747074

  2. Extensive dural sinus thrombosis and bilateral lateral rectus palsy as an uncommon complication of chronic suppurative otitis media

    PubMed Central

    Balasubramanian, Anusha; Mohamad, Irfan; Sidek, Dinsuhaimi

    2013-01-01

    Dural venous sinus thrombosis, especially of the sigmoid sinus, is a known but uncommon intracranial extradural complication of chronic suppurative otitis media. Even rarer is the simultaneous occurrence of bilateral abducens palsy in the same patient. We report the case of an adolescent male who presented with signs of raised intracranial pressure, diplopia and bilateral lateral rectus palsy associated with a history of left ear discharge and neck swelling. Extensive dural sinus thrombosis extending right up to the left internal jugular vein was confirmed on CT imaging. The patient was successfully treated with thrombolytic agents and antibiotic therapy. The pathophysiology of the concurrent complications is discussed. PMID:23355565

  3. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

    PubMed

    Mathis, Stéphane; Corcia, Philippe; Tazir, Meriem; Camu, William; Magdelaine, Corinne; Latour, Philippe; Biberon, Julien; Guennoc, Anne-Marie; Richard, Laurence; Magy, Laurent; Funalot, Benoît; Vallat, Jean-Michel

    2014-06-01

    Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1.4 megabase CMT1A duplication and atypical presentation (electrophysiological, clinical or pathological): a 10 year-old girl with tomaculous lesions on nerve biopsy; a 26 year-old woman with recurrent paresthesiae and block conduction on the electrophysiological study; a 46 year-old woman with transient recurrent nerve palsies mimicking HNPP. These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype-phenotype correlations in Charcot-Marie-Tooth diseases. PMID:24792522

  4. The use of nerve conduction studies in determining the short-term outcome of Bell's palsy.

    PubMed

    Prakash, K M; Raymond, A A

    2003-03-01

    Bell's palsy is a common neurological problem causing considerable loss of self-esteem among patients. A prospective observational study was conducted to determine the short-term outcome of Bell's palsy at 1 month and 2 months after the onset and the relationship between these outcomes with facial nerve degeneration. We also determined if gender, age, diabetes, systolic and diastolic blood pressure influence the severity of facial nerve degeneration and the clinical outcome at 2 months after the onset. After clinically grading the newly diagnosed unilateral Bell's palsy patients using the House-Brackmann facial nerve grading system, nerve conduction studies of the facial nerve were done to determine the severity of facial nerve degeneration. The recovery of the facial paralysis was clinically graded again at the end of 1 month and 2 months from the onset. A total of 37 patients were recruited. There was a strong positive correlation between facial nerve degeneration and the clinical outcome of Bell's palsy at 1 month (r = 0.794; p < 0.0005) and 2 months (r = 0.732; p < 0.0005) after the onset. There was no significant correlation between either the facial nerve degeneration or the clinical outcome at 2 months with the patients' age (p = 0.288 and p = 0.799 respectively), systolic blood pressure (p = 0.425 and p = 0.933 respectively) or diastolic blood pressure (p = 0.243 and p = 0.579 respectively). Neither the severity of facial nerve degeneration nor the clinical outcome at 2 months were significantly different between male and female patients (p = 0.460 and p = 0.725 respectively) or diabetic and non-diabetic patients (p = 0.655 and p = 0.655 respectively). PMID:14556328

  5. Cognitive Styles of Students With Cerebral Palsy.

    ERIC Educational Resources Information Center

    Junkala, John; Talbot, Michael L.

    1982-01-01

    Because the Matching Familiar Figures Test has a heavy visual perceptual loading, its usefulness for measuring cognitive style was examined with cerebral palsied students, frequently characterized by ocular anomalies and visual perceptual deficits. The students' cognitive styles were qualitatively similar to nonhandicapped. Extraocular movements…

  6. Narrative Ability in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Holck, Pernille; Sandberg, Annika Dahlgren; Nettelbladt, Ulrika

    2011-01-01

    In a previous study a group of children with cerebral palsy (CP) were found to have considerable difficulties with narratives, performing several standard deviations below the criteria for the Information score of the Bus Story Test (BST). To examine in depth the performance of children with CP and a control group with typically developing (TD)…

  7. Gait Stability in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Bruijn, Sjoerd M.; Millard, Matthew; van Gestel, Leen; Meyns, Pieter; Jonkers, Ilse; Desloovere, Kaat

    2013-01-01

    Children with unilateral Cerebral Palsy (CP) have several gait impairments, amongst which impaired gait stability may be one. We tested whether a newly developed stability measure (the foot placement estimator, FPE) which does not require long data series, can be used to asses gait stability in typically developing (TD) children as well as…

  8. Infantile progressive bulbar palsy with deafness.

    PubMed

    Voudris, Konstantinos A; Skardoutsou, Angeliki; Vagiakou, Eleni A

    2002-10-01

    A 12-month-old boy with progressive cranial nerve palsies followed by ventilatory failure demanding artificial ventilation, generalized muscle weakness, and rapid progression to death at the age of 21 months is described. The patient had normal early development and also apparently normal hearing at presentation of illness but, after 6 months of the onset of the disease, hearing loss was documented by brainstem auditory evoked potentials (BAEP). Although the initial clinical and laboratory findings of this infant could fit with the diagnosis of progressive childhood bulbar palsy or Fazio-Londe (FL) disease, the subsequent appearance of hearing loss suggests that this patient represents a case of progressive bulbar palsy with perceptive deafness or Brown-Vialetto-Van Laere (BVVL) syndrome. To our knowledge, this case of BVVL syndrome with severe clinical features and rapid deterioration leading to death is the youngest one reported in the literature. Furthermore, this case emphasizes the need for repeated auditory examinations, including the performance of BAEP in all cases, especially infants and young children with progressive bulbar palsy. PMID:12427524

  9. Cerebral palsy in two national cohort studies.

    PubMed

    Emond, A; Golding, J; Peckham, C

    1989-06-01

    The prevalence of cerebral palsy in the 1958 British Perinatal Mortality Survey and the 1970 British Births Survey remained constant at 2.5/1000 births (40 and 41 cases, respectively). The prevalence at 10 years was higher in the 1970 cohort in which all children with cerebral palsy survived, whereas 22% of the cases in the 1958 cohort died during the first 10 years of life. A case-control study matched three controls for social class, maternal age, parity and marital state, and a further three controls for the infant's sex, gestation, and birth weight. Comparison of cases and controls showed no consistent differences in social and environmental factors, history of pregnancy, labour, or delivery. Important differences were found in the incidence of respiratory and neurological symptoms in the neonatal period. These prospective data derived form two whole populations of births support the hypothesis that most cases of cerebral palsy are not associated with adverse obstetric factors, and confirm that neonatal neurological symptoms are associated with subsequent cerebral palsy. PMID:2774617

  10. Cerebral Palsy: Exceptional Child Bibliography Series.

    ERIC Educational Resources Information Center

    Council for Exceptional Children, Reston, VA. Information Center on Exceptional Children.

    Eighty-one references selected from Exceptional Child Education Abstracts are included in the annotated bibliography on cerebral palsy, one in a series of over 50 similar listings dealing with handicapped and gifted children. For each listing, bibliographic and availability information, indexing and retrieval descriptors, and an abstract are…

  11. Complementary and Alternative Therapies for Cerebral Palsy

    ERIC Educational Resources Information Center

    Liptak, Gregory S.

    2005-01-01

    The optimal practice of medicine includes integrating individual clinical expertise with the best available clinical evidence from systematic research. This article reviews nine treatment modalities used for children who have cerebral palsy (CP), including hyperbaric oxygen, the Adeli Suit, patterning, electrical stimulation, conductive education,…

  12. Pretend Play of Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Pfeifer, Luzia Iara; Pacciulio, Amanda Mota; dos Santos, Camila Abrao; dos Santos, Jair Licio; Stagnitti, Karen Ellen

    2011-01-01

    Background and Purpose: Evaluate self-initiated pretend play of children with cerebral palsy. Method: Twenty preschool children participated in the study. Pretend play ability was measured by using the child-initiated pretend play assessment culturally adapted to Brazil. Results: There were significant negative correlations between the children's…

  13. Cerebral Palsy--A Continuing Battle.

    ERIC Educational Resources Information Center

    Gullerud, Ruth A.

    1979-01-01

    A review of the changes in the treatment of and attitudes toward cerebral palsy in the last 30 years is presented. The author stresses the need for early diagnosis and evaluation, day care (especially respite care), counseling, transportation, special living arrangements, and integration of this population. (PHR)

  14. CEREBRAL PALSY, ITS INDIVIDUAL AND COMMUNITY PROBLEMS.

    ERIC Educational Resources Information Center

    CRUICKSHANK, WILLIAM M.; AND OTHERS

    IN THIS REVISED EDITION, ILLUSTRATED WITH 98 FIGURES AND TABLES, SOME ORIGINAL CHAPTERS HAVE BEEN EXPANDED, AND NEW CHAPTERS HAVE BEEN ADDED. CONTRIBUTING AUTHORS ARE LISTED, AND INCLUDE EDUCATORS, CLINICAL WORKERS, AND ADMINISTRATORS IN THE FIELD OF CEREBRAL PALSY. REFERENCES AND NOTES CONCLUDE EACH CHAPTER, AND SEVERAL CHAPTERS HAVE SECTIONS ON…

  15. Cochlear implant and delayed facial palsy.

    PubMed

    Joseph, Shawn Thadathil; Vishwakarma, Rajesh; Ramani, Mukesh Kumar; Aurora, Rupa

    2009-12-01

    Delayed facial nerve palsy following cochlear implant surgery is less documented though it poses diagnostic and therapeutic challenges. Apart from the functional, aesthetic and emotional concerns, it can raise important medico legal issues. The objectives of this study were: to report a case of delayed facial palsy following cochlear implant surgery in a patient who had positive viral antibody markers pre operatively; and to review the literature on delayed onset facial paralysis following viral reactivation and its relation to cochlear implant surgery. An extensive literature review was done using internet and medical search engines and library facilities. Important articles on the topic were identified and summarised. Data on delayed facial palsy following cochlear implant surgery were collected, constructed in a coherent way and details discussed. Postulated mechanisms of delayed facial palsy include neural oedema, vasospasm and viral reactivation. Of these, reactivation of previous herpes simplex virus infection has special significance, as many of these patients are positive for viral antibody markers. Manipulation of sensory branches of the facial nerve and chorda tympani can be a mechanism in such cases. Correlation of clinical presentation and pre operative positive viral antibody markers with positive polymerase chain reaction can be strongly suggestive of viral reactivation. It is concluded that patients with positive viral antibody markers are more susceptible to facial palsy from viral reactivation. Corticosteroids, antiviral agents and physiotherapy can be useful in producing a quicker and complete recovery. An experienced cochlear implant surgery team and pre operative radiological evaluations are mandatory to decrease the chances of direct facial nerve trauma. Proper irrigation lowers the risk of neural oedema. PMID:19194876

  16. Abducens nerve palsy in a girl with incomplete Kawasaki disease.

    PubMed

    Emiroglu, Melike; Alkan, Gulsum; Kartal, Ayse; Cimen, Derya

    2016-08-01

    Kawasaki disease (KD) is a systemic vasculitis that can involve the nervous system, including the cranial nerves. Central nervous system findings, especially irritability, lethargy, and aseptic meningitis, occur in 1-30 % of KD patients (1). Cranial nerve palsies are seen rarely, and abducens nerve palsy has been reported in only three children. We describe a 2.5-year-old girl with incomplete KD who developed transient abducens nerve palsy after intravenous immunoglobulin (IVIG) treatment. PMID:27329470

  17. Minor congenital anomalies and ataxic cerebral palsy.

    PubMed Central

    Miller, G

    1989-01-01

    The incidence of minor congenital anomalies was examined in 36 patients with ataxic cerebral palsy, in unaffected family members, and in 100 unrelated control subjects. None of the control subjects or family members had more than four anomalies, and 25 of 36 (69%) of the patients had more than four. The distribution of anomalies differed considerably, with 60% of the index cases having seven or more, and 94% of the controls having three or less. The number occurring in the patients was significantly more than in their relatives. Of the 25 patients with more than four anomalies, 16 (64%) had undergone potentially adverse perinatal or early postnatal events. Thus minor congenital anomalies were considerably more frequent in those with ataxic cerebral palsy than in related or unrelated control subjects. These anomalies may be markers of early prenatal factors that contributed to the adverse outcome either directly or by predisposing to perinatal difficulties. PMID:2751330

  18. Herpes zoster ophthalmicus associated with abducens palsy

    PubMed Central

    Chaker, Nibrass; Bouladi, Mejda; Chebil, Ahmed; Jemmeli, Mehdi; Mghaieth, Fatma; El Matri, Leila

    2014-01-01

    The extraocular muscle palsies associated with herpes zoster ophthalmicus (HZO) are transient, self-limiting conditions, usually seen in elderly patients. There are different treatment recommendations for paralytic complications, but prognosis has generally reported to be favorable. A 75-year-old male patient presented with diplopia. Clinical history revealed left facial vesicular eruptions and pain treated by oral aciclovir 1 week following symptom onset. On examination, we observed cicatricial lesions with crusts involving left hemiface, a limitation in abduction of the left eye, and a superficial punctuate keratitis (SPK) with decreased visual acuity (4/10). Examination of the right eye was unremarkable. Hess screen test confirmed left six nerve palsy. PMID:24966563

  19. Assessment of the hand in cerebral palsy

    PubMed Central

    Bhardwaj, Praveen; Sabapathy, S. Raja

    2011-01-01

    Cerebral palsy is the musculoskeletal manifestation of a nonprogressive central nervous system lesion that usually occurs due to a perinatal insult to the brain. Though the cerebral insult is static the musculoskeletal pathology is progressive. Some patients with cerebral palsy whose hands are affected can be made better by surgery. The surgical procedures as such are not very technically demanding but the assessment, decision-making, and selecting the procedures for the given patient make this field challenging. When done well, the results are rewarding not only in terms of improvement in hand function but also in appearance and personal hygiene, which leads to better self-image and permits better acceptance in the society. This article focuses on the clinical examination, patient selection, and decision-making while managing these patients. PMID:22022045

  20. Lagophthalmos after facial palsy: current therapeutic options.

    PubMed

    Vásquez, Luz María; Medel, Ramón

    2014-01-01

    As the facial nerve carries sensory, motor and parasympathetic fibres involved in facial muscle innervation, facial palsy results in functional and cosmetic impairment. It can result from a wide variety of causes like infectious processes, trauma, neoplasms, autoimmune diseases, and most commonly Bell's palsy, but it can also be of iatrogenic origin. The main ophthalmic sequel is lagophthalmos. The increased surface exposure increases the risk of keratitis, corneal ulceration, and potentially loss of vision. Treatment options are wide; some are temporary, some permanent. In addition to gold standard and traditional therapies and procedures, new options are being proposed aiming to improve not only lagophthalmos but also the quality of life of these patients. PMID:25342248

  1. [Cytomegalovirus mononucleosis complicated with peripheral facial palsy].

    PubMed

    Hirano, Taichi; Tsuji, Takahiro; Yamasaki, Hiroshi; Tsuda, Hiroyuki

    2014-03-01

    A 36-year-old woman was admitted to our hospital for further examination of an acute febrile illness with liver dysfunction. A peripheral blood smear displayed atypical lymphocytes. Cytomegalovirus (CMV) mononucleosis was diagnosed based on the detection of CMV-specific IgM and conventional CMV pp65 antigen. The physical examination on admission revealed signs of lower motor neuron right facial palsy. There were no significant cerebrospinal fluid findings, nor were there other neurological abnormalities. After receiving a short-course of oral corticosteroids, the patient gradually recovered from the facial paralysis. A one-month follow-up examination indicated that she had fully recovered neurologically, showing disappearance of CMV-DNA and a significant increase in the anti-CMV IgG titer. To our knowledge, there has been only one previous report describing CMV as the cause of an isolated facial palsy combined with CMV mononucleosis. PMID:24681941

  2. Isolated unilateral idiopathic transient hypoglossal nerve palsy

    PubMed Central

    Ahmed, Syed Viqar; Akram, Muhammad Saqub

    2014-01-01

    A 52-year-old Caucasian man presented with sudden onset of difficulty in moving his tongue to the left with preceding left-sided headache with no neck pain. Earlier, he had self-limiting chest infection without rashes or tonsillar enlargement. His medical and surgical history was unremarkable with no recent trauma. Oral examination revealed difficulty in protruding his tongue to the left with muscle bulk loss and fasciculation on the same side, suggesting left hypoglossal nerve palsy. Examination of the rest of the cranial nerves and nervous system was normal. The patient's oropharyngeal and laryngeal examination was unremarkable with no cervical lymphadenopathy. He had normal laboratory investigations and cerebrospinal fluid examination. Extensive imaging of the head, neck and chest failed to reveal any pathology. Further review by an otorhinologist and rheumatologist ruled out any other underlying pathology. He made a good recovery without treatment. English literature search revealed very few cases of idiopathic, transient, unilateral hypoglossal nerve palsy. PMID:24969070

  3. Trigeminal dysfunction in patients with Bell's palsy.

    PubMed

    Hanner, P; Badr, G; Rosenhall, U; Edström, S

    1986-01-01

    The trigeminal function was investigated in 30 consecutive patients with acute unilateral peripheral facial palsy. The patients were tested with electrophysiological methods within 5 weeks after onset of the disease. Trigeminus-evoked potential test (TEP) disclosed trigeminal dysfunction in 47%, while the blink reflex test (BR) showed trigeminal pathology in 60% of the patients. A topographical analysis of the trigeminal system showed that 24% of the patients had BR patterns that were consistent with brainstem involvement. In 2 cases (7%), TEP was pathological though the BR test proved normal. These findings suggest a more central trigeminal affection and may demonstrate multifocal lesions. This was further underlined by the investigation of the auditory brainstem response (ABR) which indicated brainstem involvement in 28%. It is concluded that acute facial palsy is frequently a symptom of a central nervous affection. PMID:3705951

  4. Tendon Transfers Part II: Transfers for Ulnar Nerve Palsy and Median Nerve Palsy

    PubMed Central

    Sammer, Douglas M.; Chung, Kevin C.

    2009-01-01

    Objectives After reading this article (part II of II), the participant should be able to: 1. Describe the anatomy and function of the median and ulnar nerves in the forearm and hand. 2. Describe the clinical deficits associated with injury to each nerve. 3. Describe the indications, benefits, and drawbacks for various tendon transfer procedures used to treat median and ulnar nerve palsy.4. Describe the treatment of combined nerve injuries. 5. Describe postoperative care and possible complications associated with these tendon transfer procedures. Summary This article discusses the use of tendon transfer procedures for treatment of median and ulnar nerve palsy as well as combined nerve palsies. Postoperative management and potential complications are also discussed. PMID:19730287

  5. Vestibular evoked myogenic potentials in Bell's palsy.

    PubMed

    Krbot Skoric, Magdalena; Adamec, Ivan; Habek, Mario

    2014-10-01

    The aim of the present study was to evaluate vestibular nerve involvement in patients with Bell's palsy with ocular and cervical vestibular evoked myogenic potentials (oVEMP and cVEMP). Ten patients who were diagnosed with Bell's palsy and ten healthy controls were included. All patients underwent VEMP recordings within 6 days after their initial presentation. Patients with Bell's palsy had greater oVEMP asymmetry ratio comparing to healthy controls (-38.4 ± 28.7 % vs -1.3 ± 19.3 %, p = 0.005). As well N10 latencies of the oVEMP response were prolonged comparing to healthy controls (11.575 vs 9.72 ms). There was no difference in cVEMP asymmetry ratio or latencies between groups. We found no correlation between House-Brackmann grading scale and oVEMP asymmetry ratio (r = 0.003, p = 0.994). There are three possible explanations for increased oVEMP amplitudes on the affected side: (1) oVEMP response on the ipsilateral eye could be contaminated by facial nerve activity (blink reflex); (2) the amplitude of N10-P33 could be affected through the stapedial reflex; and (3) increased oVEMP amplitude could be the consequence of the vestibular nerve dysfunction itself, with prolonged latencies of the N10 oVEMP further supporting this explanation. The results of this study indicate possible involvement of the superior branch of the vestibular nerve in patients with Bell's palsy. PMID:24916836

  6. The effects of hippotherapy on postural balance and functional ability in children with cerebral palsy

    PubMed Central

    Moraes, Andréa Gomes; Copetti, Fernando; Angelo, Vera Regina; Chiavoloni, Luana Leonardo; David, Ana Cristina

    2016-01-01

    [Purpose] This study evaluated the effects of hippotherapy on seated postural balance, dynamic balance, and functional performance in children with cerebral palsy and compared the effects of 12 and 24 sessions on seated postural balance. [Subjects and Methods] This study included 15 children with cerebral palsy aged between 5 and 10 years. Interventions: A hippotherapy protocol was performed for 30 minutes, twice a week, for 12 weeks. Postural balance in a sitting position was measured using an AMTI AccuSway Plus force platform 1 week before initiating the hippotherapy program and after 12 and 24 weeks. The Berg Balance Scale (BBS) and Pediatric Evaluation of Disability Inventory (PEDI) were used before and after 24 sessions. [Results] Significant differences were observed for center of pressure (COP) variables, including medio-lateral (COPml), anteroposterior displacement (COPap), and velocity of displacement (VelCOP), particularly after 24 sessions. There were also significant differences in BBS scores and PEDI score increases associated with functional skills (self-care, social function, and mobility), caregiver assistance (self-care), social function, and mobility. [Conclusion] Hippotherapy resulted in improvement in postural balance in the sitting position, dynamic balance, and functionality in children with cerebral palsy, an effect particularly significant after 24 hippotherapy sessions.

  7. Horizontal gaze palsy with progressive scoliosis in a Moroccan family.

    PubMed

    Handor, H; Laghmari, M; Hafidi, Z; Daoudi, R

    2014-04-01

    Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare clinical condition characterized by a combination of horizontal gaze palsy, pendular nystagmus and scoliosis. Only a few cases have been previously described in the literature. Our observations serve to document the first cases in Morocco. PMID:24559884

  8. Quality of Arithmetic Education for Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Jenks, Kathleen M.; de Moor, Jan; van Lieshout, Ernest C. D. M.; Withagen, Floortje

    2010-01-01

    The aim of this exploratory study was to investigate the quality of arithmetic education for children with cerebral palsy. The use of individual educational plans, amount of arithmetic instruction time, arithmetic instructional grouping, and type of arithmetic teaching method were explored in three groups: children with cerebral palsy (CP) in…

  9. Sixth cranial nerve palsy due to arachnoid cyst.

    PubMed

    Raveenthiran, Venkatachalam; Reshma, Khajamohideen B

    2014-01-01

    Sixth cranial nerve palsy is an extremely rare complication of an arachnoid cyst. A 4-year-old boy who presented with left abducens palsy and a subdural hygroma complicating arachnoid cyst is discussed. Comprehensive review of the world literature revealed only 12 additional cases. PMID:25347081

  10. Sixth cranial nerve palsy due to arachnoid cyst.

    PubMed

    Raveenthiran, Venkatachalam; Reshma, Khajamohideen B

    2014-01-01

    Sixth cranial nerve palsy is an extremely rare complication of an arachnoid cyst. A 4-year-old boy who presented with left abducens palsy and a subdural hygroma complicating arachnoid cyst is discussed. Comprehensive review of the world literature revealed only 12 additional cases. PMID:25608227

  11. Chemo-port insertion: A cause of vocal cord palsy.

    PubMed

    Alazzawi, Sarmad; Hindi, Khalid; Malik, Ausama; Wee, Chong Aun; Prepageran, Narayanan

    2015-11-01

    We describe extremely rare cases of vocal cord palsy following surgical insertion of a chemo port. Our cohort consisted of patients with cancer who developed hoarseness immediately after central venous line placement for the administration of chemotherapy, with vocal cord palsy confirmed with flexible laryngoscopy. Given the timing, central venous line placement appears to be the most likely cause. PMID:26108861

  12. Lateral rectus palsy following coronary angiography and percutaneous coronary intervention

    PubMed Central

    Nicholson, Luke; Jones, Ruth; Hughes, David S

    2014-01-01

    We present a rare case of unilateral lateral rectus palsy following an elective coronary angiography and percutaneous coronary intervention in a 78-year-oldwoman. Ophthalmoplegia following coronary angiography is extremely rare and this is the first case of a unilateral lateral rectus palsy following the procedure. PMID:24536054

  13. Increase in cerebral palsy in normal birthweight babies.

    PubMed Central

    Jarvis, S N; Holloway, J S; Hey, E N

    1985-01-01

    A register has been compiled of the 421 children with congenital cerebral palsy born between 1960 and 1975 from a defined geographical area of North East England (population 770 000). There was a fall in the rate of cerebral palsy among very low birthweight babies between 1964 and 1975 and also in the small group with dyskinetic cerebral palsy. The rate rose, however, among babies weighing more than 2.5 kg at birth in the second half of the study, in parallel with changes in perinatal mortality. The net effect is that the overall congenital cerebral palsy rate (mean 1.64 per 1000 livebirths) showed a gradual rise between 1968 and 1975. This conclusion is reinforced by evidence of a rise in incidence among the subgroup of patients with severe cerebral palsy (as defined by an interval measurement of handicap) during the same period. PMID:2936310

  14. Do oral steroids aid recovery in children with Bell's palsy?

    PubMed

    Ismail, Abdul Qader; Alake, Oluwaseyi; Kallappa, Chetana

    2014-10-01

    There is growing evidence that steroids are not beneficial for treatment of paediatric patients with Bell's palsy. To investigate, we conducted a retrospective longitudinal study examining notes of 100 children, over 12 years coded for facial nerve palsy. Of the 79 diagnosed with Bell's palsy, all recovered, and for 46 patients we had data on interval from onset of symptoms to resolution (median duration in treated group = 5 weeks, range = 39; median duration in untreated group = 6 weeks, range = 11; P = .86). From our results, we conclude that all children with Bell's palsy recovered, with or without steroid treatment, with no statistically significant difference in symptoms duration. Complications of unresolved Bell's palsy can have important long-term functional and psychosocial consequences. Therefore, we need further research on use of steroids in children with complete/severe cases; it would be a shame to omit treatment due to "absence of evidence" rather than "evidence of absence." PMID:24141272

  15. Sleep in children with cerebral palsy: a review.

    PubMed

    Simard-Tremblay, Elisabeth; Constantin, Evelyn; Gruber, Reut; Brouillette, Robert T; Shevell, Michael

    2011-10-01

    Children with neurodevelopmental disabilities, such as cerebral palsy, are considered to be a population at risk for the occurrence of sleep problems. Moreover, recent studies on children with cerebral palsy seem to indicate that this population is at higher risk for sleep disorders. The importance of the recognition and treatment of sleep problems in children with cerebral palsy cannot be overemphasized. It is well known that the consequences of sleep disorders in children are broad and affect both the child and family. This review article explores the types and possible risk factors associated with the development of sleep problems in children with cerebral palsy and the impact of this disorder on the child and family. In addition, a brief summary of current diagnostic and treatment modalities is provided. Finally, the characteristics, diagnostic techniques, and management of sleep-related breathing disorders in children with cerebral palsy are discussed. PMID:21670393

  16. The Effect of Long-Term Training Program on Balance in Children with Cerebral Palsy: Results of a Pilot Study for Individually Based Functional Exercises

    ERIC Educational Resources Information Center

    Uzun, Selda

    2013-01-01

    This study examines the effects of long-term training program on balance and center of pressure (COP) for four male children (13 years of age) with cerebral palsy (CP). These children were classified into one hemiplegic (level II), one diplegic (level II) and two quadriplegic children (levels III and II) using the Gross Motor Function…

  17. Entrapment in anti myelin-associated glycoprotein neuropathy.

    PubMed

    Faber, Catharina G; Notermans, Nicolette C; Wokke, John H J; Franssen, Hessel

    2009-04-01

    Anti-myelin associated glycoprotein (MAG) neuropathy is a chronic disorder in which IgM antibodies react with Schwann cell glycoproteins, including MAG and peripheral myelin protein 22 (PMP22). Nerve conduction studies show features of axon loss and predominantly distal slowing consistent with demyelination. Because a genetic loss of PMP22 function yields hereditary neuropathy with liability to pressure palsies (HNPP), loss of PMP22 function due to anti- MAG antibodies may result in increased sensitivity to entrapment. We investigated this by performing standardized electrophysiological studies in 16 patients with anti-MAG neuropathy and 16 disease controls with genetically confirmed HNPP. Disproportionate slowing relative to adjacent segments occurred in similar proportions of patients with anti-MAG neuropathy and HNPP, and was of the same magnitude in each group. Affected were the elbow, carpal tunnel and the wrist-hand segments of the median and ulnar nerves. However, in anti-MAG neuropathy as compared to HNPP, absolute values of distal motor latencies and conduction velocities outside entrapment sites were slower and amplitudes were lower. In conclusion, increased sensitivity for entrapment may occur in anti-MAG neuropathy and contribute to part of the nerve damage. PMID:19306083

  18. Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

    PubMed

    Potulska-Chromik, Anna; Ryniewicz, Barbara; Aragon-Gawinska, Karolina; Kabzinska, Dagmara; Seroka, Andrzej; Lipowska, Marta; Kaminska, Anna M; Kostera-Pruszczyk, Anna

    2016-03-01

    Childhood chronic inflammatory demyelinating polyneuropathy (CIDP) needs to be differentiated from hereditary neuropathy. We aimed to validate existing CIDP nerve conduction study (NCS) criteria in a group of children with demyelinating neuropathies of chronic or subacute onset. Retrospective analysis of clinical and NCS results in 18 children with CIDP, 7 with hereditary neuropathy with pressure palsy (HNPP), and 24 with Charcot-Marie-Tooth 1a (CMT1a). AAN and EFNS electrodiagnostic CIDP criteria were fulfilled in 17 of 18 CIDP, 3 of 7 HNPP, and 23 of 24 CMT1a patients. A distal compound muscle action potential (dCMAP) of >9 ms was observed in 14 of 18 CIDP patients but not in any patients with HNPP. Abnormal median/normal sural SNAP (AMNS) and a 10 m/s difference between conduction velocities (CV) of two corresponding nerves were not observed in any CMT1a patients. NCS in CMT1a, HNPP, and CIDP reflect demyelination. dCMAP duration, sensory AMNS, and a 10 m/s CV difference parameter are most useful in the differential diagnosis of pediatric CIDP. PMID:26663344

  19. Progressive supranuclear palsy: progression and survival.

    PubMed

    Arena, Julieta E; Weigand, Stephen D; Whitwell, Jennifer L; Hassan, Anhar; Eggers, Scott D; Höglinger, Günter U; Litvan, Irene; Josephs, Keith A

    2016-02-01

    Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder characterized by postural instability and falls, vertical supranuclear gaze palsy, parkinsonism with poor levodopa response, pseudobulbar palsy, and frontal release signs. The natural history of the disease has been previously described. However, the time frame of appearance of clinical milestones and how these symptoms may relate to survival in PSP are unknown. The primary objective was to determine the prevalence of symptoms at different stages of PSP and to estimate the time of appearance of clinical symptoms characteristic of the disease. Second, we determined the association between clinical symptoms and survival. We prospectively studied 35 PSP patients during assessments scheduled every 6 months for up to 2 years. We estimated symptoms prevalence and the association between symptoms and survival. The median age of onset was 65.9 years (IQR 60.6-70.0), and the median time from onset to first assessment was 3.0 years (IQR 2.4-3.9). The most commonly reported symptoms at baseline were: motor (100%) followed by cognitive/behavioral (89%), systemic and bulbar (80%), and sleep disturbances (60%). Slowness of movement, falls, neck stiffness and difficulty looking up/down had high prevalence from baseline, while balance and gait impairment were less common at baseline but increased in prevalence over time. The presence of sleep disturbances, and possibly hallucinations, was associated with increased death risk. Improved recognition of the clinical spectrum and milestones of PSP advances knowledge of the disease, helps earlier diagnosis, and allows prognostic predictions. PMID:26705121

  20. [Palsy of CVI caused by ecchordosis physaliphora].

    PubMed

    Stahl-Hoffmann, V D; Gräf, M; Cesnulis, E; Schuknecht, B; Lorenz, B

    2016-06-01

    We report a case of symptomatic ecchordosis physaliphora (EP) in a 34-year-old woman who presented with progressive diplopia due to palsy of the left sixth cranial nerve. Repeated magnetic resonance imaging (MRI) disclosed typical characteristics of a congenital EP lesion with compression of the left abducens nerve presumably because of a secondary herniation of the arachnoid mater. We performed an augmenting combined recess resect procedure on the left eye. No progression of the lesion was observed over a period of 5 years. For differential diagnostics an EP has to be distinguished from skull base tumors, such as chordoma and chondrosarcoma. PMID:26502168

  1. Evidence based management of Bell's palsy.

    PubMed

    McCaul, James A; Cascarini, Luke; Godden, Daryl; Coombes, Darryl; Brennan, Peter A; Kerawala, Cyrus J

    2014-05-01

    Bell's palsy (idiopathic facial paralysis) is caused by the acute onset of lower motor neurone weakness of the facial nerve with no detectable cause. With a lifetime risk of 1 in 60 and an annual incidence of 11-40/100,000 population, the condition resolves completely in around 71% of untreated cases. In the remainder facial nerve function will be impaired in the long term. We summarise current published articles regarding early management strategies to maximise recovery of facial nerve function and minimise long-term sequelae in the condition. PMID:24685475

  2. Abducens nerve palsy after schwannoma resection.

    PubMed

    Bobbio, Antonio; Hamelin-Canny, Emelyne; Roche, Nicolas; Taillia, Herve; Alifano, Marco

    2015-02-01

    Tumors of the posterior mediastinum are mostly neurogenic and could involve the intervertebral foramen and the medullary canal. We describe the case of a patient who underwent surgery for a nerve sheet tumor originating at the level of the right second neural root. Resection was associated with an incidental dural tear and cerebrospinal fluid leak that was promptly repaired. One week after surgery, horizontal diplopia occurred. A palsy of the left abducens nerve secondary to intracranial hypotension was diagnosed. We present the pathogenic cascade leading to this ocular complication after posterior mediastinal surgery. The surgical techniques to prevent this complication are discussed. PMID:25639411

  3. Isolated third nerve palsy: A rare presentation of high grade glioma.

    PubMed

    Singh, Deepak Kumar; Singh, Neha; Singh, Ragini

    2016-01-01

    High grade gliomas account for almost one-third of primary central nervous system neoplasm, mainly in adults with a mean age of 41 years. They usually present with symptoms of raised intracranial pressure such as headache, vomiting, and seizures. We report a case of 55-year-old male presenting with right side complete third nerve palsy. Magnetic resonance imaging revealed an intraaxial tumor of the right medial temporal lobe. The tumor was removed grossly, and the histological diagnosis was anaplastic astrocytoma (WHO grade 3). We discuss clinical presentation of this case along with pertinent literature. PMID:27057228

  4. Isolated third nerve palsy: A rare presentation of high grade glioma

    PubMed Central

    Singh, Deepak Kumar; Singh, Neha; Singh, Ragini

    2016-01-01

    High grade gliomas account for almost one-third of primary central nervous system neoplasm, mainly in adults with a mean age of 41 years. They usually present with symptoms of raised intracranial pressure such as headache, vomiting, and seizures. We report a case of 55-year-old male presenting with right side complete third nerve palsy. Magnetic resonance imaging revealed an intraaxial tumor of the right medial temporal lobe. The tumor was removed grossly, and the histological diagnosis was anaplastic astrocytoma (WHO grade 3). We discuss clinical presentation of this case along with pertinent literature. PMID:27057228

  5. Prognostication of Bell's palsy using transcranial magnetic stimulation.

    PubMed

    Rimpiläinen, I; Eskola, H; Laippala, P; Laranne, J; Karma, P

    1997-01-01

    Transcranial magnetic stimulation (TMS) provides a method to noninvasive excitation of the facial nerve in its intracranial segment close to the internal acoustic meatus. Thus, the site of facial nerve activation with TMS is proximal to or within the site of the lesion in Bell's palsy. To evaluate the prognostic capability of TMS in unilateral Bell's palsy we examined 137 patients with this method, and compared the results with electroneuronography (ENoG). Within 0-4 days from the onset of palsy, the patients with elicitable TMS responses recovered better than those in whom TMS responses were not elicitable. If TMS was performed 5-9 days or 10-28 days after the onset of palsy, it did not provide any prognostic information. Based on amplitude side-to-side differences, ENoG did not contribute prognostic information during the first 9 days from the onset of palsy. Later on, 10-28 days after the onset of palsy, ENoG showed an increased capability to discriminate the patients with poor prognosis. Thus, elicitable facial motor response with TMS predicts good prognosis of Bell's palsy at an early stage whereas poor response with ENoG predicts less favorable prognosis at a later stage. PMID:9288286

  6. The efficacy of botulinum neurotoxin A for the treatment of complete and partially recovered chronic sixth nerve palsy.

    PubMed

    Repka, M X; Lam, G C; Morrison, N A

    1994-01-01

    Esotropia from chronic sixth nerve palsy or paresis usually requires surgery. Chemodenervation of the antagonist medial rectus muscle, while popular for the treatment of acute sixth nerve palsies and pareses, has not been used extensively for chronic cases. In this study, 22 patients with sixth nerve palsies or partially recovered palsies of greater than 5 months duration were treated with chemodenervation. The etiologies of the sixth nerve palsies were trauma (n = 7), tumor (n = 4), infection/inflammation (n = 3), nerve compression from aneurysm or increased intracranial pressure (n = 4), congenital (n = 1), ischemia (n = 2), and idiopathic (n = 1). The mean preinjection deviation was 41 prism diopters. A total of 38 injections were administered (mean, 1.7 per patient). Each patient received an injection of 2.5 to 7.5 units (mean, 4.1) of botulinum neurotoxin A to the ipsilateral medial rectus muscle. Treatment success was assessed 6 months after the last injection. A course of chemodenervation significantly improved the alignment of 9 of the 22 patients (41%). The mean postinjection deviation was 8 delta. Seven patients (32%) had single binocular vision in primary position restored. These patients had a mean horizontal binocular field of 70 degrees (range, 40 degrees to 100 degrees). Thirteen patients (59%) had only modest improvement and required surgery. The data suggest that injection of botulinum neurotoxin A is a useful treatment for some patients with chronic sixth nerve weakness. A course of chemodenervation therapy compares less favorably with transposition surgery with concomitant neurotoxin injection for the treatment of these difficult problems. PMID:8014791

  7. Contralateral diaphragmatic palsy in acute stroke: an interesting observation.

    PubMed

    Kumar, Sudhir; Reddy, Rajesh; Prabhakar, Subhashini

    2009-01-01

    Diaphragmatic palsy in hemiparetic stroke is not well recognized. Further, its implications on stroke outcome have not been studied. Here, we report a patient with left-sided diaphragmatic palsy due to an acute right middle cerebral artery territory infarction. The diagnosis was suspected on finding an elevated dome of the diaphragm on the left side in a routine chest radiograph and was confirmed by finding decreased movements of the left hemidiaphragm on fluoroscopic examination. We hypothesize that this condition is probably under-recognized in clinical practice and its clinical importance not well known. The pathophysiological basis of diaphragmatic palsy in acute stroke and its possible clinical implications are discussed. PMID:19881177

  8. Neuralgic Amyotrophy Manifesting as Mimicking Posterior Interosseous Nerve Palsy.

    PubMed

    Yang, Jin Seo; Cho, Yong Jun; Kang, Suk Hyung; Choi, Eun Hi

    2015-11-01

    The upper trunk of the brachial plexus is the most common area affected by neuralgic amyotrophy (NA), and paresis of the shoulder girdle muscle is the most prevalent manifestation. Posterior interosseous nerve palsy is a rare presentation in patients with NA. It results in dropped finger on the affected side and may be misdiagnosed as entrapment syndrome or compressive neuropathy. We report an unusual case of NA manifested as PIN palsy and suggest that knowledge of clinical NA phenotypes is crucial for early diagnosis of peripheral nerve palsies. PMID:26713154

  9. [Facial palsy: diagnosis and management by primary care physicians].

    PubMed

    Alvarez, V; Dussoix, P; Gaspoz, J-M

    2009-01-28

    The incidence of facial palsy is about 50/100000/year, i.e. 210 cases/year in Geneva. Clinicians can be puzzled by it, because it encompasses aetiologies with very diverse prognoses. Most patients suffer from Bell palsy that evolves favourably. Some, however, suffer from diseases such as meningitis, HIV infection, Lyme's disease, CVA, that require fast identification because of their severity and of the need for specific treatments. This article proposes an algorithm for pragmatic and evidence-based management of facial palsy. PMID:19267054

  10. Growth hormone deficiency and cerebral palsy

    PubMed Central

    Devesa, Jesús; Casteleiro, Nerea; Rodicio, Cristina; López, Natalia; Reimunde, Pedro

    2010-01-01

    Cerebral palsy (CP) is a catastrophic acquired disease, occurring during development of the fetal or infant brain. It mainly affects the motor control centres of the developing brain, but can also affect cognitive functions, and is usually accompanied by a cohort of symptoms including lack of communication, epilepsy, and alterations in behavior. Most children with cerebral palsy exhibit a short stature, progressively declining from birth to puberty. We tested here whether this lack of normal growth might be due to an impaired or deficient growth hormone (GH) secretion. Our study sample comprised 46 CP children, of which 28 were male and 18 were female, aged between 3 and 11 years. Data obtained show that 70% of these children lack normal GH secretion. We conclude that GH replacement therapy should be implemented early for CP children, not only to allow them to achieve a normal height, but also because of the known neurotrophic effects of the hormone, perhaps allowing for the correction of some of the common disabilities experienced by CP children. PMID:20856687

  11. Birthweight specific trends in cerebral palsy.

    PubMed Central

    Pharoah, P O; Cooke, T; Cooke, R W; Rosenbloom, L

    1990-01-01

    A register of infants with cerebral palsy born to mothers resident in the Mersey region from 1967-84 has been maintained using various sources of information. A total of 1056 patients are registered of whom 331 (31%) have hemiplegia or mixed hemiplegia, 236 (22%) have diplegias or mixed diplegia, and 369 (35%) have quadriplegia or mixed quadriplegia. The remainder have dyskinetic or dystonic forms except for seven, who are unclassified. There has been no significant change in the prevalence of cerebral palsy among infants of normal birth weight (greater than 2500 g). Among low birthweight infants (less than or equal to 2500 g) there has been a significant increase in prevalence of all the main clinical types. This increase started later among the very low birthweight infants (less than or equal to 1500 g) than among those weighing 1501-2500 g. These changes in prevalence could be the result of either improved survival of prenatally impaired infants because of improvements in medical care, or a reflection of failure to maintain optimal conditions at or around the time of birth. PMID:2378516

  12. Help Desk Answers: Do corticosteroids relieve Bell's palsy?

    PubMed

    Soch, Kathy; Purtle, David; Ara, Mary; Dabbs, Kimberly

    2016-03-01

    Yes, but not severe disease. Corticosteroids likely improve facial motor function in adults with mild to moderate Bell's palsy. Corticosteroids are probably ineffective in treating cosmetically disabling or severe disease. PMID:27158696

  13. Pseudoradial Nerve Palsy Caused by Acute Ischemic Stroke.

    PubMed

    Tahir, Hassan; Daruwalla, Vistasp; Meisel, Jeremy; Kodsi, Samir E

    2016-01-01

    Pseudoperipheral palsy has been used to characterize isolated monoparesis secondary to stroke. Isolated hand nerve palsy is a rare presentation for acute cerebral stroke. Our patient presented with clinical features of typical peripheral radial nerve palsy and a normal computed tomography scan of the head, which, without a detailed history and neurological examination, could have been easily misdiagnosed as a peripheral nerve lesion deferring further investigation for a stroke. We stress the importance of including cerebral infarction as a critical differential diagnosis in patients presenting with sensory-motor deficit in an isolated peripheral nerve pattern. A good history and physical exam can differentiate stroke from peripheral neuropathy as the cause of radial nerve palsy. PMID:27493976

  14. Pseudoradial Nerve Palsy Caused by Acute Ischemic Stroke

    PubMed Central

    Tahir, Hassan; Daruwalla, Vistasp; Meisel, Jeremy; Kodsi, Samir E.

    2016-01-01

    Pseudoperipheral palsy has been used to characterize isolated monoparesis secondary to stroke. Isolated hand nerve palsy is a rare presentation for acute cerebral stroke. Our patient presented with clinical features of typical peripheral radial nerve palsy and a normal computed tomography scan of the head, which, without a detailed history and neurological examination, could have been easily misdiagnosed as a peripheral nerve lesion deferring further investigation for a stroke. We stress the importance of including cerebral infarction as a critical differential diagnosis in patients presenting with sensory-motor deficit in an isolated peripheral nerve pattern. A good history and physical exam can differentiate stroke from peripheral neuropathy as the cause of radial nerve palsy. PMID:27493976

  15. Facial nerve palsy, Kawasaki disease, and coronary artery aneurysm.

    PubMed

    Stowe, Robert C

    2015-09-01

    Kawasaki disease is rarely complicated by cranial nerve VII palsy. This report describes a 15-month-old female presenting with 3 days of fever, irritability, and rash who was subsequently diagnosed with Kawasaki disease and treated with intravenous immunoglobulin. She was found to have mild coronary artery ectasia and developed an acute, transient, left-sided facial palsy on the sixth day of illness. Repeat echocardiography demonstrated worsening aneurysm and intravenous methylprednisolone was added to her treatment regimen. At 1 and 3 months post-discharge, echocardiography demonstrated resolution of her coronary aneurysm. This case makes 41 total described in the literature. Patients tend to be under 12-months-old and there is a higher association with coronary artery aneurysm in such patients compared to those without facial palsy who never even received treatment. Kawasaki disease associated with facial palsy may indicate increased inflammatory burden and patients may require additional anti-inflammatory agents and more vigilant echocardiography. PMID:26101056

  16. Speech Performance, Dysphagia and Oral Reflexes in Cerebral Palsy.

    ERIC Educational Resources Information Center

    Love, Russell J.; And Others

    1980-01-01

    The adequacy of biting, sucking, swallowing, and chewing as well as the presence or absence of nine infantile oral reflexes were assessed in 60 cerebral palsied individuals (ages 3 to 23). (Author/PHR)

  17. Management of Spasticity in Children with Cerebral Palsy

    PubMed Central

    Shamsoddini, Alireza; Amirsalari, Susan; Hollisaz, Mohammad-Taghi; Rahimnia, Alireza; Khatibi-Aghda, Amideddin

    2014-01-01

    Cerebral palsy is the most common cause of spasticity and physical disability in children and spasticity is one of the commonest problems in those with neurological disease. The management of spasticity in children with cerebral palsy requires a multidisciplinary effort and should be started as early as possible. There are a number of treatments available for the management of spasticity. This article reviews the variety of options available for the clinical management of spasticity. PMID:25755853

  18. Isolated sixth nerve palsy after intravitreal ranibizumab injection.

    PubMed

    Caglar, Cagatay; Kocamis, Sücattin Ilker; Durmus, Mustafa

    2016-09-01

    After intravitreal ranibizumab injection for diabetic macular edema (DME) in a 55-year-old man, the patient was admitted to our ophthalmology clinic with the complaint of diplopia. Given the results of the patient's history, physical exam, and negative magnetic resonance imaging (MRI), we believed that the patient had a sixth nerve palsy related to ranibizumab injection. To the best of our knowledge, this is the first case with isolated abducens palsy after ranibizumab injection. PMID:26340018

  19. Stability and Harmony of Gait in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Iosa, Marco; Marro, Tiziana; Paolucci, Stefano; Morelli, Daniela

    2012-01-01

    The aim of this study was to quantitatively assess the stability and harmony of gait in children with cerebral palsy. Seventeen children with spastic hemiplegia due to cerebral palsy (5.0 [plus or minus] 2.3 years old) who were able to walk autonomously and seventeen age-matched children with typical development (5.7 [plus or minus] 2.5 years old,…

  20. Limb preference in children with obstetric brachial plexus palsy.

    PubMed

    Yang, Lynda J-S; Anand, Praveen; Birch, Rolfe

    2005-07-01

    Brachial plexus palsy affects children differently than adults. In children with obstetric brachial plexus palsy, motor development must depend on nervous system adaptation. Previous studies report sensory plasticity in these children. This noninvasive study provides support for neural plasticity (the general ability of the brain to reorganize neural pathways based on new experiences) in children with obstetric brachial plexus palsy by considering upper limb preference. As in the general population, we expect that 90% of children would prefer their right upper limb. However, only 17% of children affected by right obstetric brachial plexus palsy prefer the right upper limb for overall movement; children with left obstetric brachial plexus palsy did not significantly differ from the general population in upper limb preference. This study also provides the first evidence of a significant correlation between actual task performance and select obstetric brachial plexus palsy outcome measurement systems, thereby justifying the routine use of these outcome measurement systems as a reflection of the practical utility of the affected limb to the patient. PMID:15876521

  1. Evaluation of postural stability in children with hemiplegic cerebral palsy

    PubMed Central

    Kenis-Coskun, Ozge; Giray, Esra; Eren, Beyhan; Ozkok, Ozlem; Karadag-Saygi, Evrim

    2016-01-01

    [Purpose] Postural stability is the ability of to maintain the position of the body within the support area. This function is affected in cerebral palsy. The aim of the present study was to compare static and dynamic postural stability between children with hemiplegic cerebral palsy and healthy controls. [Subjects and Methods] Thirty-seven children between the ages of 5 and 14 diagnosed with hemiplegic cerebral palsy (19 right, 18 left) and 23 healthy gender- and age-matched controls were included in the study. Postural stability was evaluated in both of the groups using a Neurocom Balance. Sway velocity was measured both with the eyes open and closed. Sit to stand and turning abilities were also assessed. [Results] The sway velocities with the eyes open and closed were significantly different between the groups. The weight transfer time in the Sit to Stand test was also significantly slower in children with cerebral palsy. Children with cerebral palsy also showed slower turning times and greater sway velocities during the Step and Quick Turn test on a force plate compared with their healthy counterparts. [Conclusion] Both static and dynamic postural stability parameters are affected in hemiplegic cerebral palsy. Further research is needed to define rehabilitation interventions to improve these parameters in patients. PMID:27313338

  2. Functional impairment in progressive supranuclear palsy

    PubMed Central

    Gerstenecker, Adam; Litvan, Irene

    2013-01-01

    Objective: The current study sought to describe the functional profiles of patients with early-stage progressive supranuclear palsy (PSP) in a large prospective, multisite study. Methods: Using data from 202 individuals meeting criteria for clinically definite or probable PSP, 3 functional scales were examined. Functional scores were then compared to measures of motor, cognition, and psychiatric symptoms. Results: Functional disability was high in early-stage PSP, with 100% of patients having less than perfect scores on all functional scales. Whereas functional scores tended not to be related to cognition or psychiatric symptoms, they were strongly related to motoric ratings. Conclusions: Both clinically and in research settings, the definition of functional intactness/impairment has important implications. Future studies should examine if functional impairment is this high in PSP or if new scales of functional abilities need to be developed for this condition. PMID:23303854

  3. Cerebral palsy: the whys and hows.

    PubMed

    Fairhurst, Charlie

    2012-08-01

    The descriptive term of cerebral palsy encompasses the largest group of childhood movement disorders. Severity and pattern of clinical involvement varies widely dependent on the area of the central nervous system compromised. A multidisciplinary team approach is vital for all the aspects of management to improve function and minimise disability. From a medical viewpoint, there are two pronged approaches. First a focus on developmental and clinical comorbidities such as communication, behaviour, epilepsy, feeding problems, gastro-oesophageal reflux and infections; and second on specifics of muscle tone, motor control and posture. With regards to the latter, there is an increasing number of available treatments including oral antispasticity and antidystonic medications, injectable botulinum toxin, multilevel orthopaedic and neurosurgical options and a variety of complementary and alternative therapies. PMID:22868578

  4. Complementary and alternative therapies for cerebral palsy.

    PubMed

    Liptak, Gregory S

    2005-01-01

    The optimal practice of medicine includes integrating individual clinical expertise with the best available clinical evidence from systematic research. This article reviews nine treatment modalities used for children who have cerebral palsy (CP), including hyperbaric oxygen, the Adeli Suit, patterning, electrical stimulation, conductive education, equine-assisted therapy, craniosacral therapy, Feldenkrais therapy, and acupuncture. Unfortunately, these modalities have different degrees of published evidence to support or refute their effectiveness. Uncontrolled and controlled trials of hippotherapy have shown beneficial effects on body structures and functioning. Studies of acupuncture are promising, but more studies are required before specific recommendations can be made. Most studies of patterning have been negative and its use cannot be recommended. However, for the other interventions, such as hyperbaric oxygen, more evidence is required before recommendations can be made. The individual with CP and his or her family have a right to full disclosure of all possible treatment options and whatever knowledge currently is available regarding these therapies. PMID:15977320

  5. [Acute sciatic neuropathy--"post-Saturday palsy"].

    PubMed

    Manigoda, Miodrag; Dujmović-Basuroski, Irena; Trikić, Rajko; Drulović, Jelena

    2005-01-01

    This is a case report of 25-year old, unemployed male, admitted to hospital due to acute onset of the left foot drop, subsequent walking difficulty and numbness of the left calf and foot. Symptoms began after prolonged sleep with previous heroin abuse by sniffing. During neurological examination, mild weakness of knee flexors, moderate weakness of plantar flexors and paralysis of foot dorsiflexors, together with hypesthesia of the left calf, foot and fingers, predominantly in the innervation area of common peroneal nerve on the same side, were observed. The electrophysiologic examination revealed predominant involvement of peroneal division within the sciatic nerve, together with recorded conduction block indicating the compression as possible mechanism of nerve injury. The patient was administered corticosteroid therapy during two months, what resulted in almost complete recovery. The peculiarity of this case report is in the presence of the sciatic nerve "Saturday night palsy" with possible effect of former heroin abuse. PMID:16053177

  6. Clinical Approach to Progressive Supranuclear Palsy

    PubMed Central

    Ling, Helen

    2016-01-01

    Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson’s syndrome (RS), different clinical phenotypic presentations have been linked with this four-repeat tauopathy. The clinical heterogeneity is associated with variability of regional distribution and severity of abnormal tau accumulation and neuronal loss. In PSP subtypes, the presence of certain clinical pointers may be useful for antemortem prediction of the underlying PSP-tau pathology. Midbrain atrophy on conventional MRI correlates with the clinical phenotype of RS but is not predictive of PSP pathology. Cerebrospinal fluid biomarkers and tau ligand positron emission tomography are promising biomarkers of PSP. A multidisciplinary approach to meet the patients’ complex needs is the current core treatment strategy for this devastating disorder. PMID:26828211

  7. [Ataxic cerebral palsy and brain imaging].

    PubMed

    Imamura, S; Tachi, N; Tsuzuki, A; Sasaki, K; Hirano, S; Tanabe, C; Sakuma, K

    1992-09-01

    Five cases diagnosed as having ataxic cerebral palsy were presented with their brain imaging. Case 1, a 3-year-old-girl had been floppy since 7 months of age and began ataxic walk with spastic legs from 18 months of age. MRI revealed generalized atrophy of cerebellum (especially in anterior superior part) and slight atrophy of pons. Her mother also had ataxia with spastic legs of early onset. She and her mother were thought to have an early-onset inherited non-progressive cerebellar ataxia syndrome. Case 2, a 8-year-old-girl had ataxic walk since 17 months of age. MRI revealed cerebellar atrophy especially in anterior superior part. Case 3, a 10-year-old boy was floppy since 4 months of age and suspected as ataxic at 4 years of age. He could walk only with cruches. He had dwarfism and cataracts since 4 years of age. CT and MRI revealed generalized spino-ponto-cerebellar atrophy. Final diagnosis was Marinesco-Sjörgren syndrome. Case 4, a 10-year-old girl had opisthotonus and floppiness since 4 months of age. She could walk only with cruches. CT and MRI revealed generalized spino-ponto-cerebellar atrophy. Case 5, a 8-year-old boy showed head nodding and nystagmus since 4 months of age. He started ataxic gait at 8 years of age. He could vocalize only single sound for speech. MRI revealed cranium bifida and agenesis of anterior medullar velum. Ataxic cerebral palsy is the term often used to describe very different conditions, the clinical picture starts as hypotonia and changes into the ataxic symptoms in a few years.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1389327

  8. A case of atypical progressive supranuclear palsy

    PubMed Central

    Spaccavento, Simona; Del Prete, Marina; Craca, Angela; Loverre, Anna

    2014-01-01

    Background Progressive supranuclear palsy (PSP) is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS) and aphasia. Aim We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to various pharmacological treatments. Methods A 72-year-old right-handed male, with 17 years education, who first presented with aphasia, AOS, depression, apathy, and postural instability at 69 years; a complete neuropsychological evaluation, tapping the different cognitive domains, was performed. Results Testing revealed a moderate global cognitive deficit (Mini-Mental State Examination test score =20), low memory test scores (story recall, Rey’s 15-word Immediate and Delayed Recall), and poor phonemic and semantic fluency. The patient’s language was characterized by AOS, with slow speech rate, prolonged intervals between syllables and words, decreased articulatory accuracy, sound distortions, and anomia. Behavioral changes, such as depression, anxiety, apathy, and irritability, were reported. The neurological examination revealed supranuclear vertical gaze palsy, poor face miming, and a mild balance deficit. Magnetic resonance imaging showed only widespread cortical atrophy. Single photon emission computed tomography demonstrated left > right frontotemporal cortical abnormalities. After 6 months, a further neuropsychological assessment showed a progression in cognitive deficits, with additional attention deficits. The patient reported frequent falls, but the neurological deficits remained unchanged. Neuroimaging tests showed the same brain involvement. Conclusion Our case highlights the heterogeneity of the clinical features in this syndrome, demonstrating that atypical PSP can present as AOS and aphasia, without the classical features or involvement of the subcortical gray

  9. Excess Pre-Pregnancy Weight May Slightly Raise Baby's Cerebral Palsy Risk

    MedlinePlus

    ... Excess Pre-Pregnancy Weight May Slightly Raise Baby's Cerebral Palsy Risk But, study found overall odds remain quite ... slight increased risk of having a baby with cerebral palsy, a new study suggests. After reviewing data from ...

  10. Cerebral Palsy. Fact Sheet = La Paralisis Cerebral. Hojas Informativas Sobre Discapacidades.

    ERIC Educational Resources Information Center

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet on cerebral palsy is written in both English and Spanish. First, it provides a definition of cerebral palsy and considers various causes (e.g., an insufficient amount of oxygen reaching the fetal or newborn brain). The fact sheet then offers incidence figures and explains characteristics of the three main types of cerebral palsy:…

  11. Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia.

    PubMed

    Nagao, Shigeto; Yokota, Osamu; Nanba, Reiko; Takata, Hiroshi; Haraguchi, Takashi; Ishizu, Hideki; Ikeda, Chikako; Takeda, Naoya; Oshima, Etsuko; Sakane, Katsuaki; Terada, Seishi; Ihara, Yuetsu; Uchitomi, Yosuke

    2012-12-15

    We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis. PMID:23026537

  12. Familial risk of cerebral palsy: population based cohort study

    PubMed Central

    Wilcox, Allen J; Lie, Rolv T; Moster, Dag

    2014-01-01

    Objective To investigate risks of recurrence of cerebral palsy in family members with various degrees of relatedness to elucidate patterns of hereditability. Design Population based cohort study. Setting Data from the Medical Birth Registry of Norway, linked to the Norwegian social insurance scheme to identify cases of cerebral palsy and to databases of Statistics Norway to identify relatives. Participants 2 036 741 Norwegians born during 1967-2002, 3649 of whom had a diagnosis of cerebral palsy; 22 558 pairs of twins, 1 851 144 pairs of first degree relatives, 1 699 856 pairs of second degree relatives, and 5 165 968 pairs of third degree relatives were identified. Main outcome measure Cerebral palsy. Results If one twin had cerebral palsy, the relative risk of recurrence of cerebral palsy was 15.6 (95% confidence interval 9.8 to 25) in the other twin. In families with an affected singleton child, risk was increased 9.2 (6.4 to 13)-fold in a subsequent full sibling and 3.0 (1.1 to 8.6)-fold in a half sibling. Affected parents were also at increased risk of having an affected child (6.5 (1.6 to 26)-fold). No evidence was found of differential transmission through mothers or fathers, although the study had limited power to detect such differences. For people with an affected first cousin, only weak evidence existed for an increased risk (1.5 (0.9 to 2.7)-fold). Risks in siblings or cousins were independent of sex of the index case. After exclusion of preterm births (an important risk factor for cerebral palsy), familial risks remained and were often stronger. Conclusions People born into families in which someone already has cerebral palsy are themselves at elevated risk, depending on their degree of relatedness. Elevated risk may extend even to third degree relatives (first cousins). The patterns of risk suggest multifactorial inheritance, in which multiple genes interact with each other and with environmental factors. These data offer additional

  13. Gait training facilitates central drive to ankle dorsiflexors in children with cerebral palsy

    PubMed Central

    Petersen, Tue Hvass; Farmer, Simon Francis; Nielsen, Jens Bo

    2015-01-01

    Foot drop and toe walking are frequent concerns in children with cerebral palsy. The main underlying cause of these problems is early damage and lack of maturation of the corticospinal tract. In the present study we investigated whether 4 weeks of daily treadmill training with an incline may facilitate corticospinal transmission and improve the control of the ankle joint in children with cerebral palsy. Sixteen children with cerebral palsy (Gross Motor Classification System I:6, II:6, III:4) aged 5–14 years old, were recruited for the study. Evaluation of gait ability and intramuscular coherence was made twice before and twice after training with an interval of 1 month. Gait kinematics were recorded by 3D video analysis during treadmill walking with a velocity chosen by the child at the first evaluation. Foot pressure was measured by force sensitive foot soles during treadmill and over ground walking. EMG-EMG coherence was calculated from two separate electrode recordings placed over the tibialis anterior muscle. Training involved 30 min of walking daily on a treadmill with an incline for 30 days. Gait training was accompanied by significant increases in gait speed, incline on the treadmill, the maximal voluntary dorsiflexion torque, the number and amplitude of toe lifts late in the swing phase during gait and the weight exerted on the heel during the early stance phase of the gait cycle. EMG-EMG coherence in the beta and gamma frequency bands recorded from tibialis anterior muscle increased significantly when compared to coherence before training. The largest changes in coherence with training were observed for children <10 years of age. Importantly, in contrast to training-induced EMG increases, the increase in coherence was maintained at the follow-up measurement 1 month after training. Changes in the strength of coherence in the beta and gamma band were positively correlated with improvements in the subjects’ ability to lift the toes in the swing phase

  14. Frontal deficits differentiate progressive supranuclear palsy from Parkinson's disease.

    PubMed

    Lee, Young-Eun C; Williams, David R; Anderson, Jacqueline F I

    2016-03-01

    The clinical differentiation of progressive supranuclear palsy from Parkinson's disease can be challenging, due to overlapping clinical features and a lack of diagnostic markers. Abnormalities in cognitive function form part of the clinical spectrums of these diseases and distinctive cognitive profiles may be helpful in differentiating these diseases in the diagnostic period. A comprehensive neuropsychological test battery was administered to 12 patients with clinically diagnosed progressive supranuclear palsy and 12 patients with Parkinson's disease matched for age and disease duration. Effect size (Cohen's d) was calculated for cognitive tests that were significantly different between groups. Patients with progressive supranuclear palsy performed significantly worse than those with Parkinson's disease on measures of processing speed, verbal fluency, planning, verbal abstract reasoning, verbal memory, and made more perseverative responses on a set shifting task. Measures of executive function, manual dexterity and processing speed were most diagnostically useful (Cohen's d > 2.0) in differentiating between progressive supranuclear palsy and Parkinson's disease. These findings suggest that more severe and prominent 'frontal' cognitive deficits in patients with progressive parkinsonism would be helpful in predicting progressive supranuclear palsy rather than Parkinson's disease and these findings may contribute to the development of diagnostic criteria. PMID:25223526

  15. The Role of Information Systems to Manage Cerebral Palsy

    PubMed Central

    AJAMI, Sima; MAGHSOUDLORAD, Ali Akbar

    2016-01-01

    Objective In healthcare system, it is necessary to have exact and accurate information in order to address health care needs and requirements of society members as well as expectations of policy makers, planners and decision makers. The aim of this narrative review article was to explain the role of information systems in cerebral palsy management and identify the advantages and barriers to the development of cerebral palsy registry system. Data were collected using databases such as of Science Direct, PubMed, Proquest, Springer, and SID (Scientific Information Database). Overall, 65 sources were selected. One of the biggest challenges for children with physical and motor disabilities in rehabilitation center is access to a system, which provides a comprehensive data set reflecting all information on a patient’s care. Thus, data and information management in children with physical and motor disability such as cerebral palsy facilitates access to data and cerebral palsy data comparison as well as the monitoring incidence rate of cerebral palsy, enhancing health care quality; however, there are always numerous barriers to establish the system. One of the ways to overcome these problems is the establishment of a standard framework of minimum data sets and exact definition of its data components. Reliable standards in the use of applications as well as user-friendly software will ensure patients’ data extraction and registration. PMID:27247578

  16. Dynamic touch is affected in children with cerebral palsy.

    PubMed

    Ocarino, Juliana M; Fonseca, Sergio T; Silva, Paula L P; Gonçalves, Gabriela G P; Souza, Thales R; Mancini, Marisa C

    2014-02-01

    Children with developmental disorders such as cerebral palsy have limited opportunities for effortful interactions with objects and tools. The goal of the study was to investigate whether children with cerebral palsy have deficits in their ability to perceive object length by dynamic touch when compared to typically developing children. Fourteen children with typical development and 12 children with cerebral palsy were asked to report the length of hand-held rods after wielding them out of sight. Multilevel regression models indicated that I1 (maximum principal moment of inertia) was a significant predictor of perceived length - LP (p<.0001). The effect of I1 on LP was significantly different among children (p=.001) and the presence of cerebral palsy (group factor) partially explained such variance (p=.002). In addition, accuracy and reliability of the length judgments made by children with cerebral palsy were significantly lower than the typically developing children (p<.05). Theoretical and clinical implications of these results were identified and discussed. PMID:24054355

  17. The Role of Information Systems to Manage Cerebral Palsy.

    PubMed

    Ajami, Sima; Maghsoudlorad, Ali Akbar

    2016-01-01

    Objective In healthcare system, it is necessary to have exact and accurate information in order to address health care needs and requirements of society members as well as expectations of policy makers, planners and decision makers. The aim of this narrative review article was to explain the role of information systems in cerebral palsy management and identify the advantages and barriers to the development of cerebral palsy registry system. Data were collected using databases such as of Science Direct, PubMed, Proquest, Springer, and SID (Scientific Information Database). Overall, 65 sources were selected. One of the biggest challenges for children with physical and motor disabilities in rehabilitation center is access to a system, which provides a comprehensive data set reflecting all information on a patient's care. Thus, data and information management in children with physical and motor disability such as cerebral palsy facilitates access to data and cerebral palsy data comparison as well as the monitoring incidence rate of cerebral palsy, enhancing health care quality; however, there are always numerous barriers to establish the system. One of the ways to overcome these problems is the establishment of a standard framework of minimum data sets and exact definition of its data components. Reliable standards in the use of applications as well as user-friendly software will ensure patients' data extraction and registration. PMID:27247578

  18. Whole body vibration and cerebral palsy: a systematic review

    PubMed Central

    Duquette, Sean A.; Guiliano, Anthony M.; Starmer, David J.

    2015-01-01

    Purpose: The goal of this review is to evaluate the effects of whole body vibration on outcomes in patients with cerebral palsy. The findings in this review may help clinicians make evidence informed decisions on the use of whole body vibration for cerebral palsy. Methods: A systematic search was conducted on April 29, 2014.The following search terms were used to search of several databases: (whole body vibration OR whole-body vibration OR whole body-vibration OR WBV) AND (cerebral palsy). Articles that met the inclusion criteria were assessed using the Scottish intercollegiate guidelines network (SIGN) rating system to assess the methodology and bias of the articles for randomized control trials. Results: The search produced 25 articles, of which 12 duplicates were identified and removed. Another seven articles were not considered since they did not fit the inclusion criteria, leaving a total of five studies for review. Four of the articles analyzed the effects of WBV in children while the other study focused on adults with cerebral palsy. There was one low quality article, four acceptable quality articles and one high quality article when assessed using the SIGN criteria. Conclusions: It appears that whole body vibration has the potential to provide symptomatic relief for patients with cerebral palsy. Whole body vibration may improve spasticity, muscle strength and coordination. There is a lack of research to conclusively determine whether it does alter bone mineral density. PMID:26500358

  19. Laser Phototherapy As Modality of Clinical Treatment in Bell's Palsy

    NASA Astrophysics Data System (ADS)

    Marques, A. M. C.; Soares, L. G. P.; Marques, R. C.; Pinheiro, A. L. B.; Dent, M.

    2011-08-01

    Bell's palsy is defined as a peripheral facial nerve palsy, idiophatic, and sudden onset and is considered the most common cause of this pathology. It is caused by damage to cranial nerves VII, resulting in complete or partial paralysis of the facial mimic. May be associated with taste disturbances, salivation, tearing and hyperacusis. It is diagnosed after ruling out all possible etiologies, because its cause is not fully understood.Some researches shows that herpes virus may cause this type of palsy due to reactivation of the virus or by imunnomediated post-viral nerve demielinization. Physical therapy, corticosteroids and antiviral therapy have become the most widely accepted treatments for Bell's palsy. Therapy with low-level laser (LLLT) may induce the metabolism of injured nerve tissue for the production of proteins associated with its growth and to improve nerve regeneration. The success of the treatment of Bell's palsy by using laser phototherapy isolated or in association with other therapeutic approach has been reported on the literature. In most cases, the recovery occurs without uneventfully (complications), the acute illness is not associated with serious disorders. We will present a clinical approach for treating this condition.

  20. Recurrent Isolated Oculomotor Nerve Palsy after Radiation of a Mesencephalic Metastasis. Case Report and Mini Review

    PubMed Central

    Grabau, Olga; Leonhardi, Jochen; Reimers, Carl D.

    2014-01-01

    Introduction: Recurrent oculomotor nerve palsies are extremely rare clinical conditions. Case report: Here, we report on a unique case of a short-lasting recurrent unilateral incomplete external and complete internal oculomotor nerve palsy. The episodic palsies were probably caused by an ipsilateral mesencephalic metastasis of a breast carcinoma and occurred after successful brain radiation therapy. Discussion: While the pathogenic mechanism remains unclear, the recurrent sudden onset and disappearance of the palsies and their decreasing frequency after antiepileptic treatment suggest the occurrence of epilepsy-like brainstem seizures. A review of case reports of spontaneous reversible oculomotor nerve palsies is presented. PMID:25104947

  1. A case of traumatic bilateral abducens and unilateral hypoglossal nerve palsy

    PubMed Central

    Selçuk, Ferda; Mut, Senem E.

    2013-01-01

    Patient: Female, 47 Final Diagnosis: Traumatic bilateral abducens • unilateral hypoglossal nerve palsy Symptoms: Diplopia Medication: — Clinical Procedure: — Specialty: Neurology Objective: Rare disease Background: Incidence of unilateral abducens palsy from head trauma has been reported to be as high as 1% to 2.7%, but bilateral abducens nerve palsy is extremely rare. Case Report: We present a case in which bilateral abducens nerve and unilateral hypoglossal nerve palsy developed with a high Glasgow Coma Score (GCS) 3 hours after head trauma due to a motor vehicle crash. Conclusions: This case highlights the occurrence and management of posttraumatic bilateral sixth nerve palsy. PMID:23847710

  2. Gait stability in children with cerebral palsy

    PubMed Central

    Bruijn, Sjoerd M.; Millard, Matthew; van Gestel, Leen; Meyns, Pieter; Jonkers, Ilse; Desloovere, Kaat

    2013-01-01

    Children with unilateral Cerebral Palsy (CP) have several gait impairments, amongst which impaired gait stability may be one. We tested whether a newly developed stability measure (the foot placement estimator, FPE) which does not require long data series, can be used to asses gait stability in typically developing (TD) children as well as children with CP. In doing so, we tested the FPE’s sensitivity to the assumptions needed to calculate this measure, as well as the ability of the FPE to detect differences in stability between children with CP and TD children, and differences in walking speed. Participants were asked to walk at two different speeds, while gait kinematics were recorded. From these data, the FPE, as well as the error that violations of assumptions of the FPE could have caused were calculated. The results showed that children with CP walked with marked instabilities in anterior-posterior and mediolateral directions. Furthermore, errors caused by violations of assumptions in calculation of FPE were only small (~1.5 cm), while effects of walking speed (~20 cm per m/s increase in walking speed) and group (~5cm) were much larger. These results suggest that the FPE may be used to quantify gait stability in TD children and children with CP. PMID:23500163

  3. Lip segmentation and tracking for facial palsy

    NASA Astrophysics Data System (ADS)

    Park, MinJae; Seo, JongMo; Park, KwangSuk

    2006-02-01

    We developed the asymmetry analyzing system for facial palsy patient's rehabilitation progress study. Using PC standard imaging device, captured 640*480 RGB image is converted into HSV space. A Lip-shape mask is extracted by thresholding. By taking 5 regions consisted in one region on lip and four regions on face skin, reasonable thresholds are determined by Fuzzy C-Means clustering. The extreme points on the lip shape mask are extracted to get the seeds for tracking. Segmented seed points are tracking by Iterative Lucas-Kanade tracking method in pyramids at 30 fps and recording simultaneously. To reduce the disk writing load on computer, we use asynchronous mode file writing, which is going to transfer to and review by clinician. Tracking shows quite reliable results, but sometimes the tracked points are following along the lip line because of the similar contrasts. Therefore, the first strategy to improve the reliability of tracking is using the high contrast points, such as left and right maximal point of lip shape. The second is clustering some points near the maximal points and eliminating outlying tracking points. The third is rechecking the lip shape using lip segmentation when the operator confirms that subject's maximal lip moving. Left and right tracking points are compared in forms of trajectory plot.

  4. Legionnaires' Disease with Facial Nerve Palsy

    PubMed Central

    Basani, Shailesh R.; Ahmed, Salwa Mohamed; Habte-Gabr, Eyassu

    2011-01-01

    Legionnaires' disease is primarily a pneumonic process caused by Legionella pneumophilia, a gram-negative aerobic bacillus but also has multiple system involvement. The most common manifestation is encephalopathy suggesting a generalized brain dysfunction but focal neurological manifestations have been reported. We report a patient with Legionella pneumonia associated with cerebellar dysfunction and unilateral facial nerve weakness. 51-year-old previously healthy male presented with shortness of breath, cough, slurred speech, and unsteadiness on feet associated with malaise, fevers and myalgias. Patient's family reported facial asymmetry for 2 days. Patient had no significant medical history and was not on any medication. He denied smoking, alcohol or illicit drug use. Chest X-ray showed bilateral lower lobe infiltrates. Urinary antigen assay for Legionella pneumophilia serogroup 1 was positive. Patient was started on intravenous moxifloxacin. On day 5 the patient was discharged home and continued oral moxifloxacin for two weeks. After the two weeks, his respiratory symptoms, gait ataxia and dysarthria resolved. We report the first case of Legionnaires' disease with cerebellar dysfunction and seventh nerve palsy. Legionnaires' disease should be considered in patients with any neurological symptoms in the setting of pneumonia. Failure to recognize and treat the infection may lead to poor outcomes. PMID:21461048

  5. Rehabilitation outcomes of children with cerebral palsy.

    PubMed

    Yalcinkaya, Ebru Yilmaz; Caglar, Nil Sayıner; Tugcu, Betul; Tonbaklar, Aysegul

    2014-02-01

    [Purpose] To evaluate the results of Bobath-based rehabilitation performed at a pediatric cerebral palsy (CP) inpatient clinic. [Subjects and Methods] The study subjects were 28 children with CP who were inpatients at a pediatric service. Inclusion criteria were: being an inpatient of our hospital aged 2-12 with a diagnosis of CP; having one permanent primary caregiver; and the caregiver having no medical or psychotic problems. All of the patients received Bobath treatment for 1 hour per day, 5 days a week. The locomotor system, neurologic and orthopedic examination, Gross Motor Function Measure (GMFM) of the patients, and Short Form-36 (SF-36) of permanent caregivers were evaluated at the time of admission to hospital, discharge from hospital, and at 1 and 3 months after discharge. [Results] Post-admission scores of GMFM at discharge, and 1 and 3 months later showed significant increase. Social function and emotional role subscores of SF-36 had increased significantly at discharge. [Conclusion] Bobath treatment is promising and randomized controlled further studies are needed for rehabilitation technics. PMID:24648650

  6. Evaluation of the child with cerebral palsy.

    PubMed

    Russman, Barry S; Ashwal, Stephen

    2004-03-01

    Cerebral palsy (CP) is a common problem, occurring in about 2 to 2.5 per 1000 live births. The diagnosis of CP is based upon a history of abnormal motor development that is not progressive coupled with an examination (e.g. hypertonicity, increased reflexes, clonus) "placing" the lesion in the brain. In order to establish that a brain abnormality exists in children with CP that may, in turn, suggest an etiology and prognosis, neuroimaging is recommended with magnetic resonance imaging preferred to computed tomography. Metabolic and genetic studies should be obtained if there are atypical features in the history or on the examination. Detection of a brain malformation in a child with CP might suggest an underlying genetic or metabolic etiology. As cerebral infarction is high in children with hemiplegic CP, diagnostic testing for coagulation disorders should be considered. However, there is insufficient evidence at present to be precise as to what studies should be ordered. An electroencephalogram is not recommended unless there are features suggestive of epilepsy or a specific epileptic syndrome. As children with CP may have associated deficits of mental retardation, ophthalmologic and hearing impairments, speech and language disorders and oral-motor dysfunction, screening for these conditions should be part of the initial assessment. PMID:15132253

  7. Rehabilitation Outcomes of Children with Cerebral Palsy

    PubMed Central

    Yalcinkaya, Ebru Yilmaz; Caglar, Nil Sayıner; Tugcu, Betul; Tonbaklar, Aysegul

    2014-01-01

    [Purpose] To evaluate the results of Bobath-based rehabilitation performed at a pediatric cerebral palsy (CP) inpatient clinic. [Subjects and Methods] The study subjects were 28 children with CP who were inpatients at a pediatric service. Inclusion criteria were: being an inpatient of our hospital aged 2–12 with a diagnosis of CP; having one permanent primary caregiver; and the caregiver having no medical or psychotic problems. All of the patients received Bobath treatment for 1 hour per day, 5 days a week. The locomotor system, neurologic and orthopedic examination, Gross Motor Function Measure (GMFM) of the patients, and Short Form-36 (SF-36) of permanent caregivers were evaluated at the time of admission to hospital, discharge from hospital, and at 1 and 3 months after discharge. [Results] Post-admission scores of GMFM at discharge, and 1 and 3 months later showed significant increase. Social function and emotional role subscores of SF-36 had increased significantly at discharge. [Conclusion] Bobath treatment is promising and randomized controlled further studies are needed for rehabilitation technics. PMID:24648650

  8. Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease.

    PubMed

    Ling, Helen; Massey, Luke A; Lees, Andrew J; Brown, Peter; Day, Brian L

    2012-04-01

    Repetitive finger tapping is commonly used to assess bradykinesia in Parkinson's disease. The Queen Square Brain Bank diagnostic criterion of Parkinson's disease defines bradykinesia as 'slowness of initiation with progressive reduction in speed and amplitude of repetitive action'. Although progressive supranuclear palsy is considered an atypical parkinsonian syndrome, it is not known whether patients with progressive supranuclear palsy have criteria-defined bradykinesia. This study objectively assessed repetitive finger tap performance and handwriting in patients with Parkinson's disease (n = 15), progressive supranuclear palsy (n = 9) and healthy age- and gender-matched controls (n = 16). The motion of the hand and digits was recorded in 3D during 15-s repetitive index finger-to-thumb tapping trials. The main finding was hypokinesia without decrement in patients with progressive supranuclear palsy, which differed from the finger tap pattern in Parkinson's disease. Average finger separation amplitude in progressive supranuclear palsy was less than half of that in controls and Parkinson's disease (P < 0.001 in both cases). Change in tap amplitude over consecutive taps was computed by linear regression. The average amplitude slope in progressive supranuclear palsy was nearly zero (0.01°/cycle) indicating a lack of decrement, which differed from the negative slope in patients with Parkinson's disease OFF levodopa (-0.20°/cycle, P = 0.002). 'Hypokinesia', defined as <50% of control group's mean amplitude, combined with 'absence of decrement', defined as mean positive amplitude slope, were identified in 87% of finger tap trials in the progressive supranuclear palsy group and only 12% in the Parkinson's disease OFF levodopa group. In progressive supranuclear palsy, the mean amplitude was not correlated with disease duration or other clinimetric scores. In Parkinson's disease, finger tap pattern was compatible with criteria-defined bradykinesia

  9. Birth brachial plexus palsy: a race against time.

    PubMed

    Patra, Sambeet; Narayana Kurup, Jayakrishnan K; Acharya, Ashwath M; Bhat, Anil K

    2016-01-01

    A 5-year-old child presented to us with weakness of the left upper limb since birth. With the given history of obstetric trauma and limb examination, a diagnosis of birth brachial plexus palsy was made. Brachial plexus exploration along with microsurgery was performed at the same time which included extrinsic neurolysis of the roots and trunks and nerve transfer for better shoulder external rotation and elbow flexion. Both the movements were severely restricted previously due to co-contractures with the shoulder internal rotators and triceps. The problem of birth brachial plexus palsy is proving to be a global health burden both in developed countries and in developing countries such as India. The lack of awareness among the general public and primary healthcare providers and inadequate orthopaedic and neurosurgeons trained to treat the condition have worsened the prognosis. This case lays stress on the delayed complications in birth brachial palsy and its effective management. PMID:27402656

  10. Isolated Abducens Nerve Palsy: Update on Evaluation and Diagnosis.

    PubMed

    Elder, Christopher; Hainline, Clotilde; Galetta, Steven L; Balcer, Laura J; Rucker, Janet C

    2016-08-01

    Abducens nerve palsy is a common clinical finding in neurology practice. In many instances, the origin is obvious and management straightforward; however, the list of possible etiologies and mimics is vast and diverse and diagnostic decisions can be challenging and even controversial. This is especially true when the abducens nerve is affected in isolation, since in the current era of cost-effective medicine, it is critical to accurately diagnose etiologies that may lead to major morbidity or mortality with efficiency. Topics for highlighted updates in this review include management of isolated abducens nerve palsy with a high likelihood of a microvascular ischemic etiology; common imaging pitfalls and current state-of-the-art neuroimaging; and abducens palsy mimics. PMID:27306521

  11. Partial third nerve palsy after Measles Mumps Rubella vaccination

    PubMed Central

    2010-01-01

    Background Measles Mumps Rubella (MMR) vaccination is known to cause some serious adverse events, such as fever, rash, gland inflammation and neurologic disorders. These include third and sixth cranial nerve palsies. Results The case reported describes a partial recurrent oculomotor palsy associated with systemic symptoms following MMR vaccination in a healthy young child. The oculomotor palsy did not recover completely during the follow-up. Conclusions Most of the times, measles, mumps and rubella cause mild illness and discomfort; but can also have serious or fatal sequelae. MMR vaccination has been proved to be safe and to reduce significantly the number of reported infections due to these viruses. However, significant adverse events can occur and paediatricians and public health operators should be aware of this aspect. PMID:20831779

  12. Isolated unilateral oculomotor nerve palsy due to head trauma

    PubMed Central

    Erenler, Ali Kemal; Yalçın, Anıl; Baydin, Ahmet

    2015-01-01

    Unilateral oculomotor nerve palsy is a rare and challenging condition for both emergency department (ED) physicians and neurosurgeons. In this report, we present you a case of head trauma with oculomotor nerve palsy whose initial neuroimaging findings were normal. A 50-year-old female presented to our ED due to head trauma secondary to fall from height. On her physical examination, ptosis, minimal lateral deviation, and dilated pupilla unresponsive to the light were determined in the left eye. A computed tomography and magnetic resonance imaging were performed and both were found to be normal. Patient was consulted with an ophthalmologist and any sign of direct trauma to the eye was not determined. Then, the patient was consulted with a neurosurgeon and hospitalized. In some rare instances, minor traumas to the head may result in isolated oculomotor nerve palsy without accompanying findings. Neurosurgeons and ED physicians must be careful about this rare condition. PMID:26396626

  13. Biomechanical bases of rehabilitation of children with cerebral palsy

    NASA Astrophysics Data System (ADS)

    Davlet'yarova, K. V.; Korshunov, S. D.; Kapilevich, L. V.

    2015-11-01

    Biomechanical analysis and the study results of children's with cerebral palsy (CP) muscles bioelectrical activity while walking on a flat surface are represented. Increased flexion in the hip and shoulder joints and extension in the elbow joint in children with cerebral palsy were observed, with the movement of the lower limbs had less smooth character in comparison with the control group. Herewith, the oscillation amplitude was significantly increased, and the frequency in the m. gastrocnemius and m. lateralis was decreased. It was shown, that the dynamic stereotype of walking in children with cerebral palsy was characterized by excessive involvement of m. gastrocnemius and m.latissimus dorsi in locomotion. Thus, resulting biomechanical and bioelectrical parameters of walking should be considered in the rehabilitation programs development.

  14. Pharmacologic interventions for reducing spasticity in cerebral palsy.

    PubMed

    Patel, Dilip R; Soyode, Olufemi

    2005-10-01

    Motor function abnormalities are a key feature of cerebral palsy. Spasticity is one of the main motor abnormalities seen in children with cerebral palsy. Spasticity is a velocity dependent increased resistance to movement. While in some children, spasticity may adversely impact the motor abilities, in others, it may help maintain posture and ability to ambulate. Thus, treatment to reduce spasticity requires careful consideration of various factors. Non-pharmacologic interventions used to reduce spasticity include physiotherapy, occupational therapy, use of adaptive equipment, various orthopedic surgical procedures and neurosurgical procedures. Pharmacologic interventions used for reducing spasticity in children with cerebral palsy reviewed in this article include oral administration of baclofen, diazepam, dantrolene and tizanidine, intrathecal baclofen, and local injections of botulinum toxin, phenol, and alcohol. PMID:16272661

  15. Intrinsic Obstetric Palsy: Case Report and Literature Review.

    PubMed

    Hakeem, Rashida; Neppe, Cliff

    2016-04-01

    Maternal neurological injuries may be intrinsic to the labour and delivery process or may result directly or indirectly from obstetric or anaesthetic intervention. This intrinsic obstetric palsy is a rare complication of labour but can have devastating impact on a previously healthy mother. A 23-year-old gravida1, para0 who had epidural for labour analgesia, was augmented for slow progress and had a normal vaginal delivery. She was diagnosed post delivery with intrinsic obstetric palsy involving several peripheral nerves and lumbosacral nerve roots with a guarded prognosis. In this article we have discussed the risk factors and mechanisms of intrinsic obstetric palsy and proposed further investigation into the potential protective role of ambulatory analgesia i.e. CSE (Combined Spinal Epidural) or LDI (Low Dose Infusion). PMID:27190901

  16. Intrinsic Obstetric Palsy: Case Report and Literature Review

    PubMed Central

    Neppe, Cliff

    2016-01-01

    Maternal neurological injuries may be intrinsic to the labour and delivery process or may result directly or indirectly from obstetric or anaesthetic intervention. This intrinsic obstetric palsy is a rare complication of labour but can have devastating impact on a previously healthy mother. A 23-year-old gravida1, para0 who had epidural for labour analgesia, was augmented for slow progress and had a normal vaginal delivery. She was diagnosed post delivery with intrinsic obstetric palsy involving several peripheral nerves and lumbosacral nerve roots with a guarded prognosis. In this article we have discussed the risk factors and mechanisms of intrinsic obstetric palsy and proposed further investigation into the potential protective role of ambulatory analgesia i.e. CSE (Combined Spinal Epidural) or LDI (Low Dose Infusion). PMID:27190901

  17. Early postnatal hypotension is not associated with indicators of white matter damage or cerebral palsy in extremely low gestational age newborns

    PubMed Central

    Logan, J. Wells; O’Shea, T. Michael; Allred, Elizabeth N.; Laughon, Matthew M.; Bose, Carl L.; Dammann, Olaf; Batton, Daniel G.; Kuban, Karl C.; Paneth, Nigel; Leviton, Alan

    2011-01-01

    Objectives To evaluate, in extremely low gestational age newborns (ELGANs), relationships between indicators of early postnatal hypotension and cranial ultrasound indicators of cerebral white matter damage imaged in the nursery and cerebral palsy diagnoses at 24 month follow-up. Methods The 1041 infants in this prospective study were born at < 28 weeks gestation, were assessed for 3 indicators of hypotension in the first 24 postnatal hours, had at least one set of protocol cranial ultrasound scans, and were evaluated with a structured neurologic exam at 24 months corrected age. Indicators of hypotension included: 1) lowest mean arterial pressure (MAP) in the lowest quartile for gestational age; 2) treatment with a vasopressor; and 3) blood pressure lability, defined as the upper quartile of the difference between each infant’s lowest and highest MAP. Outcomes included indicators of cerebral white matter damage, i.e. moderate/severe ventriculomegaly or an echolucent lesion on cranial ultrasound, and cerebral palsy diagnoses at 24 months gestation. Logistic regression was used to evaluate relationships among hypotension indicators and outcomes, adjusting for potential confounders. Results Twenty-one percent of surviving infants had a lowest blood pressure in the lowest quartile for gestational age, 24% were treated with vasopressors, and 24% had labile blood pressure. Among infants with these hypotension indicators, 10% percent developed ventriculomegaly and 7% developed an echolucent lesion. At 24-months follow-up, 6% had developed quadriparesis, 4% diparesis, and 2% hemiparesis. After adjusting for confounders, we found no association between indicators of hypotension, and indicators of cerebral white matter damage or a cerebral palsy diagnosis. Conclusions The absence of an association between indicators of hypotension and cerebral white matter damage and or cerebral palsy suggests that early hypotension may not be important in the pathogenesis of brain injury

  18. Bell's palsy following primary tooth extraction. A case report.

    PubMed

    Owsley, David; Goldsmith, Jay P

    2012-04-01

    Bell's palsy is characterized by acute peripheral facial nerve paralysis. Unilateral paralysis of CN 7 is reported in 20 to 30 people out of 100,000 in the general population. It affects individuals of all ages. Most cases are idiopathic, while a few are identified as resulting from infectious or non-infectious causes. The association between herpes simplex virus-1 (HSV-1) and Bell's palsy has been considered since the 1970s. Few cases have been reported after tooth extraction. PMID:22803274

  19. Complete oculomotor palsy caused by persistent trigeminal artery.

    PubMed

    Bosco, Domenico; Consoli, Domenico; Lanza, Pier Luigi; Plastino, Massimiliano; Nicoletti, Francesco; Ceccotti, Claudio

    2010-10-01

    Primitive trigeminal artery (PTA) is the most frequent embryonic communication between the carotid and vertebro-basilar system. PTA is a pathophysiology phenomenon which has been implicated as a rare cause of cranial nerve dysfunction. We report the case of a 40-year-old woman who developed a complete oculomotor nerve palsy caused by a persistent ecstatic trigeminal artery. Brain MRI and MRA studies documented a neurovascular conflict between the oculomotor nerve and a PTA. To the best of our knowledge there is no report about complete third cranial nerve palsy NC due to a PTA. A role of this rare vascular condition is discussed. PMID:20552240

  20. Key emerging issues in progressive supranuclear palsy and corticobasal degeneration.

    PubMed

    Josephs, Keith A

    2015-03-01

    It has been approximately 50 years since neurologists were introduced to the entities, "progressive supranuclear palsy" and "corticobasal degeneration". Since the two seminal publications, there have been significant advancements in our understanding of these two neurodegenerative diseases, particularly the fact that both are associated with tau. Recent advances over the past 3 years that are notable to the field are discussed in this review that covers clinical diagnosis, pathological features, neuroimaging and CSF biomarkers, genetic associations and clinical trials related to progressive supranuclear palsy and corticobasal degeneration. PMID:25701010

  1. A Review of Treatment Options for Progressive Supranuclear Palsy.

    PubMed

    Stamelou, Maria; Höglinger, Günter

    2016-07-01

    Progressive supranuclear palsy (PSP) is an atypical parkinsonian condition characterized by a symmetric akinetic-rigid syndrome, early falls, supranuclear gaze palsy, and a frontotemporal behavioral syndrome. The typical phenotype is termed Richardson's syndrome, but numerous other phenotypes have been described. The pathophysiology of PSP is not fully understood, but dysfunction of the tau protein seems to play a central role. Despite exciting new knowledge on the pathophysiology of PSP, there is still no highly effective symptomatic or disease-modifying treatment. We review the evidence on pharmacotherapy and experimental therapies in PSP and provide levels of recommendation for the off-label use of commonly used drugs in this disorder. PMID:27222018

  2. Cerebral Palsy Among Asian Ethnic Subgroups

    PubMed Central

    Lang, Tess C.; Fuentes-Afflick, Elena; Gilbert, William M.; Newman, Thomas B.; Xing, Guibo

    2012-01-01

    OBJECTIVE: Asians have a reduced risk for cerebral palsy (CP) compared with whites. We examined whether individual Asian subgroups have a reduced risk of CP and whether differences in sociodemographic factors explain disparities in CP prevalence. METHODS: In a retrospective cohort of 629 542 Asian and 2 109 550 white births in California from 1991 to 2001, we identified all children who qualified for services from the California Department of Health Services on the basis of CP. Asians were categorized as East Asian (Chinese, Japanese, Koreans), Filipino, Indian, Pacific Islander (Guamanians, Hawaiians, and Pacific Islanders), Samoan, or Southeast Asian (Cambodian, Laotian, Thai, Vietnamese). RESULTS: Overall, CP prevalence was lower in Asians than whites (1.09 vs 1.36 per 1000; relative risk = 0.80, 95% confidence interval [CI] = 0.74–0.87) and ranged from 0.61/1000 in Thai children to 2.08/1000 in Samoan children. Several Asian subgroups had low risk profiles with respect to maternal age, educational attainment, and birth weight. However, after we adjusted for maternal age and education, infant gender, and birth weight, the adjusted risk of CP remained lower in East Asians (odds ratio [OR] = 0.75, 95% CI = 0.65–0.87), Filipinos (OR = 0.87, 95% CI = 0.75–0.99), Indians (OR = 0.59, 95% CI = 0.44–0.80), Pacific Islanders (OR = 0.62, 95% CI = 0.40–0.97), and Southeast Asians (OR = 0.68, 95% CI = 0.57–0.82) compared with whites. CONCLUSIONS: Most Asian national origin subgroups have a lower rate of CP than whites, and this disparity is unexplained. Additional studies that focus on the cause of ethnic disparities in CP may provide new insights into pathogenesis and prevention. PMID:22430449

  3. Treating cerebral palsy with aculaser therapy

    NASA Astrophysics Data System (ADS)

    Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Dar, Irfan

    2008-03-01

    A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensory-neural deafness and speech disorders. In all 250 childern were treated and the data was gathered during a period of 3 years from December 2003 till December 2006. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for minimum 6 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 171 children with Spasticity and Stiffness 147 showed marked improvement showing 87% success rate, out of 126 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 91 children showing 72% success rate, out of 48 children with Cortical Blindness 30 children showed improvement accounting for 63% efficacy rate, out of 105 children with Hearing Difficulties, 63 showed marked improvement accounting for 60% improvement rate, out of 190 children with Speech Disorders 122 showed improvement reflecting 64% improvement rate, out of 96 children with Hemiplegia 71 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 76 children with Quadriplegia 52 showed improvement in gross and fine motor functions showing 69% success rate and out of 58 children with Paraplegia of

  4. Rating Scales for Dystonia in Cerebral Palsy: Reliability and Validity

    ERIC Educational Resources Information Center

    Monbaliu, E.; Ortibus, E.; Roelens, F.; Desloovere, K.; Deklerck, J.; Prinzie, P.; De Cock, P.; Feys, H.

    2010-01-01

    Aim: This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Method: Three raters independently scored videotapes of 10 patients (five males, five females;…

  5. Cerebral Palsy Symptoms in Children Decreased Following Massage Therapy

    ERIC Educational Resources Information Center

    Hernandez-Reif, Maria; Field, Tiffany; Largie, Shay; Diego, Miguel; Manigat, Natasha; Seoanes, Jacqueline; Bornstein, Joan

    2005-01-01

    Twenty young children (mean age = 32 months) with cerebral palsy (CP) recruited from early intervention programs received 30 minutes of massage or reading twice weekly for 12 weeks. The children receiving massage therapy showed fewer physical symptoms including reduced spasticity, less rigid muscle tone overall and in the arms, and improved fine…

  6. Reproducibility of Tactile Assessments for Children with Unilateral Cerebral Palsy

    ERIC Educational Resources Information Center

    Auld, Megan Louise; Ware, Robert S.; Boyd, Roslyn Nancy; Moseley, G. Lorimer; Johnston, Leanne Marie

    2012-01-01

    A systematic review identified tactile assessments used in children with cerebral palsy (CP), but their reproducibility is unknown. Sixteen children with unilateral CP and 31 typically developing children (TDC) were assessed 2-4 weeks apart. Test-retest percent agreements within one point for children with unilateral CP (and TDC) were…

  7. Aerobic Capacity in Children and Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Verschuren, Olaf; Takken, Tim

    2010-01-01

    This study described the aerobic capacity [VO[subscript 2peak] (ml/kg/min)] in contemporary children and adolescents with cerebral palsy (CP) using a maximal exercise test protocol. Twenty-four children and adolescents with CP classified at Gross Motor Functional Classification Scale (GMFCS) level I or level II and 336 typically developing…

  8. Retrospective Descriptive Study of Cerebral Palsy in Nepal

    ERIC Educational Resources Information Center

    Thapa, Ritesh

    2016-01-01

    There is very little data pertaining to cerebral palsy (CP) from Nepal. In this retrospective study it was observed that dyskinetic CP was seen in 29% and the sex ratio of males to females was two in the study population of children with CP. Both of these are much higher than data from developed countries. Hence, further randomized cross-sectional…

  9. Early Numeracy in Cerebral Palsy: Review and Future Research

    ERIC Educational Resources Information Center

    van Rooijen, Maaike; Verhoeven, Ludo; Steenbergen, Bert

    2011-01-01

    Children with cerebral palsy (CP) often have problems with arithmetic, but the development of numerical abilities in these children has received only minor attention. In comparison, detailed accounts have been written on the arithmetic abilities of typically developing children, but a theoretical framework is still lacking. A promising perspective…

  10. Hansen's disease and HIV coinfection with facial nerve palsy.

    PubMed

    Yadav, Nidhi; Kar, Sumit; Madke, Bhushan; Gangane, Nitin

    2015-01-01

    There are very few published reports of HIV leprosy co infection in India in spite of having a large burden of both leprosy and HIV. Herein we are reporting a case of co-infection of Hansen's disease and HIV with facial nerve palsy. PMID:25883486

  11. Isolated unilateral hypoglossal nerve palsy after minor head trauma.

    PubMed

    Kaushik, Vivek; Kelly, Gerard; Richards, Stuart D; Saeed, Shakeel R

    2002-12-01

    Isolated unilateral hypoglossal nerve palsy after fracture of the occipital condyle is rare. It usually occurs after major trauma, such as high-speed deceleration injuries following road traffic accidents. We describe a case that resulted from minor trauma. An underlying skull base malformation may have been a predisposing factor. PMID:12445924

  12. Bathing Techniques for Children Who Have Cerebral Palsy.

    ERIC Educational Resources Information Center

    Dunaway, Avtar; Klein, Marsha Dunn

    Helpful techniques are offered for making bathtime easier, safer, and more fun for children who have cerebral palsy. Safety in the bathtub is stressed, both for the child who needs protection from slippery surfaces and extreme water temperature, and for the caregiver who must lift and carry the child without causing injury to the lower back.…

  13. Human Evolution: The Real Cause for Birth Palsy

    PubMed Central

    Sreekanth, R; Thomas, BP

    2015-01-01

    ABSTRACT Objective: Birth palsy, otherwise known as obstetric brachial plexus paralysis (OBPP), is a closed stretch injury to the brachial plexus of nerves during the birth process resulting in varying degree of paralysis and contractures of the upper limb. The study aimed to find out the susceptibility of humans and small-bodied primates to birth palsy. Method: A comparative study on parturition in modern humans, hominoids, hominids, small-bodied primates and great apes was done to determine if changes in the female pelvis and neonatal head and shoulder during human evolution is the real cause for OBPP. Results: During evolution, the morphology of the female pelvis and birth canal changed into a narrow and twisted one and also the size of the fetal head increased. Thus, the narrow and twisted pelvis of the mother, and the relatively large head and broad shoulders of the newborn has made the birthing process of modern human and small bodied primates a precarious fine-tuned act with a very narrow margin for error. This has necessitated proper obstetric care to reduce or even at times obviate the incidence of birth injuries like OBPP. Conclusion: Human evolution has made human babies susceptible to birth palsy and thus is the real cause of birth palsy. PMID:26624599

  14. Training Guide to Cerebral Palsy Sports. Third Edition.

    ERIC Educational Resources Information Center

    Jones, Jeffery A., Ed.

    This official training manual of the United States Cerebral Palsy Athletic Association includes the latest coaching and training techniques specific to all sports in the national program. The book features guidelines for coaching over a dozen sports, including soccer, swimming, cycling, and track and field. It contains everything coaches,…

  15. Intermittent versus Continuous Physiotherapy in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Christiansen, Annette Sandahl; Lange, Christa

    2008-01-01

    The aim of this study was to compare the effect of the delivery of the same amount of intermittent versus continuous physiotherapy given to children with cerebral palsy (CP). This was organized either in an intermittent regime four times a week for 4 weeks alternating with a 6-week treatment pause, or a continuous once or twice a week regime, both…

  16. Lyme borreliosis as a cause of facial palsy during pregnancy.

    PubMed

    Grandsaerd, M J; Meulenbroeks, A A

    2000-07-01

    The medical history of a pregnant woman in whom the initial pattern of complaints suggested hyperemesis gravidarum is described. After about 18 days the patient developed left facial palsy. Repeated tests eventually confirmed the diagnosis of neuroborreliosis. The problems concerning diagnostics, therapy and the possible complications of Lyme borreliosis during gestation are described. PMID:10817889

  17. Hansen's disease and HIV coinfection with facial nerve palsy

    PubMed Central

    Yadav, Nidhi; Kar, Sumit; Madke, Bhushan; Gangane, Nitin

    2015-01-01

    There are very few published reports of HIV leprosy co infection in India in spite of having a large burden of both leprosy and HIV. Herein we are reporting a case of co-infection of Hansen's disease and HIV with facial nerve palsy. PMID:25883486

  18. Diversity of Participation in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Imms, Christine; Reilly, Sheena; Carlin, John; Dodd, Karen

    2008-01-01

    The aim of this study was to investigate the participation of children with cerebral palsy (CP) in activities outside school and to compare their participation with a large representative sample of children. A population-based survey was conducted of children with CP born in Victoria, Australia in 1994 and 1995. Of 219 living children identified,…

  19. Attentional and Executive Impairments in Children with Spastic Cerebral Palsy

    ERIC Educational Resources Information Center

    Bottcher, Louise; Flachs, Esben Meulengracht; Uldall, Peter

    2010-01-01

    Aim: Children with cerebral palsy (CP) are reported to have learning and social problems. The aim of the present study was to examine whether children with CP have impairments in attention or executive function. Method: We examined attention and executive function with standardized neuropsychological measures in a group of children with unilateral…

  20. Cerebral Palsy and Communication--What Parents Can Do.

    ERIC Educational Resources Information Center

    Golbin, Arlene, Ed.

    Intended for parents of cerebral palsied children, the manual discusses special communication problems that often accompany the condition, and describes various strategies for helping such children communicate. A chapter on positioning for speech diagrams 14 different positions to help facilitate better functioning in many areas, including speech.…

  1. Behaviour in Children with Cerebral Palsy with and without Epilepsy

    ERIC Educational Resources Information Center

    Carlsson, Malin; Olsson, Ingrid; Hagberg, Gudrun; Beckung, Eva

    2008-01-01

    The aim of the study was to describe behavioural problems in children with cerebral palsy (CP) with and without epilepsy. The children were sampled from the Western Sweden CP register and were part of a European Union project. The Strength and Difficulties Questionnaire and questions on epilepsy were answered by one parent of each child. Medical…

  2. Rehabilitation of Bells' palsy from a multi-team perspective.

    PubMed

    Hultcrantz, Malou

    2016-04-01

    Conclusions Defectively healed facial paralysis causes difficulties to talk and eat, involuntary spasms (synkinesis), and cosmetic deformities which can give rise both to severe psychological and physical trauma. A team consisting of Ear-Nose-Throat specialists, Plastic surgeons and Physiotherapists can offer better care, treatment and outcome for patients suffering from Bells' palsy. Objectives Patients suffering from Bells' palsy from all ENT hospitals in Sweden and the University Hospital in Helsinki has been included. Methods Results have been drawn and statistically processed for different outcomes from a prospective, double blind cross over study. Results from a pilot surgical study and therapeutic results from physiotherapy studies have been included. Ideas concerning different kinds of surgery will be reviewed and the role of physiotherapy discussed. Results According to common results, treatment with Prednisolone enhances the recovery rate and should, if possible, be used early in the course. Sunnybrook grading at 1 month after onset most accurately predicts non-recovery at 12 months in Bells' palsy and a risk factor curve will be presented in order to predict outcome and selection of patients for undergoing facial surgery. This report is focusing on how to handle patients with Bells' palsy from a multi-rehabilitation team point of view, and what will be recommended to provide these patients with the best clinical and surgical help. PMID:26634395

  3. Cerebral Palsy Checklist: Teens & Young Adult (13 to 21)

    MedlinePlus

    ... What to Say Vaccines: Which Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 ... is a young-adult education program in your school or community. This program focuses on teaching life skills, such as cooking, ...

  4. The Determinants of Daily Function in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Tseng, Mei-Hui; Chen, Kuan-Lin; Shieh, Jeng-Yi; Lu, Lu; Huang, Chien-Yu

    2011-01-01

    The aim of this study was to identify determinants of daily function in a population-based sample of children with cerebral palsy (CP). The study took into consideration factors from the entire scope of the International Classification of Functioning, Disability, and Health (ICF). Furthermore, the determinants of daily function were examined from…

  5. Multiple concomitant cranial nerve palsies secondary to preeclampsia.

    PubMed

    Gilca, Marina; Luneau, Katie

    2015-06-01

    A 32-year-old primigravid woman developed pre-eclampsia after delivery of twins along with left fifth, sixth, and seventh cranial neuropathies. She also had evidence of hepatic and renal involvement. Results of patient evaluation were otherwise unremarkable, and the palsies completely resolved over 3 months after treatment with valacyclovir and systemic corticosteroids. PMID:25768245

  6. Stability of Motor Impairment in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Shevell, Michael I.; Majnemer, Annette; Poulin, Chantal; Law, Mary

    2008-01-01

    Classification of the quality and topographical pattern of motor impairment is used to describe cerebral palsy (CP). As an adjunct to a study characterizing the quality of life and participation of school-age children with CP, initial and follow-up classification of CP were compared. A cohort of 93 children (58 males, 35 females) were initially…

  7. Physical and Sedentary Activity in Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Maher, Carol A.; Williams, Marie T.; Olds, Tim; Lane, Alison E.

    2007-01-01

    Participation in regular physical activity (PA) provides health, psychological, and physiological benefits for people with and without a physical disability. This study investigated the physical and sedentary activity patterns of adolescents with cerebral palsy (CP). A cross-sectional, descriptive, postal survey was used, consisting of the…

  8. Growth and Nutrition Disorders in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Kuperminc, Michelle N.; Stevenson, Richard D.

    2008-01-01

    Growth and nutrition disorders are common secondary health conditions in children with cerebral palsy (CP). Poor growth and malnutrition in CP merit study because of their impact on health, including psychological and physiological function, healthcare utilization, societal participation, motor function, and survival. Understanding the etiology of…

  9. Predictors of Verbal Working Memory in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Peeters, Marieke; Verhoeven, Ludo; de Moor, Jan

    2009-01-01

    The goal of the present study was to examine the precursors of verbal working memory in 52 children with cerebral palsy with varying degrees of speech impairments in the first grade of special education. Following Baddeley's model of working memory, children's verbal working memory was measured by means of a forced-recognition task. As precursors…

  10. Functional Electrical Stimulation in Children and Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    van der Linden, Marietta

    2012-01-01

    In this article, the author talks about functional electrical stimulation in children and adolescents with cerebral palsy. Functional electrical stimulation (FES) is defined as the electrical stimulation of muscles that have impaired motor control, in order to produce a contraction to obtain functionally useful movement. It was first proposed in…

  11. Tactile Assessment in Children with Cerebral Palsy: A Clinimetric Review

    ERIC Educational Resources Information Center

    Auld, Megan Louise; Boyd, Roslyn Nancy; Moseley, G. Lorimer; Johnston, Leanne Marie

    2011-01-01

    This review evaluates the clinimetric properties of tactile assessments for children with cerebral palsy. Assessment of registration was reported using Semmes Weinstein Monofilaments (SWMs) or exteroception. Assessment of two-point discrimination was reported using the Disk-Criminator[R] or paperclip methods; Single point localization and double…

  12. Home Literacy Environment: Characteristics of Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Peeters, Marieke; Verhoeven, Ludo; van Balkom, Hans; de Moor, Jan

    2009-01-01

    Background: Various aspects of the home literacy environment are considered to stimulate the emergent literacy development in children without disabilities. It is important to gain insight into the home literacy environment of children with cerebral palsy given that they have been shown to have difficulty acquiring literacy skills. Aims: The aims…

  13. Language and Motor Speech Skills in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Pirila, Silja; van der Meere, Jaap; Pentikainen, Taina; Ruusu-Niemi, Pirjo; Korpela, Raija; Kilpinen, Jenni; Nieminen, Pirkko

    2007-01-01

    The aim of the study was to investigate associations between the severity of motor limitations, cognitive difficulties, language and motor speech problems in children with cerebral palsy. Also, the predictive power of neonatal cranial ultrasound findings on later outcome was investigated. For this purpose, 36 children (age range 1 year 10 months…

  14. Understanding Participation of Preschool-Age Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Chiarello, Lisa Ann; Palisano, Robert J.; Orlin, Margo N.; Chang, Hui-Ju; Begnoche, Denise; An, Mihee

    2012-01-01

    Participation in home, school, and community activities is a primary outcome of early intervention services for children with disabilities and their families. The objectives of this study were to (a) describe participation of preschool-age children with cerebral palsy (CP); (b) determine effects of sex, age, and gross motor function on intensity…

  15. Robot-Assisted Task-Specific Training in Cerebral Palsy

    ERIC Educational Resources Information Center

    Krebs, Hermano I.; Ladenheim, Barbara; Hippolyte, Christopher; Monterroso, Linda; Mast, Joelle

    2009-01-01

    Our goal was to examine the feasibility of applying therapeutic robotics to children and adults with severe to moderate impairment due to cerebral palsy (CP). Pilot results demonstrated significant gains for both groups. These results suggest that robot-mediated therapy may be an effective tool to ameliorate the debilitating effects of CP and…

  16. Childhood Educational Experiences of Women with Cerebral Palsy

    ERIC Educational Resources Information Center

    Freeborn, Donna; Mandleco, Barbara

    2010-01-01

    The purpose of this study was to examine the childhood experiences of women with cerebral palsy (CP), from the perspectives of these women. Using the feminist biographical method, eight women with CP participated in two in-depth interviews. Participants ranged in age from 22 to 55 years and had moderate to severe athetoid or spastic CP. Four…

  17. Bimanual Force Coordination in Children with Spastic Unilateral Cerebral Palsy

    ERIC Educational Resources Information Center

    Smits-Engelsman, B. C. M.; Klingels, K.; Feys, H.

    2011-01-01

    In this study bimanual grip-force coordination was quantified using a novel "Gripper" system that records grip forces produced while holding a lower and upper unit, in combination with the lift force necessary to separate these units. Children with unilateral cerebral palsy (CP) (aged 5-14 years, n = 12) were compared to age matched typically…

  18. Quantity Concept Development in Individuals with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Lister, Caroline; Juniper, Kirsten

    1995-01-01

    Investigated order of quantity concept development on a range of quantity conservation tasks. Subjects were 15 adults and children having spastic cerebral palsy from birth and attending the same special school or day unit. Found a sequence of development similar to that in children without the handicap, and scalogram analysis supported similarity…

  19. Degree of Involvement and Young Children with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Parette, H. P., Jr.; And Others

    1996-01-01

    Studies of the degree of involvement (DOI) and its relationship to therapeutic intervention effectiveness and related services for young children with cerebral palsy were reviewed. Three dimensions of DOI: (1) brain damage and mental retardation, (2) functional motor ability, and (3) emotional disturbance and behavior problems were reviewed. The…

  20. Nutritional Assessment of the Young Child with Cerebral Palsy.

    ERIC Educational Resources Information Center

    Fee, Maureen A.; And Others

    1988-01-01

    Children with cerebral palsy sometimes display nutritional inadequacy, as evaluated through anthropometric measurements and laboratory values. Causes of poor nutritional status include inadequate calories offered or adequate calories offered but not consumed. Inadequate caloric retention may be due to vomiting, rumination, or gastroesophageal…

  1. Comparing Scanning Modes for Youths with Cerebral Palsy. Final Report.

    ERIC Educational Resources Information Center

    Ottenbacher, Kenneth J.; Angelo, Jennifer

    This study of 22 individuals (ages 13-20) with cerebral palsy investigated the use of scanning, an interface technique that allows access to assistive devices such as communication boards, electronic augmentative communication devices, and computers by using a pointer, either a finger or a cursor. This packet of information includes the findings…

  2. Bilateral Abducent Nerve Palsy After Neck Trauma: A Case Report

    PubMed Central

    Aminiahidashti, Hamed; Shafiee, Sajad; Sazegar, Mohammad; Nosrati, Nazanin

    2016-01-01

    Introduction The abducent nucleus is located in the upper part of the rhomboid fossa beneath the fourth ventricle in the caudal portion of the pons. The abducent nerve courses from its nucleus, to innervate the lateral rectus muscle. This nerve has the longest subarachnoid course of all the cranial nerves, it is the cranial nerve most vulnerable to trauma. It has been reported that 1% to 2.7% of all head injuries are followed by unilateral abducent palsy, but bilateral abducent nerve palsy is extremely rare. Case Presentation A 65-year-old woman presented to the emergency department following a motor vehicle accident. A neurological assessment showed the patient’s Glascow coma scale (GCS) to be 15. She complained of double vision, and we found lateral gaze palsy in both eyes. A hangman fracture type IIA (C2 fracture with posterior ligamentous C1 - C2 distraction) was found on the cervical CT scan. A three-month follow-up of the patient showed complete recovery of the abducent nerve. Conclusions Conservative treatment is usually recommended for traumatic bilateral abducent nerve palsy. Our patient recovered from this condition after three months without any remaining neurological deficit, a very rare outcome in a rare case. PMID:27218062

  3. Cerebral palsy litigation: change course or abandon ship.

    PubMed

    Sartwelle, Thomas P; Johnston, James C

    2015-06-01

    The cardinal driver of cerebral palsy litigation is electronic fetal monitoring, which has continued unabated for 40 years. Electronic fetal monitoring, however, is based on 19th-century childbirth myths, a virtually nonexistent scientific foundation, and has a false positive rate exceeding 99%. It has not affected the incidence of cerebral palsy. Electronic fetal monitoring has, however, increased the cesarian section rate, with the expected increase in mortality and morbidity risks to mothers and babies alike. This article explains why electronic fetal monitoring remains endorsed as efficacious in the worlds' labor rooms and courtrooms despite being such a feeble medical modality. It also reviews the reasons professional organizations have failed to condemn the use of electronic fetal monitoring in courtrooms. The failures of tort reform, special cerebral palsy courts, and damage limits to stem the escalating litigation are discussed. Finally, the authors propose using a currently available evidence rule-the Daubert doctrine that excludes "junk science" from the courtroom-as the beginning of the end to cerebral palsy litigation and electronic fetal monitoring's 40-year masquerade as science. PMID:25183322

  4. Factors affecting epilepsy development and epilepsy prognosis in cerebral palsy.

    PubMed

    Mert, Gulen Gul; Incecik, Faruk; Altunbasak, Sakir; Herguner, Ozlem; Mert, Mustafa Kurthan; Kiris, Nurcihan; Unal, Ilker

    2011-08-01

    A study was conducted between November 2006 and October 2009 to determine the factors predicting the presence and prognosis of epilepsy in patients with cerebral palsy. We enrolled 2 groups of patients: 42 with cerebral palsy in group 1 and 56 patients with cerebral palsy and epilepsy in group 2. The subjects in group 2 were considered to have good epilepsy prognosis if they were free of seizures for the previous year; otherwise they were considered to have poor epilepsy prognosis. In group 2, neonatal epilepsy, family history of epilepsy, and moderate to severe mental retardation were significantly higher than in group 1 (P < 0.05). In univariate analysis, neonatal seizures, epileptic activity as measured by electroencephalography, and polytherapy were found to be predictors of poor epilepsy prognosis. Additionally, the need for long-term medication to control seizures unfavorably affects prognosis. In logistic regression analysis, neonatal seizure and interictal epileptic activity in electroencephalography were found to be independent predictors of poor epilepsy outcome. In addition, logistic regression analysis revealed that increasing age reduces the success of epilepsy treatment. Neonatal seizures, family history of epilepsy, and mental retardation were found to be important and independent predictors of development of epilepsy in patients with cerebral palsy. PMID:21763948

  5. Portrayals of People with Cerebral Palsy in Homicide News

    ERIC Educational Resources Information Center

    Lucardie, Richard; Sobsey, Dick

    2005-01-01

    Through content analysis, employing qualitative and quantitative methods, Canadian media representation of people with cerebral palsy (PWCP) in public life was examined. Canadian NewsDisc, an online biographic database service, was used to examine the use of stigmatizing language such as afflicted by, afflicted with, suffered from, suffers from,…

  6. Aberrant regeneration in idiopathic oculomotor nerve palsy: case report.

    PubMed

    Laguna, J F; Smith, M S

    1980-06-01

    Aberrant regeneration of the oculomotor nerve usually follows injury to the nerve by posterior communicating arty aneurysms or trauma. A case of idiopathic third nerve palsy with pupillary involvement occurred in an otherwise healthy 38-year-old man. Follow-up examination 32 months later showed evidence of oculomotor function with aberrant regeneration. PMID:7381547

  7. Neuro-ophthalmological approach to facial nerve palsy

    PubMed Central

    Portelinha, Joana; Passarinho, Maria Picoto; Costa, João Marques

    2014-01-01

    Facial nerve palsy is associated with significant morbidity and can have different etiologies. The most common causes are Bell’s palsy, Ramsay–Hunt syndrome and trauma, including surgical trauma. Incidence varies between 17 and 35 cases per 100,000. Initial evaluation should include accurate clinical history, followed by a comprehensive investigation of the head and neck, including ophthalmological, otological, oral and neurological examination, to exclude secondary causes. Routine laboratory testing and diagnostic imaging is not indicated in patients with new-onset Bell’s palsy, but should be performed in patients with risk factors, atypical cases or in any case without resolution within 4 months. Many factors are involved in determining the appropriate treatment of these patients: the underlying cause, expected duration of nerve dysfunction, anatomical manifestations, severity of symptoms and objective clinical findings. Systemic steroids should be offered to patients with new-onset Bell’s palsy to increase the chance of facial nerve recovery and reduce synkinesis. Ophthalmologists play a pivotal role in the multidisciplinary team involved in the evaluation and rehabilitation of these patients. In the acute phase, the main priority should be to ensure adequate corneal protection. Treatment depends on the degree of nerve lesion and on the risk of the corneal damage based on the amount of lagophthalmos, the quality of Bell’s phenomenon, the presence or absence of corneal sensitivity and the degree of lid retraction. The main therapy is intensive lubrication. Other treatments include: taping the eyelid overnight, botulinum toxin injection, tarsorrhaphy, eyelid weight implants, scleral contact lenses and palpebral spring. Once the cornea is protected, longer term planning for eyelid and facial rehabilitation may take place. Spontaneous complete recovery of Bell’s palsy occurs in up to 70% of cases. Long-term complications include aberrant regeneration

  8. Use of Sensorimotor Functions for Early Identification and Neurohabilitation of Infants with Cerebral Palsy and/or Cerebral Palsy Precursors.

    ERIC Educational Resources Information Center

    Covey, Thomas J.

    1997-01-01

    Presents the use of six sensorimotor functions (SMF) as a screening test for cerebral palsy in neonates. Functions include sitting in air, self-pulling to sit, self-propelling Katona slide crawl, assisted crawling, and elementary walking. Nine case examples are provided in an appendix. (Author/CR)

  9. Progressive Bilateral Facial Palsy as a Manifestation of Granulomatosis With Polyangiitis: A Case Report

    PubMed Central

    2016-01-01

    Bilateral facial palsy, which is usually combined with other diseases, occurs infrequently. It may imply a life-threatening condition. Therefore, the differential diagnosis of bilateral facial palsy is important. However, the etiology is variable, which makes diagnosis challenging. We report a rare case of progressive bilateral facial palsy as a manifestation of granulomatosis with polyangiitis (GPA). A 40-year-old male with otitis media and right facial palsy was referred for electroneurography (ENoG), which showed a 7.7% ENoG. Left facial palsy occurred after 2 weeks, and multiple cavitary opacities were noted on chest images. GPA was diagnosed by lung biopsy. His symptoms deteriorated and mononeuropathy multiplex developed. The possibility of systemic disease, such as GPA, should be considered in patients presenting with bilateral facial palsy, the differential diagnosis of which is summarized in this report. PMID:27606281

  10. Progressive Bilateral Facial Palsy as a Manifestation of Granulomatosis With Polyangiitis: A Case Report.

    PubMed

    Jeong, Sang Mee; Park, Joo Hyun; Lee, Jong In; Nam, Kyung Eun; Lee, Jung Soo; Kim, Joo Hee

    2016-08-01

    Bilateral facial palsy, which is usually combined with other diseases, occurs infrequently. It may imply a life-threatening condition. Therefore, the differential diagnosis of bilateral facial palsy is important. However, the etiology is variable, which makes diagnosis challenging. We report a rare case of progressive bilateral facial palsy as a manifestation of granulomatosis with polyangiitis (GPA). A 40-year-old male with otitis media and right facial palsy was referred for electroneurography (ENoG), which showed a 7.7% ENoG. Left facial palsy occurred after 2 weeks, and multiple cavitary opacities were noted on chest images. GPA was diagnosed by lung biopsy. His symptoms deteriorated and mononeuropathy multiplex developed. The possibility of systemic disease, such as GPA, should be considered in patients presenting with bilateral facial palsy, the differential diagnosis of which is summarized in this report. PMID:27606281

  11. Candidate single-nucleotide polymorphisms and cerebral palsy: A case-control study

    PubMed Central

    HE, XIAO-GUANG; PENG, QI; CHEN, YAN-HUA; HE, TING; HUANG, HUI; MA, ZE-KE; FAN, XUE-JIN; LUO, LING; LIU, SHAO-JI; LU, XIAO-MEI

    2015-01-01

    Certain genetic polymorphisms have been suggested to be associated with cerebral palsy; the candidate genes are involved in thrombophilia, inflammation and preterm labor, but the mechanism remains to be elucidated. The aim of the present study was to investigate the associations between selected single-nucleotide polymorphisms (SNPs) and cerebral palsy among children. A case-control study was conducted, including 74 infants with cerebral palsy (case group) and 99 healthy infants (control group). The distributions of the allele and genotype frequencies were examined for the total cerebral palsy patient population in addition to subgroups divided according to gestational age (preterm versus full-term). The results showed that the rs1042714 variant in adrenergic receptor β-2 (ADRB2) and heterozygosity for ADRB2 were associated with the cerebral palsy risk among the preterm infants. No significant differences in the allele or genotype frequencies were observed between the total cerebral palsy patient population and controls for the eight SNPs investigated. PMID:26623029

  12. Pupil-sparing third nerve palsies and hemiataxia: Claude's and reverse Claude's syndrome.

    PubMed

    Bateman, James R; Murty, Pavan; Forbes, Michael; Collier, Kisha Young; Tememe, Danoushka; Marchena, Octavio de; Powers, William J

    2016-06-01

    We report two patients with midbrain infarction with pupil-sparing third nerve palsies and hemiataxia: one with contralateral ataxia (Claude's syndrome) and one with ipsilateral ataxia (which we refer to as reverse Claude's syndrome). We highlight the importance of a thorough neurologic evaluation with partial oculomotor palsies and describe, to our knowledge, the fourth account in the literature of a pupil-sparing third nerve palsy with ipsilateral cerebellar ataxia. PMID:26883351

  13. Peroneal neuropathy after weight loss.

    PubMed

    Cruz-Martinez, A; Arpa, J; Palau, F

    2000-06-01

    The objectives of this study were to evaluate the clinical and electrophysiological findings in peroneal mononeuropathies following a weight-reduction diet. Thirty patients with acute peroneal palsy and weight loss were studied. Complete nerve conduction studies (NCS) were performed in upper and lower limbs. NCS showed conduction block (CB) of the peroneal nerve at the fibular head that recovered in 29 patients within 3 weeks to 3 months. Severity of CB was correlated with clinical weakness. Three patients had abnormalities consistent with polyneuropathy (PNP). NCS in asymptomatic relatives confirmed familial neuropathy. Nerve biopsy and molecular study were consistent with hereditary neuropathy with liability to pressure palsies (HNPP). One of these peroneal palsies (6 months) recovered after neurolysis. Weight loss might be a risk factor in peroneal mononeuropathies. NCS is a tool in the diagnosis of the site and severity of the nerve injury. Testing should be considered for relatives of patients with PNP because peroneal mononeuropathies may be the first expression of HNPP. PMID:10905469

  14. Sixth cranial nerve palsy caused by compression from a dolichoectatic vertebral artery.

    PubMed

    Zhu, Ying; Thulborn, Keith; Curnyn, Kimberlee; Goodwin, James

    2005-06-01

    A 68-year-old man had an unremitting left sixth cranial nerve palsy immediately after completing a long bicycle trip. High-resolution (3 Tesla) magnetic resonance imaging disclosed a dolichoectatic vertebral artery that compressed the left sixth cranial nerve against the belly of the pons at its root exit zone. It was postulated that increased blood flow in the vessel during the unusually prolonged aerobic exercise precipitated the palsy. Compressive palsies of cranial nerves caused by a dolichoectatic basilar artery have often been documented; compressive palsy caused by a dolichoectatic vertebral artery is less well-recognized. PMID:15937439

  15. [Spontaneous dissection of the internal carotid artery: description of a case with lower cranial nerve palsy].

    PubMed

    Macarini, Luca; Zeppa, Pio; Genovese, Eugenio Annibale; Scialpi, Michele; Raucci, Antonio

    2012-11-01

    Spontaneous dissection of the extracranial internal carotid artery is a well recognized cause of headache and juvenile stroke; lower cranial nerve palsy as a complication of dissection is rare. We report the case of a female patient with bilateral dissecting aneurysm of the internal carotid artery, associated with unilateral cranial nerve XII palsy and oculosympathetic palsy. Neuroradiological findings, in particular those obtained by Magnetic Resonance imaging, allow the identification of the dissecting pathology and the correlation of the aneurysmal formation with nerve palsy. PMID:23096747

  16. Complete Oculomotor Nerve Palsy Caused by Direct Compression of the Posterior Cerebral Artery.

    PubMed

    Jo, Yoon-Sik; Kim, Shin Kyoung; Kim, Dae Ho; Kim, Jae-Hwan; Na, Sang-Jun

    2015-07-01

    Oculomotor nerve palsy frequently occurs because of external compression by an internal carotid-posterior communicating artery aneurysm and diabetes mellitus. In addition, pontine infarction, cavernous sinus tumors, demyelinating disease, and autoimmune disorder are well-known causes of oculomotor nerve palsy. However, cases of complete oculomotor nerve palsy by neurovascular conflicts presented with a sudden onset of clinical symptoms are extremely rare. We experienced a rare case of complete oculomotor nerve palsy because of direct vascular compression of the oculomotor nerve by the posterior cerebral artery. PMID:25939862

  17. Digital capture, design, and manufacturing of an extraoral device for a clarinet player with Bell's palsy.

    PubMed

    Aita-Holmes, Cynthia; Liacouras, Peter; Wilson, William O; Grant, Gerald T

    2015-08-01

    An extraoral device was fabricated to assist a clarinet player with Bell's palsy. The device was fabricated by using stereophotogrammetry, digital design, and additive manufacturing technologies. PMID:25985740

  18. Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

    PubMed

    Manganelli, Fiore; Tozza, Stefano; Pisciotta, Chiara; Bellone, Emilia; Iodice, Rosa; Nolano, Maria; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, Lucio

    2014-12-01

    The objective of this study is to assess the genetic distribution of Charcot-Marie-Tooth (CMT) disease in Campania, a region of Southern Italy. We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases. Genetic diagnosis was achieved in 148 patients (75.1%) with a higher success rate in HNPP and CMT1 than CMT2. Only four genes (PMP22, GJB1, MPZ, and GDAP1) accounted for 92% of all genetically confirmed CMT cases. In CMT1, PMP22 duplication was the most common mutation while the second gene in order of frequency was MPZ in familial and SH3TC2 in isolated cases. In CMT2, GJB1 was the most frequent mutated gene and GJB1 with GDAP1 accounted for almost 3/4 of genetically defined CMT2 patients. The first gene in order of frequency was GJB1 in familial and GDAP1 in isolated cases. In HNPP, the majority of patients harbored the PMP22 gene deletion. The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively. These epidemiological data can help in panel design for our patients' population. PMID:25429913

  19. Abnormal Junctions and Permeability of Myelin in PMP22-Deficient Nerves

    PubMed Central

    Guo, Jiasong; Wang, Leiming; Zhang, Yang; Wu, Jiawen; Arpag, Sezgi; Hu, Bo; Imhof, Beat A.; Tian, Xinxia; Carter, Bruce D.; Suter, Ueli; Li, Jun

    2014-01-01

    Objective The peripheral myelin protein-22 (PMP22) gene is associated with the most common types of inherited neuropathies, including hereditary neuropathy with liability to pressure palsies (HNPP) caused by PMP22 deficiency. However, the function of PMP22 has yet to be defined. Our previous study has shown that PMP22 deficiency causes an impaired propagation of nerve action potentials in the absence of demyelination. In the present study, we tested an alternative mechanism relating to myelin permeability. Methods Utilizing Pmp22+/− mice as a model of HNPP, we evaluated myelin junctions and their permeability using morphological, electrophysiological, and biochemical approaches. Results We show disruption of multiple types of cell junction complexes in peripheral nerve, resulting in increased permeability of myelin and impaired action potential propagation. We further demonstrate that PMP22 interacts with immunoglobulin domain–containing proteins known to regulate tight/adherens junctions and/or transmembrane adhesions, including junctional adhesion molecule-C (JAM-C) and myelin-associated glycoprotein (MAG). Deletion of Jam-c or Mag in mice recapitulates pathology in HNPP. Interpretation Our study reveals a novel mechanism by which PMP22 deficiency affects nerve conduction not through removal of myelin, but through disruption of myelin junctions. PMID:24339129

  20. Relationship between static postural control and the level of functional abilities in children with cerebral palsy

    PubMed Central

    Pavão, Sílvia L.; Nunes, Gabriela S.; Santos, Adriana N.; Rocha, Nelci A. C. F.

    2014-01-01

    Background: Postural control deficits can impair functional performance in children with cerebral palsy (CP) in daily living activities. Objective: To verify the relationship between standing static postural control and the functional ability level in children with CP. Method: The postural control of 10 children with CP (gross motor function levels I and II) was evaluated during static standing on a force platform for 30 seconds. The analyzed variables were the anteroposterior (AP) and mediolateral (ML) displacement of the center of pressure (CoP) and the area and velocity of the CoP oscillation. The functional abilities were evaluated using the mean Pediatric Evaluation of Disability Inventory (PEDI) scores, which evaluated self-care, mobility and social function in the domains of functional abilities and caregiver assistance. Results: Spearman's correlation test found a relationship between postural control and functional abilities. The results showed a strong negative correlation between the variables of ML displacement of CoP, the area and velocity of the CoP oscillation and the PEDI scores in the self-care and caregiver assistance domains. Additionally, a moderate negative correlation was found between the area of the CoP oscillation and the mobility scores in the caregiver assistance domain. We used a significance level of 5% (p <0.05). Conclusions: We observed that children with cerebral palsy with high CoP oscillation values had lower caregiver assistance scores for activities of daily living (ADL) and consequently higher levels of caregiver dependence. These results demonstrate the repercussions of impairments to the body structure and function in terms of the activity levels of children with CP such that postural control impairments in these children lead to higher requirements for caregiver assistance. PMID:25054383

  1. Bruxism control in a child with cerebral palsy.

    PubMed

    Oliveira, Cristiana Aroeira G R; de Paula, Viviane Andrade Cancio; Portela, Maristela Barbosa; Primo, Laura Salignac Guimarães; Castro, Gloria Fernanda

    2011-01-01

    Cerebral palsy (CP) is one of the most severe childhood disabilities due to a lesion in the developing brain. Oral conditions often observed in this pathogenic are a tendency for the delayed eruption of permanent molars, higher percentages of malocclusion and parafunctional habits, including bruxism. The significance of oral conditions observed in CP patients demonstrates the need for intensive home and professional care for these individuals. This paper presents a 7-year-old boy, with cerebral palsy, severe mental retardation, who had high abrasion wear of the primary teeth related to bruxism. Dental care was carried out under oxide-induced sedation, and management of the bruxism was achieved after the use of a resin acrylic protective appliance fixed on both sides of the mandibula. The treatment performed offered efficiency advantages, was clinically viable, and should be a valuable option to practitioners considering appliance therapy to control parafunctional behavior. PMID:21991456

  2. Trends in communicative access solutions for children with cerebral palsy.

    PubMed

    Myrden, Andrew; Schudlo, Larissa; Weyand, Sabine; Zeyl, Timothy; Chau, Tom

    2014-08-01

    Access solutions may facilitate communication in children with limited functional speech and motor control. This study reviews current trends in access solution development for children with cerebral palsy, with particular emphasis on the access technology that harnesses a control signal from the user (eg, movement or physiological change) and the output device (eg, augmentative and alternative communication system) whose behavior is modulated by the user's control signal. Access technologies have advanced from simple mechanical switches to machine vision (eg, eye-gaze trackers), inertial sensing, and emerging physiological interfaces that require minimal physical effort. Similarly, output devices have evolved from bulky, dedicated hardware with limited configurability, to platform-agnostic, highly personalized mobile applications. Emerging case studies encourage the consideration of access technology for all nonverbal children with cerebral palsy with at least nascent contingency awareness. However, establishing robust evidence of the effectiveness of the aforementioned advances will require more expansive studies. PMID:24820337

  3. Complete Spinal Accessory Nerve Palsy From Carrying Climbing Gear.

    PubMed

    Coulter, Jess M; Warme, Winston J

    2015-09-01

    We report an unusual case of spinal accessory nerve palsy sustained while transporting climbing gear. Spinal accessory nerve injury is commonly a result of iatrogenic surgical trauma during lymph node excision. This particular nerve is less frequently injured by blunt trauma. The case reported here results from compression of the spinal accessory nerve for a sustained period-that is, carrying a load over the shoulder using a single nylon rope for 2.5 hours. This highlights the importance of using proper load-carrying equipment to distribute weight over a greater surface area to avoid nerve compression in the posterior triangle of the neck. The signs and symptoms of spinal accessory nerve palsy and its etiology are discussed. This report is particularly relevant to individuals involved in mountaineering and rock climbing but can be extended to anyone carrying a load with a strap over one shoulder and across the body. PMID:25937552

  4. Surgically mismanaged ptosis associated with double elevator palsy.

    PubMed

    Callahan, M A

    1981-01-01

    The primary goal in mismanaged as well as untreated cases of combined double elevator muscle palsy and ptosis is alleviation of the paretic ocular motor imbalance to correct pseudoptosis, followed, if necessary, by levator resection to correct any residual true ptosis component. The great hypotropia often found in double elevator muscle palsy should be corrected, preferably by a muscle transposition procedure combined, in certain cases, with inferior rectus muscle recession if the inferior rectus muscle has contracted. Only in young patients can these two surgical procedures be safely combined, particularly if it is desirable to decrease the number of general anesthetics that the patient must take. Only after proper management of the paretic strabismus should the levator be resected, because, in certain cases, extraocular muscle surgery will completely abolish the upper lid ptosis. PMID:7458735

  5. [Etiologies of cerebral palsy and classical treatment possibilities].

    PubMed

    Maurer, Ute

    2002-01-01

    Cerebral palsy is a non-progressive disorder of the developing brain with different etiologies in the pre-, peri- or postnatal period. The most important of these diseases is cystic periventricular leukomalacia (PVL), followed by intra- and periventricular hemorrhage, hypoxic-ischemic encephalopathy, vascular disorders, infections or brain malformations. The underlying cause is always a damage of the first motor neuron. Prevalence of cerebral palsy in Europe is 2-3 per 1000 live births with a broad spectrum in different birth weight groups. Our own data concerning only pre-term infants in the NICU with birth weight below 1500 g (VLBW) are between 10%-20%. Established classical treatment methods include physiotherapy (Bobath, Vojta, Hippotherapy), methods of speech and occupational therapists (Castillo-Morales, Sensory Integration) and other therapeutical concepts (Petö, Affolter, Frostig). PMID:11862678

  6. Gait energy efficiency in children with cerebral palsy.

    PubMed

    Rosen, Sarah; Tucker, Carole A; Lee, Samuel C K

    2006-01-01

    Children with cerebral palsy (CP) expend up to three times the energy required for ambulation as compared to typically developed children of the same age. Measuring the metabolic energy required to execute a task is an intuitively appealing way to quantify task efficiency. Task energy demand is often quantified through pulmonary tests that measure oxygen consumption. Although providing an accepted measure of energy demand, these tests are technically demanding and staff intensive. For this reason, we sought a measure of gait efficiency based on spatiotemporal and kinematic parameters that would be reflective of the energy cost during ambulation in children with cerebral palsy. Gait data from 18 subjects with CP over 30 separate data collection sessions was used. Statistical analysis showed oxygen cost highly correlates to several kinematic variables, most notably, pelvic tilt, walking speed, landing angle and the biomechanical efficiency quotient (BEQ). The results of the work support the development of a computational model that would capture gait energy efficiency. PMID:17946881

  7. Clinical Trial of Erythropoietin in Young Children With Cerebral Palsy.

    PubMed

    Cho, Kye Hee; Min, Kyunghoon; Lee, Seung Hoon; Lee, SunHee; An, SeongSoo A; Kim, MinYoung

    2016-09-01

    This study was conducted to assess the safety and efficacy of recombinant human erythropoietin in young children with cerebral palsy aged between 6 months and 3 years. All participants received subcutaneous recombinant human erythropoietin and 8 weeks of rehabilitation therapy. Adverse events, changes of vital signs, and hematologic tests were monitored up to 8 weeks postinjection. Functional measures of development at 4 and 8 weeks postinjection were compared with baseline values, and improvements were compared with those of an age-matched historical control group. Nine participants completed the trial from June 2012 to February 2015. No adverse events were related to recombinant human erythropoietin. Erythropoiesis was noted, although within normal range. Functional improvements were observed in all participants (P < .05) and increases in motor function were higher in recombinant human erythropoietin group than the control group. Accordingly, recombinant human erythropoietin administration was safe without any significant adverse events and improved the functional outcomes in young children with cerebral palsy. PMID:27233796

  8. Cerebral Palsy: A Lifelong Challenge Asks for Early Intervention

    PubMed Central

    Panteliadis, Christos P; Hagel, Christian; Karch, Dieter; Heinemann, Karl

    2015-01-01

    One of the oldest and probably well-known examples of cerebral palsy is the mummy of the Pharaoh Siptah about 1196–1190 B.C., and a letter from Hippocrates (460–390 B.C.). Cerebral palsy (CP) is one of the most common congenital or acquired neurological impairments in paediatric patients, and refers to a group of children with motor disability and related functional defects. The visible core of CP is characterized by abnormal coordination of movements and/or muscle tone which manifest very early in the development. Resulting from pre- or perinatal brain damage CP is not a progressive condition per se. However, without systematic medical and physiotherapeutic support the dystonia leads to muscle contractions and to deterioration of the handicap. Here we review the three general spastic manifestations of CP hemiplegia, diplegia and tetraplegia, describe the diagnostic procedures and delineate a time schedule for an early intervention. PMID:26191093

  9. Update On Stem Cell Therapy For Cerebral Palsy

    PubMed Central

    Carroll, James E; Mays, Robert W

    2011-01-01

    Introduction Due to the publicity about stem cell transplantation for the treatment of cerebral palsy, many families seek information on treatment, and many travel overseas for cell transplantation. Even so, there is little scientific confirmation of benefit, and therefore existing knowledge in the field must be summarized. Areas covered This paper addresses the clinical protocols examining the problem, types of stem cells available for transplant, experimental models used to test the benefit of the cells, possible mechanisms of action, potential complications of cell treatment, and what is needed in the field to help accelerate cell-based therapies. Expert Opinion While stem cells may be beneficial in acute injuries of the central nervous system, the biology of stem cells is not well enough understood in chronic injuries or disorders such as cerebral palsy. More work is required at the basic level of stem cell biology, in the development of animal models, and finally in well-conceived clinical trials. PMID:21299445

  10. Lithium-Induced Downbeat Nystagmus and Horizontal Gaze Palsy.

    PubMed

    Jørgensen, Jesper Skovlund; Landschoff Lassen, Lisbeth; Wegener, Marianne

    2016-01-01

    We report a case of lithium-induced downbeat nystagmus and horizontal gaze palsy in a 62-year-old woman who was treated for a bipolar affective disorder with lithium carbonate for one month. At presentation serum lithium was within therapeutic range. No alternative causes of the ocular motility disturbances were found, and the patient improved significantly as lithium carbonate was discontinued. PMID:27347248

  11. Grip Force Coordination during Bimanual Tasks in Unilateral Cerebral Palsy

    ERIC Educational Resources Information Center

    Islam, Mominul; Gordon, Andrew M.; Skold, Annika; Forssberg, Hans; Eliasson, Ann-Christin

    2011-01-01

    Aim: The aim of the study was to investigate coordination of fingertip forces during an asymmetrical bimanual task in children with unilateral cerebral palsy (CP). Method: Twelve participants (six males, six females; mean age 14y 4mo, SD 3.3y; range 9-20y;) with unilateral CP (eight right-sided, four left-sided) and 15 age-matched typically…

  12. Cognitive Profile in Young Icelandic Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Sigurdardottir, Solveig; Eiriksdottir, Audur; Gunnarsdottir, Eva; Meintema, Marrit; Arnadottir, Unnur; Vik, Torstein

    2008-01-01

    We describe the cognitive profile in a complete national cohort of children with cerebral palsy (CP). One hundred and twenty-seven Icelandic children (67 females, 60 males) with CP, born between 1985 and 2000 and assessed between the ages of 4 and 6 years 6 months (mean age 5y 5mo, SD 6mo), were included in the study. IQ was measured using the…

  13. The Effectiveness of Neural Therapy in Patients With Bell's Palsy.

    PubMed

    Yavuz, Ferdi; Kelle, Bayram; Balaban, Birol

    2016-06-01

    This report describes the case of a 42-y-old man with a type of facial nerve palsy of the lower motor neurons (LMNs) on the right side, who was treated with neural therapy. After exposure to cold weather, the patient had suddenly developed difficulty in closing his right eye and a deviation to the left in the angle of his mouth. He had no previous medical illness and had no history of trauma, smoking, alcohol intake, or blood transfusion. PMID:27547166

  14. Lithium-Induced Downbeat Nystagmus and Horizontal Gaze Palsy

    PubMed Central

    Jørgensen, Jesper Skovlund; Landschoff Lassen, Lisbeth; Wegener, Marianne

    2016-01-01

    We report a case of lithium-induced downbeat nystagmus and horizontal gaze palsy in a 62-year-old woman who was treated for a bipolar affective disorder with lithium carbonate for one month. At presentation serum lithium was within therapeutic range. No alternative causes of the ocular motility disturbances were found, and the patient improved significantly as lithium carbonate was discontinued. PMID:27347248

  15. Treatment of the spasticity in children with cerebral palsy.

    PubMed

    Meholjić-Fetahović, Ajsa

    2007-11-01

    Botulinum toxin is a natural purified protein and one of the strongest biological poisons--neurotoxin. It is produced by the bacterium Clostridium botulinum. Its medical usage started in USA in 1981 and in Europe in 1992. There are seven different immune types of the toxin: A, B, C1, D, E, F and G. Toxin types A and B are used to decrease muscular spasticity. Botulinum toxin prevents the formation of acetylcholine from cholinergic nerve tissues in muscles, which in the end irreversibly destroys neuromuscular synapses. It is called temporary local chemodenervation. It does not affect the synthesis of acetylcholine. As it affects neuromuscular bond it also affects one of the symptoms of cerebral palsy--spasticity. Decreasing the spasticity of children with cerebral palsy leads to the improvement of conscious movements, muscles are less toned, passive mobility is improved, orthosis tolerance is also improved, and the child is enabled to perform easier and better motor functions such as crawling, standing and walking. Since the action of Botulinum toxin is limited to 2-6 months, new neural collaterals are formed and neuromuscular conductivity is reestablished which in the end once again develops a muscular spasm. This leads to a conclusion that botulinum toxin should again be applied into spastic muscles. It is very important for good effect of Botulinum toxin to set the goals of the therapy in advance. The goals include improvement of a function, prevention of contractions and deformities, ease of care and decrease of pain for children with cerebral palsy. After application of botulinum toxin, it is necessary to perform adequate and intensive physical treatment with regular monitoring of effects. This work shows a case of a boy with spastic form of cerebral palsy. After being rehabilitated using Vojta therapy and Bobath concept and the conduct of certain physical procedures, botulinum toxin is administered into his lower limbs' muscles and kinesiotherapy is

  16. Isolated sixth nerve palsy secondary to spontaneous intracranial hypotension.

    PubMed

    Khemka, S; Mearza, A A

    2006-11-01

    We report the case of a 43-year-old gentleman who presented with an isolated left sixth nerve palsy in association with postural headache. Magnetic resonance imaging showed dural enhancement with downward displacement of the brainstem. This, in association with the signs, symptoms and findings on lumbar puncture, confirmed the diagnosis of spontaneous intracranial hypotension. Treatment was successful with epidural blood patching. The case is discussed and the relevant literature reviewed. PMID:17038044

  17. Sciatic Nerve Palsy Caused by Ruptured and Contracted Short External Rotator Muscles after Primary Total Hip Arthroplasty

    PubMed Central

    Park, Jong-Seok; Hong, Chang-Hwa; Soh, Jae-Wan; Nho, Jae-Hwi; Suh, You-Sung; Lee, Hwan-Woong

    2015-01-01

    Although the incidence of sciatic nerve palsy following total hip arthroplasty is low, this complication can cause devastating permanent nerve palsy. The authors experienced a case of sciatic nerve palsy caused by ruptured and contracted external rotator muscles following total hip arthroplasty in a patient suffering from osteonecrosis of the femoral head. We report this unusual case of sciatic nerve palsy with a review of the literature.

  18. A Diagnostic Approach for Cerebral Palsy in the Genomic Era

    PubMed Central

    Lee, Ryan W.; Poretti, Andrea; Cohen, Julie S.; Levey, Eric; Gwynn, Hilary; Johnston, Michael V.; Hoon, Alexander H.; Fatemi, Ali

    2014-01-01

    An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging (MRI) of the brain has been of great benefit in “unmasking” many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic and ataxic phenotypes, with the intent to highlight the time honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families. PMID:25280894

  19. Intrathecal baclofen for management of spastic cerebral palsy: multicenter trial.

    PubMed

    Gilmartin, R; Bruce, D; Storrs, B B; Abbott, R; Krach, L; Ward, J; Bloom, K; Brooks, W H; Johnson, D L; Madsen, J R; McLaughlin, J F; Nadell, J

    2000-02-01

    Intrathecal baclofen infusion has demonstrated effectiveness in decreasing spasticity of spinal origin. Oral antispasticity medication is minimally effective or not well tolerated in cerebral palsy. This study assessed the effectiveness of intrathecal baclofen in reducing spasticity in cerebral palsy. Candidates were screened by randomized, double-blind, intrathecal injections of baclofen and placebo. Responders were defined as those who experienced an average reduction of 1.0 in the lower extremities on the Ashworth Scale for spasticity. Responders received intrathecal baclofen via the SynchroMed System and were followed for up to 43 months. Fifty-one patients completed screening and 44 entered open-label trials. Lower-extremity spasticity decreased from an average baseline score of 3.64 to 1.90 at 39 months. A decrease in upper extremity spasticity was evidenced over the same study period. Forty-two patients reported adverse events. Most common reports were hypotonia, seizures (no new onset), somnolence, and nausea or vomiting. Fifty-nine percent of the patients experienced procedural or system-related events. Spasticity in patients with cerebral palsy can be treated effectively by continuous intrathecal baclofen. Adverse events, although common, were manageable. PMID:10695888

  20. Food pattern and nutritional status of children with cerebral palsy

    PubMed Central

    Lopes, Patrícia Ayrosa C.; Amancio, Olga Maria S.; Araújo, Roberta Faria C.; Vitalle, Maria Sylvia de S.; Braga, Josefina Aparecida P.

    2013-01-01

    OBJECTIVES To assess the food intake pattern and the nutritional status of children with cerebral palsy. METHODS Cross-sectional study with 90 children from two to 12.8 years with cerebral palsy in the following forms: hemiplegia, diplegia, and tetraplegia. Nutritional status was assessed by weight, height, and age data. Food intake was verified by the 24-hour recall and food frequency questionnaire. The ability to chew and/or swallowing, intestinal habits, and physical activity were also evaluated. RESULTS For 2-3 year-old age group, the mean energy intake followed the recommended range; in 4-6 year-old age group with hemiplegia and tetraplegia, energy intake was below the recommended limits. All children presented low intake of carbohydrates, adequate intake of proteins and high intake of lipids. The tetraplegia group had a higher prevalence of chewing (41%) and swallowing (12.8%) difficulties compared to 14.5 and 6.6% of children with hemiplegia, respectively. Most children of all groups had a daily intestinal habit. All children presented mild physical activity, while moderate activity was not practiced by any child of the tetraplegia group, which had a significantly lower height/age Z score than those with hemiplegia (-2.14 versus -1.05; p=0.003). CONCLUSIONS The children with cerebral palsy presented inadequate dietary pattern and impaired nutritional status, with special compromise of height. Tetraplegia imposes difficulties regarding chewing/swallowing and moderate physical activity practice. PMID:24142317

  1. Esophageal eosinophilia in pediatric patients with cerebral palsy

    PubMed Central

    de Nápolis, Ana Carolina Ramos; Alves, Flavia Araujo; Rezende, Erica Rodrigues Mariano de Almeida; Segundo, Gesmar Rodrigues Silva

    2015-01-01

    ABSTRACT Objective: To describe the clinical picture, test results, and clinical evolution of patients with cerebral palsy associated with diagnosis of eosinophilic esophagitis, monitored at tertiary centre. Methods: Cross-sectional, retrospective and descriptive study that evaluated the medical records data of pediatric patients with diagnosis of cerebral palsy and eosinophilic esophagitis in a tertiary center of pediatric gastroenterology between August 2005 and August 2013. Results: Seven out of 131 patients with cerebral palsy had the diagnosis of eosinophilic esophagitis. The mean age at diagnosis of eosinophilic esophagitis was 52.3 months and the mean number of eosinophils in esophagus was 35 per high-power field. Symptoms more frequent were recurrent vomiting and disphagia. Endoscopic alterations found were mucosal thickening, vertical lines, mucosal opacificacion and white plaques. Conclusion: The frequency of eosinophilic esophagitis found was higher than in general pediatric population. The investigation of eosinophilic esophagitis should be done regularly in those patients, once this entity could overlap other gastrointestinal diseases. PMID:26154544

  2. Hereditary neuropathy.

    PubMed

    Heidenreich, Wayne F

    2010-01-01

    A 58-year-old male presented with a history of slowly progressive bilateral hand weakness manifested by decreased grip strength and pinch strength associated with some pain in the first metacarpal-carpal joints with atrophy of the muscles of the web space. An evaluation based on history, physical exam, and judicious diagnostic testing yielded a finding of motor and sensory peripheral polyneuropathy and a working diagnosis of hereditary nerve pressure palsy syndrome (HNPP) or hereditary neuropathy with liability to pressure palsies. The clinical findings and diagnostic tests for sensory and motor peripheral neuropathy are discussed. The case details over time, hereditary features, and the natural history of this disorder lead to a favorable clinical and insurance medicine prognosis. PMID:21290997

  3. Volumetric Magnetic Resonance Imaging Study of Brain and Cerebellum in Children with Cerebral Palsy

    PubMed Central

    Maciorkowska, Elżbieta; Gościk, Elżbieta

    2016-01-01

    Introduction. Quantitative magnetic resonance imaging (MRI) studies are rarely used in the diagnosis of patients with cerebral palsy. The aim of present study was to assess the relationships between the volumetric MRI and clinical findings in children with cerebral palsy compared to control subjects. Materials and Methods. Eighty-two children with cerebral palsy and 90 age- and sex-matched healthy controls were collected. Results. The dominant changes identified on MRI scans in children with cerebral palsy were periventricular leukomalacia (42%) and posthemorrhagic hydrocephalus (21%). The total brain and cerebellum volumes in children with cerebral palsy were significantly reduced in comparison to controls. Significant grey matter volume reduction was found in the total brain in children with cerebral palsy compared with the control subjects. Positive correlations between the age of the children of both groups and the grey matter volumes in the total brain were found. Negative relationship between width of third ventricle and speech development was found in the patients. Positive correlations were noted between the ventricles enlargement and motor dysfunction and mental retardation in children with cerebral palsy. Conclusions. By using the voxel-based morphometry, the total brain, cerebellum, and grey matter volumes were significantly reduced in children with cerebral palsy. PMID:27579318

  4. European study of frequency of participation of adolescents with and without cerebral palsy

    PubMed Central

    Michelsen, Susan I.; Flachs, Esben M.; Damsgaard, Mogens T.; Parkes, Jacqueline; Parkinson, Kathryn; Rapp, Marion; Arnaud, Catherine; Nystrand, Malin; Colver, Allan; Fauconnier, Jerome; Dickinson, Heather O.; Marcelli, Marco; Uldall, Peter

    2014-01-01

    Children with cerebral palsy participate less in everyday activities than children in the general populations. During adolescence, rapid physical and psychological changes occur which may be more difficult for adolescents with impairments. Within the European SPARCLE project we measured frequency of participation of adolescents with cerebral palsy by administering the Questionnaire of Young People's Participation to 667 adolescents with cerebral palsy or their parents from nine European regions and to 4666 adolescents from the corresponding general populations. Domains and single items were analysed using respectively linear and logistic regression. Adolescents with cerebral palsy spent less time with friends and had less autonomy in their daily life than adolescents in the general populations. Adolescents with cerebral palsy participated much less in sport but played electronic games at least as often as adolescents in the general populations. Severity of motor and intellectual impairment had a significant impact on frequency of participation, the more severely impaired being more disadvantaged. Adolescents with an only slight impairment participated in some domains as often as adolescents in the general populations. Regional variation existed. For example adolescents with cerebral palsy in central Italy were most disadvantaged according to decisional autonomy, while adolescents with cerebral palsy in east Denmark and northern England played sports as often as their general populations. Participation is an important health outcome. Personal and environmental predictors of participation of adolescents with cerebral palsy need to be identified in order to design interventions directed to such predictors; and in order to inform the content of services. PMID:24412031

  5. Services for Children with Cerebral Palsy; A Guide for Public Health Personnel.

    ERIC Educational Resources Information Center

    American Public Health Association, Inc., New York, NY. Program Area Committee on Child Health.

    Directed to persons in voluntary or official agencies and to planning groups whose decisions determine or affect the extent, coverage, content, and operation of community services to children who are handicapped by cerebral palsy, this guide has as its objectives (1) to present background information on cerebral palsy as it affects the individual…

  6. The Early Needs of Children with Cerebral Palsy: A Comprehensive View.

    ERIC Educational Resources Information Center

    Blackman, James A.; Healy, Alfred

    Intended for professionals and parents, this monograph focuses on the service needs of young children with cerebral palsy. Section I presents an overview of cerebral palsy, including etiology, incidence, and history of management. Section II describes service needs in the following areas: prevention; early identification; treatment; the…

  7. The Relationship between Quality of Life and Functioning for Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Shelly, A.; Davis, E.; Waters, E.; Mackinnon, A.; Reddihough, D.; Boyd, R.; Reid, S.; Graham, H. K.

    2008-01-01

    Given that quality of life (QOL) is commonly confused with functioning, the aim of this study was to examine the association between functioning and QOL domains for children with cerebral palsy (CP). Two hundred and five parents of children aged 4 to 12 years with CP and 53 children aged 9 to 12 years with CP, completed the Cerebral Palsy Quality…

  8. Australia and the Australian Cerebral Palsy Register for the birth cohort 1993 to 2006.

    PubMed

    2016-02-01

    This is a brief background paper for a supplementary issue of Developmental Medicine & Child Neurology by the Australian Cerebral Palsy Register Group. It provides context for the reader of the supplement including a description of the establishment and development of state and territory cerebral palsy registers in Australia. PMID:26806361

  9. Intensive Dysarthria Therapy for Older Children with Cerebral Palsy: Findings from Six Cases

    ERIC Educational Resources Information Center

    Pennington, Lindsay; Smallman, Claire; Farrier, Faith

    2006-01-01

    Children with cerebral palsy often have speech, language and communication difficulties that affect their access to social and educational activities. Speech and language therapy to improve the intelligibility of the speech of children with cerebral palsy has long been advocated, but there is a dearth of research investigating therapy…

  10. Psychological Problems in Children with Cerebral Palsy: A Cross-Sectional European Study

    ERIC Educational Resources Information Center

    Parkes, Jackie; White-Koning, Melanie; Dickinson, Heather O.; Thyen, Ute; Arnaud, Catherine; Beckung, Eva; Fauconnier, Jerome; Marcelli, Marco; McManus, Vicki; Michelsen, Susan I.; Parkinson, Kathryn; Colver, Allan

    2008-01-01

    Objectives: To describe psychological symptoms in 8-12-year-old children with cerebral palsy; to investigate predictors of these symptoms and their impact on the child and family. Design: A cross-sectional multi-centre survey. Participants: Eight hundred and eighteen children with cerebral palsy, aged 8-12 years, identified from population-based…

  11. Handling the Cerebral Palsied Child: Multi-Level Skills Transfer in Pakistan.

    ERIC Educational Resources Information Center

    Miles, M.; Frizzell, Yvonne

    1990-01-01

    The majority of children with cerebral palsy in developing countries have no access to trained therapists; for example, in Pakistan, there is less than one trained general physiotherapist per million population. In Pakistan, cerebral palsy handling skills were taught to a group of parents, teachers, and paraprofessionals in a series of practical…

  12. "I Do Lots of Things": Children with Cerebral Palsy's Competence for Everyday Activities

    ERIC Educational Resources Information Center

    Kramer, Jessica M.; Hammel, Joy

    2011-01-01

    This study explored how children with cerebral palsy describe competent performance in everyday activities and sought to better understand the processes by which the children developed competence. Five children with cerebral palsy aged six to 17 years participated in a three-step procedure that included two observations, one semi-structured…

  13. Volumetric Magnetic Resonance Imaging Study of Brain and Cerebellum in Children with Cerebral Palsy.

    PubMed

    Kułak, Piotr; Maciorkowska, Elżbieta; Gościk, Elżbieta

    2016-01-01

    Introduction. Quantitative magnetic resonance imaging (MRI) studies are rarely used in the diagnosis of patients with cerebral palsy. The aim of present study was to assess the relationships between the volumetric MRI and clinical findings in children with cerebral palsy compared to control subjects. Materials and Methods. Eighty-two children with cerebral palsy and 90 age- and sex-matched healthy controls were collected. Results. The dominant changes identified on MRI scans in children with cerebral palsy were periventricular leukomalacia (42%) and posthemorrhagic hydrocephalus (21%). The total brain and cerebellum volumes in children with cerebral palsy were significantly reduced in comparison to controls. Significant grey matter volume reduction was found in the total brain in children with cerebral palsy compared with the control subjects. Positive correlations between the age of the children of both groups and the grey matter volumes in the total brain were found. Negative relationship between width of third ventricle and speech development was found in the patients. Positive correlations were noted between the ventricles enlargement and motor dysfunction and mental retardation in children with cerebral palsy. Conclusions. By using the voxel-based morphometry, the total brain, cerebellum, and grey matter volumes were significantly reduced in children with cerebral palsy. PMID:27579318

  14. Effect of Translucency on Transparency and Symbol Learning for Children with and without Cerebral Palsy

    ERIC Educational Resources Information Center

    Huang, Chih-Hsiung; Chen, Ming-Chung

    2011-01-01

    Based on the concept of iconicity, the iconicity hypothesis was emphasized for decades. The aims of this study were to explore the effect of translucency on transparency and symbol learning for children with and without cerebral palsy. Twenty children with cerebral palsy and forty typical peers participated in the study. Ten symbols with high…

  15. Electropalatography in the Description and Treatment of Speech Disorders in Five Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Nordberg, Ann; Carlsson, Goran; Lohmander, Anette

    2011-01-01

    Some children with cerebral palsy have articulation disorders that are resistant to conventional speech therapy. The aim of this study was to investigate whether the visual feedback method of electropalatography (EPG) could be an effective tool for treating five children (mean age of 9.4 years) with dysarthria and cerebral palsy and to explore…

  16. Treadmill Training in a Child with Cerebral Palsy: A Case Report

    ERIC Educational Resources Information Center

    Crowley, Julie P.; Arnold, Sandra H.; McEwen, Irene R.; James, Shirley

    2009-01-01

    This case report describes the use of treadmill training without body weight support to improve walking speed in a child with diplegic cerebral palsy. The child was a six-year-old girl with spastic diplegic cerebral palsy. She walked short distances independently using a posterior support walker but was unable to keep up with her peers walking…

  17. Theory of Mind and Irony Comprehension in Children with Cerebral Palsy

    ERIC Educational Resources Information Center

    Caillies, Stephanie; Hody, Anais; Calmus, Arnaud

    2012-01-01

    The main goal of the present study was to characterise the pragmatic abilities of French children with cerebral palsy through their understanding of irony and other people's mental states. We predicted that children with cerebral palsy would have difficulty understanding false-belief and ironic remarks, due to the executive dysfunction that…

  18. Arithmetic Difficulties in Children with Cerebral Palsy Are Related to Executive Function and Working Memory

    ERIC Educational Resources Information Center

    Jenks, Kathleen M.; de Moor, Jan; van Lieshout, Ernest C. D. M.

    2009-01-01

    Background: Although it is believed that children with cerebral palsy are at high risk for learning difficulties and arithmetic difficulties in particular, few studies have investigated this issue. Methods: Arithmetic ability was longitudinally assessed in children with cerebral palsy in special (n = 41) and mainstream education (n = 16) and…

  19. Communicating about Loss: Experiences of Older Australian Adults with Cerebral Palsy and Complex Communication Needs

    ERIC Educational Resources Information Center

    Dark, Leigha; Balandin, Susan; Clemson, Lindy

    2011-01-01

    Loss and grief is a universal human experience, yet little is known about how older adults with a lifelong disability, such as cerebral palsy, and complex communication needs (CCN) experience loss and manage the grieving process. In-depth interviews were conducted with 20 Australian participants with cerebral palsy and CCN to determine the types…

  20. Understanding Mealtime Changes for Adults with Cerebral Palsy and the Implications for Support Services

    ERIC Educational Resources Information Center

    Balandin, Susan; Hemsley, Bronwyn; Hanley, Leah; Sheppard, Justine Joan

    2009-01-01

    Background: Changes in the swallowing capabilities of adults with cerebral palsy as they age may impact on their health, safety, and well-being. Method: Thirty-two adults with cerebral palsy aged between 30 and 69 years participated in in-depth interviews about their experiences of changes in their swallowing and related management of their…

  1. Effects of Frequency of Feedback on the Learning of Motor Skill in Individuals with Cerebral Palsy

    ERIC Educational Resources Information Center

    Hemayattalab, Rasool; Rostami, Leila Rashidi

    2010-01-01

    The purpose of this study was to investigate the effect of frequency of knowledge of results (KR) on the learning of dart in individuals with cerebral palsy type I. Twenty-four individuals with cerebral palsy (CP) between the ages of 5 and 17 were chosen for this study. They were put into 3 homogenous groups according to their records after 20…

  2. The Cerebral Palsy Quality of Life for Children (CP QOL-Child): Evidence of Construct Validity

    ERIC Educational Resources Information Center

    Chen, Kuan-Lin; Wang, Hui-Yi; Tseng, Mei-Hui; Shieh, Jeng-Yi; Lu, Lu; Yao, Kai-Ping Grace; Huang, Chien-Yu

    2013-01-01

    The Cerebral Palsy Quality of Life for Children (CP QOL-Child) is the first health condition-specific questionnaire designed for measuring QOL in children with cerebral palsy (CP). However, its construct validity has not yet been confirmed by confirmatory factor analysis (CFA). Hence, this study assessed the construct validity of the caregiver…

  3. Position as a Cause of Deformity in Children with Cerebral Palsy (1976)

    ERIC Educational Resources Information Center

    Scrutton, David

    2008-01-01

    Deformities in the child with cerebral palsy have been ascribed to muscle imbalance (Sharrard 1961) and increased tone (Pollock 1959) or to the type of cerebral palsy (Bobath and Bobath 1975). As far as we know, the position in which the child is nursed, especially during the first year of life, has not been considered as a cause of deformity. It…

  4. Bell's Palsy in Children: Role of the School Nurse in Early Recognition and Referral

    ERIC Educational Resources Information Center

    Gordon, Shirley C.

    2008-01-01

    Bell's palsy is the most common condition affecting facial nerves. It is an acute, rapidly progressing, idiopathic, unilateral facial paralysis that is generally self-limiting and non-life threatening that occurs in all age groups (Okuwobi, Omole, & Griffith, 2003). The school nurse may be the first person to assess facial palsy and muscle…

  5. The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

    PubMed

    Sinkiewicz-Darol, Elena; Kabzińska, Dagmara; Moszyńska, Izabela; Kochański, Andrzej

    2010-01-01

    Little is known about the molecular background of clinical variability of Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively. In a series of studies performed on affected animal transgenic models of CMT1A disease, expression of the PMP22 gene (gene dosage) was shown to correlete with severity of CMT course (gene dosage effect). In this study we hypothesized that single nucleotide polymorphisms (SNPs) located within the 5' regulatory sequence of PMP22 gene may be responsible for the CMT1A/HNPP clinical variability. We have sequenced the PMP22 5' upstream regulatory sequence in a group of 45 CMT1A/HNPP patients harboring the PMP22 duplication (37) /deletion (8). We have identified five SNPs in the regulatory sequence of the PMP22 gene. Three of them i.e. -819C>T, -4785G>T, -4800C>T were detected both in the patients and in the control group. Thus, their pathogenic role in the regulation of the expression of the PMP22 gene seems not to be significant. Two SNPs i.e. -4210T>C and -4759T>A were found only in the CMT patients. Their role in the regulation of the PMP22 gene expression can not be excluded. Additionally we have detected the Thr118Met variant in exon 4 of the PMP22 gene, which was previously reported by other authors, in one patient. We conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect. PMID:20842290

  6. Contralateral diaphragmatic palsy after subcortical middle cerebral artery infarction without capsular involvement.

    PubMed

    Wu, Meng-Ni; Chen, Po-Nien; Lai, Chiou-Lian; Liou, Li-Min

    2011-06-01

    Diaphragmatic palsy after acute stroke is a novel clinical entity and may result in a high incidence of respiratory dysfunction and pneumonia, which especially cause greater morbidity and mortality. Generally, internal capsule and complete middle cerebral artery (MCA) infarctions are major risk-factors for developing diaphragmatic palsy. Herein, we present a case with contralateral diaphragmatic palsy after a subcortical MCA infarction without capsular involvement. Dyspnea occurred after stroke, while a chest X-ray and CT study disclosed an elevated right hemidiaphragm without significant infiltration or patch of pneumonia. A phrenic nerve conduction study showed bilateral mild prolonged onset-latency without any significant right-left difference. This suggested a lesion causing diaphragmatic palsy was not in the phrenic nerve itself, but could possibly originate from an above central location (subcortical MCA infarction). We also discussed the role of transcranial magnetic stimulation study in the survey of central pathway and demonstrated diaphragmatic palsy-related orthopnea. PMID:21365293

  7. The Comparison of Malocclusion Prevalence Between Children with Cerebral Palsy and Healthy Children.

    PubMed

    Bakarcić, Danko; Lajnert, Vlatka; Maricić, Barbara Mady; Jokić, Nataga Ivancić; Vrancić, Zlatka Roksandić; Grzić, Renata; Prpić, Igor

    2015-09-01

    This study sets out to examine the prevalence of malocclusion and habits in a group of children with cerebral palsy and to compare it with a control group of healthy children. The presence of an anterior open bite was statistically significantly higher in the cerebral palsied group. The presence of aposterior crossbite was not significantly different between the examined groups, as was the case for a lingual crossbite. The occurrence of visceral swallowing, incompetent lips and oral respiration was significantly higher in the cerebral palsied group. The current study cannot satisfactorily sustain the issue of a higher prevalence of posterior and lingual crossbite in children with cerebral palsy because of no significant differences between groups, but it certainly can for an anterior openbite. The present study also adds to the evidence that there is an increased prevalence of oral breathing, visceral swallowing and lip incompetence in children with cerebral palsy. PMID:26898063

  8. Reversible facial nerve palsy due to parotid abscess☆☆☆

    PubMed Central

    Hajiioannou, Jiannis K.; Florou, Vasiliki; Kousoulis, Panagiotis; Kretzas, Dimitris; Moshovakis, Eustratios

    2013-01-01

    INTRODUCTION A facial nerve palsy combined with parotid enlargement usually suggests malignancy. It is highly unusual for facial nerve palsy to result from a benign situation such as inflammation or infection of the gland. PRESENTATION OF CASE We present a rare case of facial nerve palsy due to parotid abscess. DISCUSSION A literature search retrieved thirty-two cases of facial nerve palsy due to benign parotid lesions since 1969. Only nine reported the presence of a parotid abscess. The etiology of paralysis remains unknown although certain factors such as the virulence of the offending organisms or perineuritis, have been suggested. Best diagnostic evaluation and management are discussed. CONCLUSION In clinical practice, exclusion of malignancy is mandatory, as it represents the most common cause of facial palsy in the presence of a parotid lump. PMID:24096025

  9. Risk Factor Analysis for C5 Palsy after Double-Door Laminoplasty for Cervical Spondylotic Myelopathy

    PubMed Central

    Ikuta, Ko; Ikeuchi, Hiroko; Shiraki, Makoto; Komiya, Norihiro; Kitamura, Takahiro; Senba, Hideyuki; Shidahara, Satoshi

    2016-01-01

    Study Design A retrospective comparative study. Purpose To clarify the risk factors related to the development of postoperative C5 palsy through radiological studies after cervical double-door laminoplasty (DDL). Overview of Literature Although postoperative C5 palsy is generally considered to be the result of damage to the nerve root or segmental spinal cord, the associated pathology remains controversial. Methods A consecutive case series of 47 patients with cervical spondylotic myelopathy treated by DDL at our institution between April 2008 and April 2015 were reviewed. Postoperative C5 palsy occurred in 5 of 47 cases after DDL. We investigated 9 radiologic factors that have been reported to be risk factors for C5 palsy in various studies, and statistically examined these between the two groups of palsy and the non-palsy patients. Results We found a significant difference between patients with and without postoperative C5 palsy with regards to the posterior shift of spinal cord at C4/5 (p=0.008). The logistic regression analyses revealed posterior shift of the spinal cord at C4/5 (odds ratio, 12.066; p=0.029; 95% confidence interval, 1.295–112.378). For the other radiologic factors, there were no statistically significant differences between the two groups. Conclusions In the present study, we showed a significant difference in the posterior shift of the spinal cord at C4/5 between the palsy and the non-palsy groups, indicating that the "tethering phenomenon" was likely a greater risk factor for postoperative C5 palsy. PMID:27114771

  10. Persistence of Cerebral Palsy Diagnosis: Assessment of a Low-Birth-Weight Cohort at Ages 2, 6, and 9 Years.

    PubMed

    Korzeniewski, Steven J; Feldman, Judith F; Lorenz, John M; Pinto-Martin, Jennifer A; Whitaker, Agnes H; Paneth, Nigel

    2016-03-01

    We examined the stability of nondisabling and disabling cerebral palsy at age 2 in a longitudinally followed tri-county low-birth-weight (<2000 g) birth cohort. A total of 1105 newborns were enrolled, 901 (81.5%) survived to age 2, and 86% (n = 777) were followed up. Of the 113 cerebral palsy diagnoses at age 2, 61 (9% of the cohort, n = 61/777) had disabling cerebral palsy and 52 (7%, n = 52/777) had nondisabling cerebral palsy. Of 48 followed children diagnosed with disabling cerebral palsy at age 2, 98% were again classified as having cerebral palsy at school age, and 1 had an uncertain cerebral palsy status. By contrast, 41% (n = 17) of the 43 children diagnosed with nondisabling cerebral palsy at age 2 were classified as not having cerebral palsy. Of the 517 followed children who were not diagnosed with cerebral palsy at age 2, 7% (n = 35) were classified as having late emerging nondisabling cerebral palsy at school age. PMID:26271791

  11. The phenotype of the Gly94fsX222 PMP22 insertion.

    PubMed

    de Vries, Sara D J; Verhamme, Camiel; van Ruissen, Fred; van Paassen, Barbara W; Arts, Willem F; Kerkhoff, Henk; van Engelen, Baziel G M; Lammens, Martin; de Visser, Marianne; Baas, Frank; van der Kooi, Anneke J

    2011-06-01

    Point mutations in PMP22 are relatively rare and the phenotype may vary from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe Charcot-Marie-Tooth type 1 (CMT1). We describe the phenotype of the Gly94fsX222 mutation in the PMP22 gene. Medical records of all patients were reviewed and 11 patients were re-examined. EMG was carried out in nine patients and nerve biopsy in one. Thirteen patients originating from seven families with a Gly94fsX222 mutation were included and consisted of 10 women and 3 men with a median age of 41 years (range 7-67). Five index patients were originally suspected of CMT1. Ten patients had abnormal motor skills during childhood. Nine patients had a history of pressure palsies. Involvement of the olfactory, trigeminal, facial, and pudendal nerves occurred in three patients. Twelve patients had pes cavus and one scoliosis. Distal anterior leg and distal arm weakness were found in 12 and 4 patients, respectively. Twelve patients had distal leg sensory abnormalities. Electrophysiological examination revealed a demyelinating sensorimotor neuropathy, both resembling CMT1 and HNPP. Sural nerve biopsy showed demyelinating neuropathy with presence of tomacula. More than three-fourths of the patients with Gly94fsX222 mutation demonstrated a CMT1 phenotype combined with transient deficits. Clinicians should test for this mutation in those patients exhibiting a generalised neuropathy combined with compressive like episodes. PMID:21692910

  12. Saccadic Palsy following Cardiac Surgery: Possible Role of Perineuronal Nets

    PubMed Central

    Roeber, Sigrun; Härtig, Wolfgang; Nair, Govind; Reich, Daniel S.

    2015-01-01

    Objective Perineuronal nets (PN) form a specialized extracellular matrix around certain highly active neurons within the central nervous system and may help to stabilize synaptic contacts, promote local ion homeostasis, or play a protective role. Within the ocular motor system, excitatory burst neurons and omnipause neurons are highly active cells that generate rapid eye movements – saccades; both groups of neurons contain the calcium-binding protein parvalbumin and are ensheathed by PN. Experimental lesions of excitatory burst neurons and omnipause neurons cause slowing or complete loss of saccades. Selective palsy of saccades in humans is reported following cardiac surgery, but such cases have shown normal brainstem neuroimaging, with only one clinicopathological study that demonstrated paramedian pontine infarction. Our objective was to test the hypothesis that lesions of PN surrounding these brainstem saccade-related neurons may cause saccadic palsy. Methods Together with four controls we studied the brain of a patient who had developed a permanent selective saccadic palsy following cardiac surgery and died several years later. Sections of formalin-fixed paraffin-embedded brainstem blocks were applied to double-immunoperoxidase staining of parvalbumin and three different components of PN. Triple immunofluorescence labeling for all PN components served as internal controls. Combined immunostaining of parvalbumin and synaptophysin revealed the presence of synapses. Results Excitatory burst neurons and omnipause neurons were preserved and still received synaptic input, but their surrounding PN showed severe loss or fragmentation. Interpretation Our findings support current models and experimental studies of the brainstem saccade-generating neurons and indicate that damage to PN may permanently impair the function of these neurons that the PN ensheathe. How a postulated hypoxic mechanism could selectively damage the PN remains unclear. We propose that the well

  13. Bilateral traumatic hip dislocation with sciatic nerve palsy.

    PubMed

    Fan, Ka Yuk; Lui, Tun Hing

    2015-01-01

    Bilateral hip dislocation is a rare condition. We report a case of traumatic bilateral hip dislocation and unilateral sciatic nerve palsy in a young woman with known idiopathic scoliosis. With prompt reduction of the dislocated hips, there was reasonable neurological recovery. There was no avascular necrosis of the femoral head or post-traumatic arthritis up to 3-year follow-up. The gender difference in incidence, as well as the predisposition of hip dislocation in scoliosis is discussed. In our case, the decreased femoral anteversion was the culprit. PMID:25809426

  14. Severe gastric distension in seven patients with cerebral palsy.

    PubMed

    Del Beccaro, M A; McLaughlin, J F; Polage, D L

    1991-10-01

    This is a report of two children who had severe recurrent gastric distension and vomiting, and five who experienced severe gastric distension without vomiting. Two of the five died during an episode of acute gastric distension. All had marked nutritional depletion, and severe spastic quadriplegia due to either cerebral palsy or acquired brain injury. None of the patients had significant gastroesophageal reflux. Positioning the patients in the left lateral decubitus position temporarily relieved their obstructions. Complete resolution of the distension and/or vomiting did not occur until after adequate weight gain. Loss of fat stores may lead to this type of recurrent gastric distension. PMID:1743416

  15. Foreign body resulting in chronic otomastoiditis and facial palsy.

    PubMed

    Verma, Roshan Kumar; Gupta, Bhumika; Panda, Naresh K

    2015-02-01

    We present a case of a foreign body in the ear of 5-year-old girl child. She presented with features of chronic suppurative otitis media with facial nerve palsy. On exploration exuberant granulation was found in attic and middle ear. A foreign body (seed) was found buried within the granulation tissue which was removed. Bony facial canal was dehiscent in the tympanic segment. She had recovery of facial nerve function. The case is being reported to increase awareness among otolaryngologist and to consider foreign body as a differential diagnosis in cases of complicated CSOM; especially in children. PMID:25500549

  16. Boston Children's Hospital approach to brachial plexus birth palsy.

    PubMed

    Vuillermin, Carley; Bauer, Andrea S

    2016-07-01

    The treatment of infants with brachial plexus birth palsy (BPBP) continues to be a focus at Boston Children's Hospital. Over the last 15 years, there have been many developments in the treatment of infants with BPBP. Some of the greatest changes have emerged through technical advances such as the advent of distal nerve transfers to allow targeted reinnervation as well as through research to understand the pathoanatomical changes that lead to glenohumeral dysplasia and how this dysplasia can be remodeled. This review will discuss our current practice of evaluation of the infant with BPBP, techniques for microsurgical reconstruction, and prevention and treatment of secondary glenohumeral dysplasia. PMID:27137763

  17. Facial palsy following embolization of a dural arteriovenous fistula.

    PubMed

    Ozluoglu, Levent N; Koycu, A; Jafarov, S; Hizal, E; Boyvat, F

    2016-09-01

    Intracranial arteriovenous malformations are infrequent. Advances in endovascular treatment techniques have promoted the use of endovascular embolization in management of intracranial arteriovenous malformations. Transvenous or transarterial embolization procedures are effective options in the treatment of the arteriovenous fistulas. However, complications such as cranial nerve palsies may occur. Here, we present a case of right-sided lower motor neuron facial paralysis due to embolization of an intracranial dural arteriovenous fistula that have presented with clinical findings on the left eye. Facial functions of the patient improved from total weakness to House-Brackmann grade II, following facial nerve decompression surgery. PMID:26329900

  18. Obesity in children with brachial plexus birth palsy.

    PubMed

    Singh, Avreeta K; Mills, Janith; Bauer, Andrea S; Ezaki, Marybeth

    2015-11-01

    Fetal macrosomia is associated with a 14-fold increased risk of brachial plexus birth palsy (BPBP), and is a predictor of childhood obesity. The purpose of this study was to identify the relationships between BPBP, fetal macrosomia, and childhood obesity. We retrospectively reviewed 214 children with BPBP. The average age was 8 years and 53% had a Narakas 1 grade BPBP. Overall, 49% of children were normal weight, 22% overweight, and 29% obese. Of the children with a history of fetal macrosomia, 41% were obese; a statistically significant difference. Overall quality of life scores, however, were not correlated with obesity. PMID:26163865

  19. Corneal edema induced by cold in trigeminal nerve palsy

    SciTech Connect

    Thorgaard, G.L.; Holland, E.J.; Krachmer, J.H.

    1987-05-15

    We examined a 34-year-old man who complained of decreased visual acuity in the right eye when exposed to cold environmental temperatures. Although examination at room temperature was unremarkable, he developed prominent unilateral corneal edema of the right eye when placed in a cold room at 4 C. Corneal thickness increased from 525 to 789 microns in the affected eye. Further examination disclosed a right-sided trigeminal nerve palsy. He was eventually found to have a 3 X 2-cm tentorial ridge meningioma on the right.

  20. Assessment of feeding performance in patients with cerebral palsy.

    PubMed

    Yilmaz, Sule; Basar, Pinar; Gisel, Erika G

    2004-12-01

    Patients with cerebral palsy (CP) frequently manifest oral-ingestive problems ranging from mild to severe. Drooling, rejection of solid foods, choking, coughing and spillage during eating may contribute to these problems. The aim of this study was to assess functional feeding skills of patients with CP, aged 4-25 years. They were assessed with the Modified Functional Feeding Assessment Scale (FFAm). Mothers had expressed concern regarding drooling and reluctance in accepting solid foods. None of the mothers thought that there was a major problem with adequate ingestion. However, the study revealed that patients had disabilities in spoon feeding, biting, chewing, cup drinking, straw drinking, swallowing and clearing. PMID:15572999

  1. Rehabilitation outcomes in children with cerebral palsy during a 2 year period

    PubMed Central

    İçağasıoğlu, Afitap; Mesci, Erkan; Yumusakhuylu, Yasemin; Turgut, Selin Turan; Murat, Sadiye

    2015-01-01

    [Purpose] To observe motor and functional progress of children with cerebral palsy during 2 years. [Subjects and Methods] Pediatric cerebral palsy patients aged 3–15 years (n = 35/69) with 24-month follow-up at our outpatient cerebral palsy clinic were evaluated retrospectively. The distribution of cerebral palsy types was as follows: diplegia (n = 19), hemiplegia (n = 4), and quadriplegia (n = 12). Participants were divided into 3 groups according to their Gross Motor Functional Classification System scores (i.e., mild, moderate, and severe). All participants were evaluated initially and at the final assessment 2 years later. During this time, patients were treated 3 times/week. Changes in motor and functional abilities were assessed based on Gross Motor Function Measure-88 and Wee Functional Independence Measure. [Results] Significant improvements were observed in Gross Motor Function Measure-88 and Wee Functional Independence Measure results in all 35 patients at the end of 2 years. The Gross Motor Function Measure-88 scores correlated with Wee Functional Independence Measure Scores. Marked increases in motor and functional capabilities in mild and moderate cerebral palsy patients were observed in the subgroup assessments, but not in those with severe cerebral palsy. [Conclusion] Rehabilitation may greatly help mild and moderate cerebral palsy patients achieve their full potential. PMID:26644677

  2. Antenatal and delivery risk factors and prevalence of cerebral palsy in Duzce (Turkey).

    PubMed

    Oztürk, A; Demirci, F; Yavuz, T; Yildiz, S; Değirmenci, Y; Döşoğlu, M; Avşar, Y

    2007-01-01

    This cross-sectional study aimed at investigating the prevalence and the etiological factors of cerebral palsy (CP) and comparing them with normal population within the rural and urban areas of Duzce province. Of the 102 children with cerebral palsy, 98 were associated with antenatal and delivery risk factors. The mean crude prevalence of cerebral palsy was 1.1 per 1000 live births. The children with CP were compared with 530 control subjects. The mothers of the children with cerebral palsy were significantly younger than the mothers of children in control group, and they had less parity and abortion. Preeclampsia, premature rupture of membranes, home births, prolonged labor, and twin pregnancies were significantly more common in the mothers of children with cerebral palsy, where no significant differences were found between the groups in terms of breech delivery, rate of cesarean births, gestational diabetes, and hemorrhage in late pregnancy. Birth asphyxia, liqueur with meconium stained, prolonged jaundice and neonatal seizure were also significantly more common in the group with cerebral palsy. Of the children with cerebral palsy, 78% were born at term, 20% were born with gestational ages of 32-36 weeks, 2% were born with gestational ages of 30-31 weeks. Nine percent of those children had a birth weight of >or= 3000 g, 12.2% had a birth weight of 2500-2999 g, 33.7% had a birth weight of 1500-2499 g, and 5.1% had a birth weight of palsy were due to insufficient neonatal care, resulting in low survival in preterm and low birth weight children, and poor postnatal care of children with cerebral palsy. PMID:16824718

  3. Prevention of cerebral palsy in motor risk infants by treatment ad modum Vojta. A controlled study.

    PubMed

    Brandt, S; Lønstrup, H V; Marner, T; Rump, K J; Selmar, P; Schack, L K; d'Avignon, M; Norén, L; Arman, T

    1980-05-01

    The proposal by V. Vojta in 1974 to prevent development of cerebral palsy in "motor risk" infants by special treatment has been investigated in 11 Danish and 10 Swedish babies and compared with 30 control infants with similar risk, who were not given Vojta treatment. We found a tendency for "uncomplicated" cerebral palsy cases to accumulate in the control group, although the difference was non-significant on 1 5% level. Further controlled studies must be completed before it is possible to accept the prophylactive treatment of cerebral palsy recommended by Vojta. PMID:7376854

  4. Radial nerve motor palsy following seasonal influenza vaccination: a case report.

    PubMed

    Taras, John S; Donohue, Kenneth W

    2014-01-01

    This case report describes the course of a 26-year-old male who developed a dense motor palsy of the radial nerve after receiving a seasonal influenza vaccination. The palsy developed within 12 to 16 hours of inoculation and demonstrated no clinical recovery until 5 months postinjury. Electromyographic and nerve conduction studies obtained at six weeks postinjury were consistent with complete motor denervation. Sensory function was preserved. The injury was successfully treated nonoperatively with physical therapy and wrist splinting, and the palsy gradually resolved over the next several months. PMID:24641896

  5. Unilateral abducens and bilateral facial nerve palsies associated with posterior fossa exploration surgery.

    PubMed

    Khalil, Ayman; Clerkin, James; Mandiwanza, Tafadzwa; Green, Sandra; Javadpour, Mohsen

    2016-01-01

    Multiple cranial nerves palsies following a posterior fossa exploration confined to an extradural compartment is a rare clinical presentation. This case report describes a young man who developed a unilateral abducens and bilateral facial nerve palsies following a posterior fossa exploration confined to an extradural compartment. There are different theories to explain this presentation, but the exact mechanism remains unclear. We propose that this patient cranial nerve palsies developed following cerebrospinal fluid (CSF) leak, potentially as a consequence of rapid change in CSF dynamics. PMID:26951144

  6. Unilateral abducens and bilateral facial nerve palsies associated with posterior fossa exploration surgery

    PubMed Central

    Khalil, Ayman; Clerkin, James; Mandiwanza, Tafadzwa; Green, Sandra; Javadpour, Mohsen

    2016-01-01

    Multiple cranial nerves palsies following a posterior fossa exploration confined to an extradural compartment is a rare clinical presentation. This case report describes a young man who developed a unilateral abducens and bilateral facial nerve palsies following a posterior fossa exploration confined to an extradural compartment. There are different theories to explain this presentation, but the exact mechanism remains unclear. We propose that this patient cranial nerve palsies developed following cerebrospinal fluid (CSF) leak, potentially as a consequence of rapid change in CSF dynamics. PMID:26951144

  7. Iatrogenic Cushing Syndrome to Facial Nerve Palsy: Via Intracranial Tuberculoma-An Interesting Journey

    PubMed Central

    2014-01-01

    Isolated Facial nerve palsy is a less common neurological manifestation of intracranial tuberculoma. Again, tuberculoma can arise following development of Cushing syndrome after prolonged intake of steroids due to origin of immunosuppressed state. Thus exogenous steroid administration leading to iatrogenic Cushing Syndrome which again causing tuberculoma, with facial nerve palsy developing as a manifestation of tuberculoma is not unnatural but definitely a unique scenario. The author reports an interesting case where a patient developed left sided facial palsy following development of intracranial tuberculoma from iatrogenic Cushing syndrome after longterm intake of Dexamethasone as a treatment for low back pain. This situation is rarely reported before. PMID:25653980

  8. Rehabilitation Needs of People with Cerebral Palsy: a qualitative Study

    PubMed Central

    sharifi, Azam; Kamali, Mohammad; Chabok, Ali

    2014-01-01

    Background: Cerebral palsy (CP) describes a group of disorders regarding the development of movement and posture, which causes limitations in activity. In fact, it is attributed to non-progressive disturbances that occur during brain development in fetus or infant. CP disorders may accompany by speech, auditory, visual abnormality, seizure, learning disorder, mental retardation and etc. Due to the variation in disorders and ultimately the needs that are made in the wake of the diseases, understanding the needs of these patients is essential. Methods: This research was a qualitative study, with phenomenology method and sampling was purposeful. The participants were 17 cerebral palsy people (6 female and 11 male, with aged 15 to 43). Data were collected by deep interview with open-end questions and analyzed by collaizi method. Results: During the interview sessions, notes and ideas were classified and assorted, so that, the rehabilitation needs of people with CP were understood according to the statements of participants. The results of this study were placed in four domains, 3 themes and 22 subthemes. The domains included social, emotional needs, economic, and therapeutic needs. Conclusion: The requirements studies in this research were particularly introduced by patients with CP. People in the society, who might have contact with these patients, are responsible to help them to overcome their problems and disabilities. PMID:25250261

  9. Unusual insidious spinal accessory nerve palsy: a case report

    PubMed Central

    2010-01-01

    Introduction Isolated spinal accessory nerve dysfunction has a major detrimental impact on the functional performance of the shoulder girdle, and is a well-documented complication of surgical procedures in the posterior triangle of the neck. To the best of our knowledge, the natural course and the most effective way of handling spontaneous spinal accessory nerve palsy has been described in only a few instances in the literature. Case presentation We report the case of a 36-year-old Caucasian, Greek man with spontaneous unilateral trapezius palsy with an insidious course. To the best of our knowledge, few such cases have been documented in the literature. The unusual clinical presentation and functional performance mismatch with the imaging findings were also observed. Our patient showed a deterioration that was different from the usual course of this pathology, with an early onset of irreversible trapezius muscle dysfunction two months after the first clinical signs started to manifest. A surgical reconstruction was proposed as the most efficient treatment, but our patient declined this. Although he failed to recover fully after conservative treatment for eight months, he regained moderate function and is currently virtually pain-free. Conclusion Clinicians have to be aware that due to anatomical variation and the potential for compensation by the levator scapulae, the clinical consequences of any injury to the spinal accessory nerve may vary. PMID:20507553

  10. Motor control deficits of orofacial muscles in cerebral palsy.

    PubMed Central

    Vaughan, C W; Neilson, P D; O'Dwyer, N J

    1988-01-01

    Voluntary control of the masseter and orbicularis oris superioris muscles was examined in able bodied and cerebral palsied subjects using visual tracking tasks. A smoothed measure of muscle activity (the full-wave rectified and low-pass filtered electromyogram) was presented as a marker on a computer display screen and the subjects could control the vertical position of the marker by voluntarily altering the level of isometric contraction of one of the muscles. A target marker was also displayed on the screen and the subjects were required to follow or "track" the irregular movements of this target with the response marker. Their success in aligning the response marker with the target was analysed for these orofacial muscles. The masseter is influenced by muscle spindle based reflexes, while the orbicularis oris superioris lacks such reflex control. The cerebral palsied subjects displayed similarly poor control over both muscles, implying that their voluntary motor deficits are not related to abnormal muscle spindle based reflexes. It is suggested that the impairment may be related to perceptual-motor integration. PMID:3379427

  11. Causes of Secondary Radial Nerve Palsy and Results of Treatment.

    PubMed

    Reichert, Pawel; Wnukiewicz, Witold; Witkowski, Jarosław; Bocheńska, Aneta; Mizia, Sylwia; Gosk, Jerzy; Zimmer, Krzysztof

    2016-01-01

    BACKGROUND The aim of this study was to analyze the causes that lead to secondary damage of the radial nerve and to discuss the results of reconstructive treatment. MATERIAL AND METHODS The study group consisted of 33 patients treated for radial nerve palsy after humeral fractures. Patients were diagnosed based on clinical examinations, ultrasonography, electromyography, or nerve conduction velocity. During each operation, the location and type of nerve damage were analyzed. During the reconstructive treatment, neurolysis, direct neurorrhaphy, or reconstruction with a sural nerve graft was used. The outcomes were evaluated using the Medical Research Council (MRC) scales and the quick DASH score. RESULTS Secondary radial nerve palsy occurs after open reduction and internal fixation (ORIF) by plate, as well as by closed reduction and internal fixation (CRIF) by nail. In the case of ORIF, it most often occurs when the lateral approach is used, as in the case of CRIF with an insertion interlocking screws. The results of the surgical treatment were statistically significant and depended on the time between nerve injury and revision (reconstruction) surgery, type of damage to the radial nerve, surgery treatment, and type of fixation. Treatment results were not statistically significant, depending on the type of fracture or location of the nerve injury. CONCLUSIONS The potential risk of radial nerve neurotmesis justifies an operative intervention to treat neurological complications after a humeral fracture. Adequate surgical treatment in many of these cases allows for functional recovery of the radial nerve. PMID:26895570

  12. SHUEE on the evaluation of upper limb in cerebral palsy

    PubMed Central

    Tedesco, Ana Paula; Nicolini-Panisson, Renata D'Agostini; de Jesus, Aline

    2015-01-01

    OBJECTIVE: To demonstrate the use of the tool for evaluation of spastic upper limb SHUEE (Shriners Hospital Upper Extremity Evaluation) in the evaluation of upper limb in cerebral palsy (CP) and its ability to detect changes after surgical treatment of identified deformities. METHODS: 19 patients with spastic hemiplegic CP had their upper limb evaluated by SHUEE. Five patients underwent surgical treatment of deformities detected and performed the test at one year postoperatively. RESULTS: The mean age was 9.02 years old; 18 patients were classified as level I GMFCS and one patient as level II. At baseline, the mean spontaneous functional analysis was 59.01; dynamic positional analysis was 58.05 and grasp-and-release function, was 91.21. In the postoperative period the scores were, respectively, 65.73, 69.62 and 100, showing an improvement of 3.5% in the spontaneous functional analysis and of 44.8% in dynamic positional analysis. CONCLUSIONS: SHUEE is a tool for evaluation of spastic upper limb in cerebral palsy that helps in the specific diagnosis of deformities, indication of treatment and objective detection of results after surgical treatment. Level of Evidence IV, Case Series. PMID:26327806

  13. Causes of Secondary Radial Nerve Palsy and Results of Treatment

    PubMed Central

    Reichert, Paweł; Wnukiewicz, Witold; Witkowski, Jarosław; Bocheńska, Aneta; Mizia, Sylwia; Gosk, Jerzy; Zimmer, Krzysztof

    2016-01-01

    Background The aim of this study was to analyze the causes that lead to secondary damage of the radial nerve and to discuss the results of reconstructive treatment. Material/Methods The study group consisted of 33 patients treated for radial nerve palsy after humeral fractures. Patients were diagnosed based on clinical examinations, ultrasonography, electromyography, or nerve conduction velocity. During each operation, the location and type of nerve damage were analyzed. During the reconstructive treatment, neurolysis, direct neurorrhaphy, or reconstruction with a sural nerve graft was used. The outcomes were evaluated using the Medical Research Council (MRC) scales and the quick DASH score. Results Secondary radial nerve palsy occurs after open reduction and internal fixation (ORIF) by plate, as well as by closed reduction and internal fixation (CRIF) by nail. In the case of ORIF, it most often occurs when the lateral approach is used, as in the case of CRIF with an insertion interlocking screws. The results of the surgical treatment were statistically significant and depended on the time between nerve injury and revision (reconstruction) surgery, type of damage to the radial nerve, surgery treatment, and type of fixation. Treatment results were not statistically significant, depending on the type of fracture or location of the nerve injury. Conclusions The potential risk of radial nerve neurotmesis justifies an operative intervention to treat neurological complications after a humeral fracture. Adequate surgical treatment in many of these cases allows for functional recovery of the radial nerve. PMID:26895570

  14. Multiple myeloma presenting with unilateral abducens and trigeminal nerve palsies.

    PubMed

    Thiruvengadam, Sushrut S; Prayson, Richard A

    2016-04-01

    Petrous apex masses can manifest with neurologic symptoms due to their involvement of various structures, including cranial nerves (CN) V and VI. The differential diagnosis of petrous masses is broad and includes a variety of both non-neoplastic and neoplastic lesions. We report a rare case of multiple myeloma confined to the right petrous apex, presenting with ipsilateral abducens and trigeminal nerve palsies. A 63-year-old woman presented with a 6-8 week history of facial numbness and a 2 week history of diplopia, with examination showing right-sided facial hypoesthesia in the CN V1-V3 region and right-sided lateral rectus palsy. MRI of the brain showed a solitary 2.0 cm lesion confined to the right petrous apex involving the right cavernous internal carotid artery and Meckel's cave. A transnasal biopsy showed a proliferation of plasmacytoid cells, which showed diffuse immunoreactivity with antibodies to CD138 and kappa, consistent with a plasma cell dyscrasia. A bone scan subsequently revealed multiple lytic bone lesions involving the skull, left humerus, bilateral femurs and possibly the L4 vertebral body. Bone marrow biopsy and serum laboratory results confirmed the diagnosis of kappa-type multiple myeloma. Although rare, multiple myeloma may initially present with petrous involvement and associated cranial nerve deficits. PMID:26602603

  15. Weather conditions and Bell's palsy: five-year study and review of the literature

    PubMed Central

    Danielides, Vasilis; Patrikakos, George; Nousia, Christina-Sophia; Bartzokas, Aristides; Milionis, Haralampos J; Lolis, Christos; Skevas, Antonios

    2001-01-01

    Background Climatic or meteorological condition changes have been implicated in the pathogenesis of Bell's palsy (BP). We evaluate the influence of meteorological parameters, such as temperature, humidity, and atmospheric pressure, and their variation and covariation on the incidence of BP and present a review of the literature on the effect of meteorological conditions on facial nerve function. Methods A total of 171 cases of BP admitted to our Department over a five-year period were studied. The meteorological database included daily values of 13 distinct parameters recorded at the meteorological station of the University of Ioannina during this period. A relationship between each meteorological variable and the incidence of BP was investigated by applying (Χ2) test on data from 13 contingency tables. In addition, the influence of different weather types on the incidence of BP was also investigated. For this purpose Cluster Analysis was used to create eight clusters (weather types) for the Ioannina prefecture and (Χ2) test was applied on the contingency tables consisting of the days of BP cases for each cluster. Results No significant correlation was found either between BP and each distinct meteorological parameter or between BP and any specific weather. Conclusions Meteorological conditions, such as those dominating in the Northwestern Greece, and/or their changes have little effect on the incidence of BP. Multicenter studies taking into account atmospheric pollution, and climatic differences between countries, are necessary to scrutinize the environmental effects on facial nerve function. PMID:11737872

  16. The Effects of Acute Intense Physical Exercise on Postural Stability in Children With Cerebral Palsy.

    PubMed

    Leineweber, Matthew J; Wyss, Dominik; Dufour, Sophie-Krystale; Gane, Claire; Zabjek, Karl; Bouyer, Laurent J; Maltais, Désirée B; Voisin, Julien I; Andrysek, Jan

    2016-07-01

    This study evaluated the effects of intense physical exercise on postural stability of children with cerebral palsy (CP). Center of pressure (CoP) was measured in 9 typically developing (TD) children and 8 with CP before and after a maximal aerobic shuttle-run test (SRT) using a single force plate. Anteroposterior and mediolateral sway velocities, sway area, and sway regularity were calculated from the CoP data and compared between pre- and postexercise levels and between groups. Children with CP demonstrated significantly higher pre-SRT CoP velocities than TD children in the sagittal (18.6 ± 7.6 vs. 6.75 1.78 m/s) and frontal planes (15.4 ± 5.3 vs. 8.04 ± 1.51 m/s). Post-SRT, CoP velocities significantly increased for children with CP in the sagittal plane (27.0 ± 1.2 m/s), with near-significant increases in the frontal plane (25.0 ± 1.5m/s). Similarly, children with CP evidenced larger sway areas than the TD children both pre- and postexercise. The diminished postural stability in children with CP after short but intense physical exercise may have important implications including increased risk of falls and injury. PMID:27623610

  17. Kinetic comparison of walking on a treadmill versus over ground in children with cerebral palsy.

    PubMed

    van der Krogt, Marjolein M; Sloot, Lizeth H; Buizer, Annemieke I; Harlaar, Jaap

    2015-10-15

    Kinetic outcomes are an essential part of clinical gait analysis, and can be collected for many consecutive strides using instrumented treadmills. However, the validity of treadmill kinetic outcomes has not been demonstrated for children with cerebral palsy (CP). In this study we compared ground reaction forces (GRF), center of pressure, and hip, knee and ankle moments, powers and work, between overground (OG) and self-paced treadmill (TM) walking for 11 typically developing (TD) children and 9 children with spastic CP. Considerable differences were found in several outcome parameters. In TM, subjects demonstrated lower ankle power generation and more absorption, and increased hip moments and work. This shift from ankle to hip strategy was likely due to a more backward positioning of the hip and a slightly more forward trunk lean. In mediolateral direction, GRF and hip and knee joint moments were increased in TM due to wider step width. These findings indicate that kinetic data collected on a TM cannot be readily compared with OG data in TD children and children with CP, and that treadmill-specific normative data sets should be used when performing kinetic gait analysis on a treadmill. PMID:26315918

  18. Computer and microswitch-based programs to improve academic activities by six children with cerebral palsy.

    PubMed

    Stasolla, Fabrizio; Damiani, Rita; Perilli, Viviana; D'Amico, Fiora; Caffò, Alessandro O; Stella, Anna; Albano, Vincenza; Damato, Concetta; Leone, Antonia Di

    2015-01-01

    This study was aimed at extending the use of assistive technology (i.e. microswitch such as a pressure sensor, interface and laptop) with a new setup, allowing six children with cerebral palsy and extensive motor disabilities to improve their academic activities during classroom. A second objective of the study was to assess a maintenance/generalization phase, occurring three months after the end of the intervention, at participants' homes, involving their parents. A third purpose of the study was to monitor the effects of the intervention program on the indices of positive participations (i.e. constructive engagement) of participants involved. Finally, a social validation procedure involving 36 support teachers as raters was conducted. The study was carried out according to a multiple probe design across behaviours followed by maintenance/generalization phase for each participant. That is, the two behaviours (i.e. choice among academic disciplines and literacy) were learned first singly, then combined together. Results showed an increasing of the performances for all participants involved during intervention phases. Furthermore, during maintenance phase participants consolidated their results. Moreover, positive participation augmented as well. Support teachers, involved in the social validation assessment, considered the combined intervention as more favourable with respect to those singly learned. Clinical, educational and practical implications of the findings are discussed. PMID:26196086

  19. Sensory and Perceptual Functions in the Cerebral Palsied. III. Some Visual Perceptual Relationships

    ERIC Educational Resources Information Center

    Breakey, Arnold Stewart; And Others

    1974-01-01

    The relationships between specific aspects of peripheral ocular defects and perceptual deficits were investigated in a cerebral palsied population of 60 spastics, 60 athetoids, and 60 non-neurologically impaired Ss, 7 to 21 years of age. (Author/MC)

  20. [Acupuncture and Vojta therapy in infantile cerebral palsy--a comparison of the effects].

    PubMed

    Stockert, K

    1998-01-01

    Acupuncture and Vojta therapy are using more or less identical points and identical muscle chains for the treatment of infantile cerebral palsy. Therefore a common utilization seems to be sensible. PMID:10025039

  1. A Smartphone-Based Automatic Diagnosis System for Facial Nerve Palsy

    PubMed Central

    Kim, Hyun Seok; Kim, So Young; Kim, Young Ho; Park, Kwang Suk

    2015-01-01

    Facial nerve palsy induces a weakness or loss of facial expression through damage of the facial nerve. A quantitative and reliable assessment system for facial nerve palsy is required for both patients and clinicians. In this study, we propose a rapid and portable smartphone-based automatic diagnosis system that discriminates facial nerve palsy from normal subjects. Facial landmarks are localized and tracked by an incremental parallel cascade of the linear regression method. An asymmetry index is computed using the displacement ratio between the left and right side of the forehead and mouth regions during three motions: resting, raising eye-brow and smiling. To classify facial nerve palsy, we used Linear Discriminant Analysis (LDA) and Support Vector Machine (SVM), and Leave-one-out Cross Validation (LOOCV) with 36 subjects. The classification accuracy rate was 88.9%. PMID:26506352

  2. Predictors of Reading Comprehension in Children with Cerebral Palsy and Typically Developing Children

    PubMed Central

    Asbell, Shana; Donders, Jacobus; Van Tubbergen, Marie; Warschausky, Seth

    2010-01-01

    Predictors of reading comprehension were evaluated in 41 children with cerebral palsy and 74 typically developing children between the ages of 6 and 12 years. Regression analyses were conducted to determine the relative contributions of measures of phonemic awareness, receptive vocabulary, and general reasoning to variance in reading comprehension. All three independent variables were statistically significant predictors of reading comprehension in both groups of participants. The impact of phonemic awareness on reading comprehension was moderated by age, but only in the typically developing group. Within the group with cerebral palsy, there was an indirect effect of functional expressive ability on reading comprehension, mediated by phonemic awareness. It is concluded that largely the same variables predict reading comprehension in children with cerebral palsy as in typically developing children, but that children with cerebral palsy continue to rely on phonological processing for a more protracted period of time. PMID:20455127

  3. Benign Recurrent Sixth (Abducens) Nerve Palsy following Measles-Mumps-Rubella Vaccination.

    PubMed

    Bourtoulamaiou, Areti; Yadav, Sohraab; Nayak, Harish

    2015-01-01

    Benign, isolated, recurrent sixth nerve palsy is rare in children. It may be associated with febrile viral illness and vaccination in exceptional circumstances although this is a diagnosis of exclusion. Here, we present the case of a 2-year-old Caucasian girl who developed recurrent 6th nerve palsy following vaccination with the measles-mumps-rubella (MMR) vaccine. No underlying pathology was identified following extensive investigations and followup. There is limited data available on the pathophysiology of vaccination-related nerve palsies. As with all previous reports of cranial nerve palsies following vaccination, there was complete resolution in this case. Long term followup with repeated physical examination and investigations is warranted to avoid missing severe pathology and operating unnecessarily. PMID:26257972

  4. Isolated and bilateral simultaneous facial palsy disclosing early human immunodeficiency virus infection

    PubMed Central

    Sathirapanya, Pornchai

    2015-01-01

    Bilateral lower motor neuron type facial palsy is an unusual neurological disorder. There are few reports that associate it with the human immunodeficiency virus (HIV) infection on initial presentation. A 51-year-old married woman, who was previously healthy and had no risk of HIV infection, presented solely with bilateral simultaneous facial palsy. A positive HIV serology test was confirmed by an enzyme-linked immunosorbent assay test. Following a short course of oral prednisolone, the patient recovered completely from facial palsy in three months, even though an antiretroviral treatment was suspended. Exclusion of HIV infection in patients with bilateral facial palsy is essential for early diagnosis and management of HIV. PMID:26106247

  5. A smartphone-based automatic diagnosis system for facial nerve palsy.

    PubMed

    Kim, Hyun Seok; Kim, So Young; Kim, Young Ho; Park, Kwang Suk

    2015-01-01

    Facial nerve palsy induces a weakness or loss of facial expression through damage of the facial nerve. A quantitative and reliable assessment system for facial nerve palsy is required for both patients and clinicians. In this study, we propose a rapid and portable smartphone-based automatic diagnosis system that discriminates facial nerve palsy from normal subjects. Facial landmarks are localized and tracked by an incremental parallel cascade of the linear regression method. An asymmetry index is computed using the displacement ratio between the left and right side of the forehead and mouth regions during three motions: resting, raising eye-brow and smiling. To classify facial nerve palsy, we used Linear Discriminant Analysis (LDA) and Support Vector Machine (SVM), and Leave-one-out Cross Validation (LOOCV) with 36 subjects. The classification accuracy rate was 88.9%. PMID:26506352

  6. Fourth Cranial Nerve Palsy in a Collegiate Lacrosse Player: A Case Report

    PubMed Central

    Stiller-Ostrowski, Jennifer L.

    2010-01-01

    Abstract Objective: To present the case of a National Collegiate Athletic Association Division I men's lacrosse athlete with fourth cranial nerve injury as the result of a minor traumatic blow. Background: The athlete was struck on the right side of his head during a lacrosse game. On-field evaluation revealed no cervical spine involvement or loss of consciousness. He complained of headache and dizziness, with delayed reports of visual disturbance. Sideline visual acuity and cranial nerve screenings appeared within normal limits. Consultation with the team physician indicated that immediate referral to the emergency department was unnecessary. Differential Diagnosis: Concussion, third cranial nerve palsy, fourth cranial nerve palsy. Treatment: The certified athletic trainer safely removed the athlete from the playing field and monitored him on the sideline. After being seen by the team physician, the patient was referred to a neurologist, ophthalmologist, and finally a neuro-ophthalmologist before a definitive diagnosis was made. The palsy did not necessitate surgical intervention, resolving with conservative treatment. The athlete was able to return to full athletic ability at his preinjury level by 8 months postinjury. Uniqueness: Superior oblique palsy as the result of fourth cranial nerve injury is the most frequent isolated cranial nerve palsy; however, these palsies are often underdiagnosed by health professionals. Such palsies are uncommon within the athletic realm, making timely diagnosis even less likely. Conclusions: Cranial nerve palsy may present very subtly in patients. Therefore, on-field health care providers should be aware of the descriptions and types of compensations that signal nerve injury. PMID:20617917

  7. Visual disorders in children with brain lesions: 2. Visual impairment associated with cerebral palsy.

    PubMed

    Guzzetta, A; Mercuri, E; Cioni, G

    2001-01-01

    Disorders of visual function are a common finding in children with cerebral palsy. In some cases they are secondary to ophthalmologic abnormalities such as cataract or retinopathy, but more often they are due to damage of the central visual pathway. We review the literature on the prevalence and distribution of visual abnormalities in children with cerebral palsy and their relation to cognitive, motor and emotional development. PMID:11589165

  8. Peripheral facial palsy in the past: contributions from Avicenna, Nicolaus Friedreich and Charles Bell.

    PubMed

    Resende, Luiz Antonio de Lima; Weber, Silke

    2008-09-01

    This study provides historical documents of peripheral facial palsy from Egypt, Greece and Rome, through the middle ages, and the renaissance, and into the last four centuries. We believe that the history of peripheral facial palsy parallels history of the human race itself. Emphasis is made on contributions by Avicenna and Nicolaus Friedreich. Controversies about the original clinical description by Charles Bell are also discussed. PMID:18949283

  9. Effects of Prolonged Standing on Gait in Children with Spastic Cerebral Palsy

    ERIC Educational Resources Information Center

    Salem, Yasser; Lovelace-Chandler, Venita; Zabel, Reta J.; McMillan, Amy Gross

    2010-01-01

    The purpose of this study was to determine the effects of prolonged standing on gait characteristics in children with spastic cerebral palsy. Six children with spastic cerebral palsy participated in this study with an average age of 6.5 years (SD = 2.5, range = 4.0-9.8 years). A reverse baseline design (A-B-A) was used over a 9-week period. During…

  10. Third Cranial Nerve Palsy in the Setting of Chikungunya Virus Infection.

    PubMed

    Benzekri, Réda; Hage, Rabih; Merle, Harold

    2016-07-01

    We report the case of a 62-year-old patient who developed an acute painless isolated left third cranial nerve palsy sparing the pupil in the setting of an acute chikungunya infection. The patient had no significant medical history. Specifically, he had no vascular risk factors. Ocular involvement in chikungunya fever is uncommon. The potential virus- and infection-related mechanisms of this third cranial nerve palsy are discussed. PMID:27246445

  11. Platelet-Rich Plasma in a Patient with Cerebral Palsy

    PubMed Central

    Alcaraz, Jesús; Oliver, Antonio; Sánchez, Juana María

    2015-01-01

    Patient: Male, 6 Final Diagnosis: Cerebral palsy secundary perinatal hypoxia Symptoms: Cognitive impairment • epilectic seizure Medication: Platelet rich plasma Clinical Procedure: Cognitive improvement with neuroestimulator and neuroregenerator power of platelet rich plasma injection Specialty: Hematology Objective: Unusual clinical course Background: The use of platelet-rich plasma is a now a common medical technique known as regenerative medicine, through power cell activation and differentiation, which produces growth factors called platelets derived both locally and systematically. Here, we report the case of a cerebral palsy patient who received intravenous platelet-rich plasma. Case Report: We administered an intravenous injection of concentrated platelet-rich plasma (25 cc) in a 6-year-old boy with perinatal cerebral palsy, cognitive impairment, and marked and severe generalized spasticity. We performed follow-up at 3 and 6 months after the injection. All serum samples for determination were obtained by ELISA technique. Cognitive scales (Bayley, Battelle, M.S.C.A, Kaufman ABC, and Stanford-Binet Intelligence scale) were used before and after treatment. The determination protocol that was applied before the analysis was performed manually and the autotransfusion was considered suitable for treatment. We determined the plasma levels of factor similar to insulin-1 (IGF-1), platelet-derived growth factor (PDGF), vasculo-endothelial growth factor (VEGF), and transforming growth factor B (TGF-B) before and during treatment monitoring. Conclusions: No adverse effects were observed in the patient except for a small hematoma in the area channeling venous access. We observed a clear improvement in the cognitive sphere (memory, ability to perform more complex tasks, and acquisition of new skills) and in language, maintaining stable levels of growth factor in plasma 3–5 times higher than average for his age group at both 3- and 6-month follow-up. Positron emission

  12. Deep peroneal nerve palsy with isolated lateral compartment syndrome secondary to peroneus longus tear: a report of two cases and a review of the literature.

    PubMed

    Hiramatsu, Kunihiko; Yonetani, Yasukazu; Kinugasa, Kazutaka; Nakamura, Norimasa; Yamamoto, Koji; Yoshikawa, Hideki; Hamada, Masayuki

    2016-06-01

    Drop foot is typically caused by neurologic disease such as lumbar disc herniation, but we report two rare cases of deep peroneal nerve palsy with isolated lateral compartment syndrome secondary to peroneus longus tears. Both patients developed mild pain in the lower legs while playing sport, and were aware of drop foot. As compartment pressures were elevated, fasciotomy was performed immediately, and the tendon of the peroneus longus was completely detached from its proximal origin. The patients were able to return their original sports after 3 months, and clinical examination revealed no hypesthesia or muscle weakness in the deep peroneal nerve area at the time of last follow-up. The common peroneal nerve pierced the deep fascia and lay over the fibular neck, which formed the floor of a short tunnel (the so-called fibular tunnel), then passed the lateral compartment just behind the peroneus longus. The characteristic anatomical situation between the fibular tunnel and peroneus longus might have caused deep peroneal nerve palsy in these two cases after hematoma adjacent to the fibular tunnel increased lateral compartment pressure. PMID:26362782

  13. De novo point mutations in patients diagnosed with ataxic cerebral palsy.

    PubMed

    Parolin Schnekenberg, Ricardo; Perkins, Emma M; Miller, Jack W; Davies, Wayne I L; D'Adamo, Maria Cristina; Pessia, Mauro; Fawcett, Katherine A; Sims, David; Gillard, Elodie; Hudspith, Karl; Skehel, Paul; Williams, Jonathan; O'Regan, Mary; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Sarah; Lustenberger, Andrea; Ragoussis, Jiannis; Jackson, Mandy; Tucker, Stephen J; Németh, Andrea H

    2015-07-01

    Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigating children with ataxia, we identified four patients in our cohort with a diagnosis of ataxic cerebral palsy. They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age. The mutations were shown to be pathogenic using a combination of bioinformatics analysis and in vitro model systems. This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de novo dominant point mutations, which explains the sporadic nature of these cases. We conclude that at least some subtypes of cerebral palsy may be caused by de novo genetic mutations and patients with a clinical diagnosis of cerebral palsy should be genetically investigated before causation is ascribed to perinatal asphyxia or other aetiologies. PMID:25981959

  14. De novo point mutations in patients diagnosed with ataxic cerebral palsy

    PubMed Central

    Parolin Schnekenberg, Ricardo; Perkins, Emma M.; Miller, Jack W.; Davies, Wayne I. L.; D’Adamo, Maria Cristina; Pessia, Mauro; Fawcett, Katherine A.; Sims, David; Gillard, Elodie; Hudspith, Karl; Skehel, Paul; Williams, Jonathan; O’Regan, Mary; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Sarah; Lustenberger, Andrea; Ragoussis, Jiannis

    2015-01-01

    Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigating children with ataxia, we identified four patients in our cohort with a diagnosis of ataxic cerebral palsy. They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age. The mutations were shown to be pathogenic using a combination of bioinformatics analysis and in vitro model systems. This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de novo dominant point mutations, which explains the sporadic nature of these cases. We conclude that at least some subtypes of cerebral palsy may be caused by de novo genetic mutations and patients with a clinical diagnosis of cerebral palsy should be genetically investigated before causation is ascribed to perinatal asphyxia or other aetiologies. PMID:25981959

  15. Restricted Arm Swing Affects Gait Stability and Increased Walking Speed Alters Trunk Movements in Children with Cerebral Palsy

    PubMed Central

    Delabastita, Tijs; Desloovere, Kaat; Meyns, Pieter

    2016-01-01

    Observational research suggests that in children with cerebral palsy, the altered arm swing is linked to instability during walking. Therefore, the current study investigates whether children with cerebral palsy use their arms more than typically developing children, to enhance gait stability. Evidence also suggests an influence of walking speed on gait stability. Moreover, previous research highlighted a link between walking speed and arm swing. Hence, the experiment aimed to explore differences between typically developing children and children with cerebral palsy taking into account the combined influence of restricting arm swing and increasing walking speed on gait stability. Spatiotemporal gait characteristics, trunk movement parameters and margins of stability were obtained using three dimensional gait analysis to assess gait stability of 26 children with cerebral palsy and 24 typically developing children. Four walking conditions were evaluated: (i) free arm swing and preferred walking speed; (ii) restricted arm swing and preferred walking speed; (iii) free arm swing and high walking speed; and (iv) restricted arm swing and high walking speed. Double support time and trunk acceleration variability increased more when arm swing was restricted in children with bilateral cerebral palsy compared to typically developing children and children with unilateral cerebral palsy. Trunk sway velocity increased more when walking speed was increased in children with unilateral cerebral palsy compared to children with bilateral cerebral palsy and typically developing children and in children with bilateral cerebral palsy compared to typically developing children. Trunk sway velocity increased more when both arm swing was restricted and walking speed was increased in children with bilateral cerebral palsy compared to typically developing children. It is proposed that facilitating arm swing during gait rehabilitation can improve gait stability and decrease trunk movements in

  16. Detection of Human Herpesvirus 6 and Varicella-Zoster Virus in Tear Fluid of Patients with Bell's Palsy by PCR

    PubMed Central

    Pitkäranta, A.; Piiparinen, H.; Mannonen, L.; Vesaluoma, M.; Vaheri, A.

    2000-01-01

    Human herpesvirus 6 DNA was detected by PCR in the tear fluid of 7 (35%) of 20 patients with Bell's palsy and of 1 (5%) of 20 healthy controls. Varicella-zoster virus was detected by PCR in the tear fluid of 2 of 20 Bell's palsy patients but in none of the tear fluids from 20 healthy controls. These findings suggest an association between human herpesviruses and Bell's palsy. PMID:10878079

  17. Botulinum Toxin Treatment for Limb Spasticity in Childhood Cerebral Palsy

    PubMed Central

    Pavone, Vito; Testa, Gianluca; Restivo, Domenico A.; Cannavò, Luca; Condorelli, Giuseppe; Portinaro, Nicola M.; Sessa, Giuseppe

    2016-01-01

    CP is the most common cause of chronic disability in childhood occurring in 2–2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX) has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects, and possible resistance as well as specific use in the upper and lower limbs muscles. PMID:26924985

  18. Rehabilitation of Bell's palsy patient with complete dentures

    PubMed Central

    Muthuvignesh, J.; Kumar, N. Suman; Reddy, D. Narayana; Rathinavelu, Pradeep; Egammai, S.; Adarsh, A.

    2015-01-01

    Facial nerve disorders may be of sudden onset and more often of unknown etiology. Edema of the facial nerve within the fallopian canal results in Bell's palsy. This causes compression of the nerve and affects the microcirculation. Many authors have suggested treatment for facial nerve paralysis ranging from simple physiotherapy to complicated microvascular decompression. It more often results in symptoms like synkinesis and muscle spasm after the decompression surgery of the nerve because of the inability to arrange the nerve fibers within the canal. The treatment choice also depends on patient's age, extent of the nerve damage, and patient's needs and desires. Many patients who cannot be rehabilitated functionally can be treated for esthetics of the involved muscles. This case report elaborates about a patient who was rehabilitated for esthetics and to some extent for function. PMID:26538967

  19. Retrospective Descriptive Study of Cerebral Palsy in Nepal.

    PubMed

    Thapa, Ritesh

    2016-07-01

    There is very little data pertaining to cerebral palsy (CP) from Nepal. In this retrospective study it was observed that dyskinetic CP was seen in 29 % and the sex ratio of males to females was two in the study population of children with CP. Both of these are much higher than data from developed countries. Hence, further randomized cross-sectional community based study is recommended to enquire into this pattern. Data regarding early identification was encouraging as majority of the cases (56 %) were diagnosed before 4 years of age. There is a stark necessity of early screening and rehabilitation program with provision for follow-up for the affected children, which must also be accessible to the disadvantaged and marginalized groups in Nepal. PMID:26944590

  20. Bilateral oculomotor nerve palsy in Guillain-Barre syndrome.

    PubMed

    Burina, Adnan; Sinanović, Osman; Smajlović, Dzevdet; Vidović, Mirjana

    2008-01-01

    Guillain-Barre syndrome (GBS) is an acquired immune-mediated inflammatory disorder of the peripheral nervous system. GBS is also called acute idiopathic polyradiculoneuritis. Cranial nerves are affected in over 50% of all cases, with the facial nerves being affected the most. Otherwise, oculomotor nerves affection is rare and might occur in about 10% of cases. In this case report we present 61 years old female with GBS (acute motor and sensory axonal neuropathy subtype) associated with bilateral oculomotor nerve palsy. At the admittance in the neurological status were flaccid paraplegia, tendon reflexes absent at legs and reduced at arms, sensory disturbances in a distal (stocking-glove) distribution and bilateral ptosis. The disease was diagnosed on clinical features, nerve conduction velocity test (NCV), electromyogram (EMG) and cerebrospinal fluid (CSF) tests. After treatment with intravenous immunoglobulins and physical treatment the patient improved. She was able to walk by her own, mild semiptosis remained and she had no paresthesia. PMID:18669237

  1. Exercise and Physical Activity Recommendations for People with Cerebral Palsy

    PubMed Central

    Peterson, Mark D.; Balemans, Astrid C.J.; Hurvitz, Edward A.

    2016-01-01

    Physical activity (PA) and its promotion, as well as the avoidance of sedentary behaviour play important roles in health promotion and prevention of lifestyle-related diseases. Guidelines for typically developing youth and adults published by the World Health Organization and American College of Sports Medicine are available. However, detailed recommendations for PA and sedentary behaviour have not been established for children, adolescents and adults with cerebral palsy (CP). This paper presents the first CP-specific PA and exercise recommendations. The recommendations are based on (1) a comprehensive review and analysis of the literature, (2) expert opinion and (3) extensive clinical experience. The evidence supporting these recommendations are based on randomized controlled trials and observational studies involving children, adolescents and adults with CP, and buttressed by the previous guidelines for the general population. These recommendations may be used to guide healthcare providers on exercise and daily PA prescription for individuals with CP. PMID:26853808

  2. Care of Adults With Intellectual and Developmental Disabilities: Cerebral Palsy.

    PubMed

    Jones, Kyle Bradford; Wilson, Benjamin; Weedon, Dean; Bilder, Deborah

    2015-12-01

    Cerebral palsy (CP) is a group of disorders that primarily affect motor function. This developmental disability is becoming more common in adults as life expectancy increases for individuals with CP. Many physical, medical, mental, and behavioral health conditions are associated with CP, and assistance should be provided to patients with CP to optimize function, when available. These comorbidities include intellectual disabilities, seizures, muscle contractures, abnormal gait, osteoporosis, communication disorders, malnutrition, sleep disorders, and mental health disorders, such as depression and anxiety. The physician should be familiar with screening for and assisting patients with these issues. Optimizing quality of life requires individualized care plans that may include physical therapy, muscle relaxants, surgery, and nutritional support. Other issues to be addressed include methods to facilitate employment; sexual concerns; and support through local and national organizations for patients, families, and caregivers. PMID:26669212

  3. Hemiplegic cerebral palsy: correlation between CT morphology and clinical findings.

    PubMed

    Wiklund, L M; Uvebrant, P

    1991-06-01

    Morphological findings on CT were compared with clinical features of 111 children with hemiplegic cerebral palsy. Periventricular atrophy, interpreted as periventricular leukomalacia, was the most prevalent CT finding, although this type of lesion did not indicate severity of neurological impairment. Maldevelopments were associated with arm-dominated hemiplegia and with a wider range of clinical impairments than previously described. Cortical/subcortical atrophy, less common than presumed, indicated arm-dominated hemiplegia and was associated with more severe impairment than were other CT findings. A normal CT scan indicated leg-dominated hemiplegia and mild impairment. The morphological information obtained by CT was found to be useful for predicting clinical outcome, and was considered an important adjunct to clinical history and findings in these children. PMID:1864477

  4. Cranial nerve VI palsy after dural-arachnoid puncture.

    PubMed

    Hofer, Jennifer E; Scavone, Barbara M

    2015-03-01

    In this article, we provide a literature review of cranial nerve (CN) VI injury after dural-arachnoid puncture. CN VI injury is rare and ranges in severity from diplopia to complete lateral rectus palsy with deviated gaze. The proposed mechanism of injury is cerebrospinal fluid leakage causing intracranial hypotension and downward displacement of the brainstem. This results in traction on CN VI leading to stretch and neural demyelination. Symptoms may present 1 day to 3 weeks after dural-arachnoid puncture and typically are associated with a postdural puncture (spinal) headache. Resolution of symptoms may take weeks to months. Use of small-gauge, noncutting spinal needles may decrease the risk of intracranial hypotension and subsequent CN VI injury. When ocular symptoms are present, early administration of an epidural blood patch may decrease morbidity or prevent progression of ocular symptoms. PMID:25695579

  5. Exercise and physical activity recommendations for people with cerebral palsy.

    PubMed

    Verschuren, Olaf; Peterson, Mark D; Balemans, Astrid C J; Hurvitz, Edward A

    2016-08-01

    Physical activity and its promotion, as well as the avoidance of sedentary behaviour, play important roles in health promotion and prevention of lifestyle-related diseases. Guidelines for young people and adults with typical development are available from the World Health Organisation and American College of Sports Medicine. However, detailed recommendations for physical activity and sedentary behaviour have not been established for children, adolescents, and adults with cerebral palsy (CP). This paper presents the first CP-specific physical activity and exercise recommendations. The recommendations are based on (1) a comprehensive review and analysis of the literature, (2) expert opinion, and (3) extensive clinical experience. The evidence supporting these recommendations is based on randomized controlled trials and observational studies involving children, adolescents, and adults with CP, and buttressed by the previous guidelines for the general population. These recommendations may be used to guide healthcare providers on exercise and daily physical activity prescription for individuals with CP. PMID:26853808

  6. Systemic inflammation and cerebral palsy risk in extremely preterm infants

    PubMed Central

    Kuban, KCK; O’Shea, TM; Allred, EN; Paneth, N; Hirtz, D; Fichorova, RN; Leviton, A

    2013-01-01

    We hypothesized that among extremely preterm infants, elevated concentrations of inflammation-related proteins in neonatal blood are associated with cerebral palsy (CP) at 24 months. Methods In 939 infants born before 28 weeks gestation, we measured blood concentrations of 25 proteins on postnatal days 1, 7, and 14 and evaluated associations between elevated protein concentrations and CP diagnosis. Results Protein elevations within three days of birth were not associated with CP. Elevations of TNF-α, TNF-R1, IL-8, ICAM-1, on at least two days were associated with diparesis. Recurrent-persistent elevations of IL-6, E-SEL, or IGFBP-1 were associated with hemiparesis. Diparesis and hemiparesis were more likely among infants who had at least four of nine proteins elevations that previously have been associated with cognitive impairment and microcephaly. Interpretation Repeated elevations of inflammation-related proteins during the first two postnatal weeks are associated with increased risk of CP. PMID:24646503

  7. Does perinatal asphyxia impair cognitive function without cerebral palsy?

    PubMed Central

    Gonzalez, F F; Miller, S P

    2006-01-01

    Some studies on neurodevelopmental outcomes after neonatal encephalopathy have suggested that cognitive deficits do not occur in the absence of cerebral palsy. It is increasingly apparent that childhood survivors of overt neonatal encephalopathy may have cognitive impairments, even in the absence of functional motor deficits. The risk of cognitive deficits is related to the severity of neonatal encephalopathy and the pattern of brain injury on neuroimaging, particularly the watershed pattern of injury. A better understanding of the risk factors for cognitive abnormalities after neonatal encephalopathy will ultimately lead to interventions to prevent these deficits. Identifying the full spectrum of neurodevelopmental outcomes after neonatal encephalopathy will also allow care givers to identify children requiring early intervention to maximise their potential for independent function throughout development. PMID:17056843

  8. REM sleep abnormalities in severe athetoid cerebral palsy.

    PubMed

    Hayashi, M; Inoue, Y; Iwakawa, Y; Sasaki, H

    1990-01-01

    Various abnormalities of sleep have been reported in extrapyramidal diseases in adults. We have investigated the disturbances of REM sleep (SREM) in severe athetoid cerebral palsy (ACP) originating perinatally. Ten ACP patients, 5 males and 5 females ranging from 15 to 30 years old, were studied by means of all-night polygraphic examination. Three cases showed a marked decrease in rapid eye movements in SREM. Moreover, the tone of submental muscle in SREM was also disturbed in three. Regarding body movements during sleep, gross movements and twitch movements of the submental muscle were analyzed. In most of the patients, an abnormal distribution of body movements according to sleep stages was observed, the rate being significantly reduced in SREM. REMs, atonia and body movements are considered to be related to the brainstem function in animals. The results of the present study suggest that perinatal extrapyramidal diseases could also coincide with brainstem dysfunctions. PMID:2288380

  9. Functional Connectivity Modulation by Acupuncture in Patients with Bell's Palsy

    PubMed Central

    He, Xiaoxuan; Hu, Sheng; Li, Chuanfu; Xu, Chunsheng; Kan, Hongxing; Xue, Qiuju; Qiu, Bensheng

    2016-01-01

    Bell's palsy (BP), an acute unilateral facial paralysis, is frequently treated with acupuncture in many countries. However, the mechanism of treatment is not clear so far. In order to explore the potential mechanism, 22 healthy volunteers and 17 BP patients with different clinical duration were recruited. The resting-state functional magnetic resonance imaging scans were conducted before and after acupuncture at LI4 (Hegu), respectively. By comparing BP-induced functional connectivity (FC) changes with acupuncture-induced FC changes in the patients, the abnormal increased FC that could be reduced by acupuncture was selected. The FC strength of the selected FC at various stages was analyzed subsequently. Our results show that FC modulation of acupuncture is specific and consistent with the tendency of recovery. Therefore, we propose that FC modulation by acupuncture may be beneficial to recovery from the disease. PMID:27293461

  10. Principles of Bobath neuro-developmental therapy in cerebral palsy.

    PubMed

    Klimont, L

    2001-01-01

    The purpose of this article is to present the basics of Bobath Neurodevelopment Therapy (NDT) for the rehabilitation of patients with cerebral palsy, based on the fundamentals of neurophysiology.
    Two factors are continually stressed in therapy: first, postural tension, whose quality provides the foundation for the development of motor coordination, both normal and pathological, and plays a role in shaping the mechanism of the normal postural reflex; and secondly, the impact of damage to the central nervous system on the process of its growth and development.
    The practical application of the theoretical assumptions includes the use of inhibition, facilitation, and stimulation by key points of control, preparatory to evoking more nearly normal motor responses. PMID:17984909

  11. Rehabilitation of Bell's palsy patient with complete dentures.

    PubMed

    Muthuvignesh, J; Kumar, N Suman; Reddy, D Narayana; Rathinavelu, Pradeep; Egammai, S; Adarsh, A

    2015-08-01

    Facial nerve disorders may be of sudden onset and more often of unknown etiology. Edema of the facial nerve within the fallopian canal results in Bell's palsy. This causes compression of the nerve and affects the microcirculation. Many authors have suggested treatment for facial nerve paralysis ranging from simple physiotherapy to complicated microvascular decompression. It more often results in symptoms like synkinesis and muscle spasm after the decompression surgery of the nerve because of the inability to arrange the nerve fibers within the canal. The treatment choice also depends on patient's age, extent of the nerve damage, and patient's needs and desires. Many patients who cannot be rehabilitated functionally can be treated for esthetics of the involved muscles. This case report elaborates about a patient who was rehabilitated for esthetics and to some extent for function. PMID:26538967

  12. Delayed diagnosed posterior interosseous nerve palsy due to intramuscular myxoma

    PubMed Central

    Kursumovic, A; Mattiassich, G; Rath, S

    2013-01-01

    We present a case of posterior interosseous nerve palsy after bowel surgery associated with intramuscular myxoma of the supinator muscle. The initial symptoms of swelling of the forearm made it difficult to distinguish the condition from extravasations after intravenous cannulation. The diagnosis was finally established with nerve conduction studies and MRI 3 months after symptom onset. The patient underwent surgery for removal of the tumour and decompression of the posterior interosseous nerve. The histological examination identified the tumour as intramuscular myxoma and the patient made a full recovery with no recurrence of the lesion until present. Every swelling on the forearm causing neurological disorders is tumour suspected and should be examined clinically as well as electrophysically and radiographically. Early surgery and nerve decompression should follow immediately after the diagnosis. In case of intramuscular myxoma, good recovery of function after surgery with low recurrence risk may be expected. PMID:23576649

  13. Botulinum Toxin Treatment for Limb Spasticity in Childhood Cerebral Palsy.

    PubMed

    Pavone, Vito; Testa, Gianluca; Restivo, Domenico A; Cannavò, Luca; Condorelli, Giuseppe; Portinaro, Nicola M; Sessa, Giuseppe

    2016-01-01

    CP is the most common cause of chronic disability in childhood occurring in 2-2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX) has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects, and possible resistance as well as specific use in the upper and lower limbs muscles. PMID:26924985

  14. Hip fusion as hip salvage procedure in cerebral palsy.

    PubMed

    Fucs, Patricia M De Moraes Barros; Yamada, Helder H

    2014-01-01

    The treatment of the spastic hip in Cerebral Palsy (CP) remains a challenge especially in cases of advance changes. Many options are available and the key for a good outcome is to find the best surgical procedure to an individualized patient. The hip fusion is one of the surgical options. The authors presented a group of spastic CP with painful chronic hip subluxation and dislocation treated with hip fusion with a mean follow-up period of 14.5 years. Surgical technique, post-operative management and outcomes were shown, also with the observations done regarding the evolution of the contralateral hip after the hip fusion. They concluded that the hip arthrodesis is an option for patients with spastic CP with painful subluxation or dislocated hips with the goal of pain relief maintain or improve functional status, and facilitating the care. The best candidate is a young ambulatory patient with normal contralateral hip and normal spinal alignment. PMID:25207734

  15. Therapeutic Potential of Autologous Stem Cell Transplantation for Cerebral Palsy

    PubMed Central

    Purandare, Chaitanya; Shitole, D. G.; Belle, Vaijayantee; Kedari, Aarti; Bora, Neeta; Joshi, Meghnad

    2012-01-01

    Background. Cerebral palsy (CP) is a severe disabling disease with worldwide incidence being 2 to 3 per 1000 live births. CP was considered as a noncurable, nonreparative disorder, but stem cell therapy offers a potential treatment for CP. Objective. The present study evaluates the safety and efficacy of autologous bone-marrow-derived mononuclear cell (BMMNCs) transplantation in CP patient. Material and Methods. In the present study, five infusions of autologous stem cells were injected intrathecally. Changes in neurological deficits and improvements in function were assessed using Gross Motor Function Classification System (GMFCS-E&R) scale. Results. Significant motor, sensory, cognitive, and speech improvements were observed. Bowel and bladder control has been achieved. On the GMFCS-E&R level, the patient was promoted from grade III to I. Conclusion. In this study, we report that intrathecal infusion of autologous BMMNCs seems to be feasible, effective, and safe with encouraging functional outcome improvements in CP patient. PMID:23259143

  16. Resolution of third nerve palsy despite persistent aneurysmal mass effect after flow diversion embolization of posterior communicating artery aneurysms.

    PubMed

    Binyamin, Tamar R; Dahlin, Brian C; Waldau, Ben

    2016-09-01

    Posterior communicating artery (PCOM) aneurysms may cause third nerve palsies. The optimal treatment with clipping versus coiling remains controversial. Here we report on two cases of resolution of third nerve palsy after flow diversion embolization of large and giant PCOM aneurysms without adjuvant coil placement. The resolution of third nerve palsy was not preceded by significant shrinkage of the aneurysmal sac on MRI. However, one patient showed resolution of T2-weighted signal abnormalities in the midbrain and mesial temporal lobe despite a similar size of the aneurysm. Therefore, flow diversion embolization of a PCOM aneurysm may resolve oculomotor nerve palsies through decreasing arterial pulsations against the nerve or midbrain. PMID:27183957

  17. CoQ10 in progressive supranuclear palsy

    PubMed Central

    Scala, Stephanie A.; Hamill, Robert W.; Simon, David K.; Pathak, Subash; Ruthazer, Robin; Standaert, David G.; Yacoubian, Talene A.

    2016-01-01

    Objective: An investigator-initiated, multicenter, randomized, placebo-controlled, double-blind clinical trial to determine whether coenzyme Q10 (CoQ10) is safe, well tolerated, and effective in slowing functional decline in progressive supranuclear palsy (PSP). Methods: Sixty-one participants received CoQ10 (2,400 mg/d) or placebo for up to 12 months. Progressive Supranuclear Palsy Rating Scale (PSPRS), Unified Parkinson's Disease Rating Scale, activities of daily living, Mini-Mental State Examination, the 39-item Parkinson's Disease Questionnaire, and 36-item Short Form Health Survey were monitored at baseline and months 3, 6, 9, and 12. The safety profile of CoQ10 was determined by adverse events, vital signs, and clinical laboratory values. Primary outcome measures were changes in PSPRS and Unified Parkinson's Disease Rating Scale scores from baseline to month 12. Results: CoQ10 was well tolerated. No statistically significant differences were noted between CoQ10 and placebo groups in primary or secondary outcome measures. A nonsignificant difference toward slower clinical decline in the CoQ10 group was observed in total PSPRS among those participants who completed the trial. Before the final study visit at 12 months, 41% of participants withdrew because of travel distance, lack of perceived benefit, comorbidities, or caregiver issues. Conclusions: High doses of CoQ10 did not significantly improve PSP symptoms or disease progression. The high withdrawal rate emphasizes the difficulty of conducting clinical trials in patients with PSP. ClinicalTrials.gov identifier: NCT00382824. Classification of evidence: This study provides Class II evidence that CoQ10 does not significantly slow functional decline in PSP. The study lacks the precision to exclude a moderate benefit of CoQ10. PMID:27583276

  18. Surgical Treatment Guidelines for Digital Deformity Associated With Intrinsic Muscle Spasticity (Intrinsic Plus Foot) in Adults With Cerebral Palsy.

    PubMed

    Boffeli, Troy J; Collier, Rachel C

    2015-01-01

    Intrinsic plus foot deformity has primarily been associated with cerebral palsy and involves spastic contracture of the intrinsic musculature with resultant toe deformities. Digital deformity is caused by a dynamic imbalance between the intrinsic muscles in the foot and extrinsic muscles in the lower leg. Spastic contracture of the toes frequently involves curling under of the lesser digits or contracture of the hallux into valgus or plantarflexion deformity. Patients often present with associated pressure ulcers, deformed toenails, shoe or brace fitting challenges, and pain with ambulation or transfers. Four different patterns of intrinsic plus foot deformity have been observed by the authors that likely relate to the different patterns of muscle involvement. Case examples are provided of the 4 patterns of intrinsic plus foot deformity observed, including global intrinsic plus lesser toe deformity, isolated intrinsic plus lesser toe deformity, intrinsic plus hallux valgus deformity, and intrinsic plus hallux flexus deformity. These case examples are presented to demonstrate each type of deformity and our approach for surgical management according to the contracture pattern. The surgical approach has typically involved tenotomy, capsulotomy, or isolated joint fusion. The main goals of surgical treatment are to relieve pain and reduce pressure points through digital realignment in an effort to decrease the risk of pressure sores and allow more effective bracing to ultimately improve the patient's mobility. PMID:25154656

  19. Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis.

    PubMed

    Marques, Pedro; Jacinto, Sandra; Pinto, Maria do Carmo; Limbert, Catarina; Lopes, Lurdes

    2016-01-01

    Pseudotumor cerebri (PTC) is defined by clinical criteria of increased intracranial pressure, elevated intracranial pressure with normal cerebrospinal fluid (CSF) composition, and exclusion of other causes such tumors, vascular abnormalities, or infections. The association of PTC with levothyroxine (LT4) has been reported. A 12-year-old boy has been followed up for autoimmune thyroiditis under LT4. Family history was irrelevant for endocrine or autoimmune diseases. A TSH level of 4.43 μUI/mL (0.39-3.10) motivated a LT4 adjustment from 75 to 88 μg/day. Five weeks later, he developed horizontal diplopia, convergent strabismus with left eye abduction palsy, and papilledema. Laboratorial evaluation revealed elevated free thyroxine level (1.05 ng/dL [0.65-1.01]) and low TSH, without other alterations. Lumbar puncture was performed and CSF opening pressure was 24 cm H2O with normal composition. Blood and CSF cultures were sterile. Brain MRI was normal. LT4 was temporarily discontinued and progressive improvement was observed, with a normal fundoscopy at day 10 and reversion of diplopia one month later. LT4 was restarted at lower dose and gradually titrated. The boy is currently asymptomatic. This case discloses the potential role of LT4 in inducing PTC. Despite its rarity and unclear association, PTC must be seen as a potential complication of LT4, after excluding all other intracranial hypertension causes. PMID:27379191

  20. Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis

    PubMed Central

    Pinto, Maria do Carmo; Limbert, Catarina; Lopes, Lurdes

    2016-01-01

    Pseudotumor cerebri (PTC) is defined by clinical criteria of increased intracranial pressure, elevated intracranial pressure with normal cerebrospinal fluid (CSF) composition, and exclusion of other causes such tumors, vascular abnormalities, or infections. The association of PTC with levothyroxine (LT4) has been reported. A 12-year-old boy has been followed up for autoimmune thyroiditis under LT4. Family history was irrelevant for endocrine or autoimmune diseases. A TSH level of 4.43 μUI/mL (0.39–3.10) motivated a LT4 adjustment from 75 to 88 μg/day. Five weeks later, he developed horizontal diplopia, convergent strabismus with left eye abduction palsy, and papilledema. Laboratorial evaluation revealed elevated free thyroxine level (1.05 ng/dL [0.65–1.01]) and low TSH, without other alterations. Lumbar puncture was performed and CSF opening pressure was 24 cm H2O with normal composition. Blood and CSF cultures were sterile. Brain MRI was normal. LT4 was temporarily discontinued and progressive improvement was observed, with a normal fundoscopy at day 10 and reversion of diplopia one month later. LT4 was restarted at lower dose and gradually titrated. The boy is currently asymptomatic. This case discloses the potential role of LT4 in inducing PTC. Despite its rarity and unclear association, PTC must be seen as a potential complication of LT4, after excluding all other intracranial hypertension causes. PMID:27379191

  1. Effect of a single session of transcranial direct-current stimulation combined with virtual reality training on the balance of children with cerebral palsy: a randomized, controlled, double-blind trial

    PubMed Central

    Lazzari, Roberta Delasta; Politti, Fabiano; Santos, Cibele Alimedia; Dumont, Arislander Jonathan Lopes; Rezende, Fernanda Lobo; Grecco, Luanda André Collange; Braun Ferreira, Luiz Alfredo; Oliveira, Claudia Santos

    2015-01-01

    [Purpose] The aim of the present study was to investigate the effects of a single session of transcranial direct current stimulation combined with virtual reality training on the balance of children with cerebral palsy. [Subjetcs and Methods] Children with cerebral palsy between four and 12 years of age were randomly allocated to two groups: an experimental group which performed a single session of mobility training with virtual reality combined with active transcranial direct current stimulation; and a control group which performed a single session of mobility training with virtual reality combined with placebo transcranial direct current stimulation. The children were evaluated before and after the training protocols. Static balance (sway area, displacement, velocity and frequency of oscillations of the center of pressure on the anteroposterior and mediolateral axes) was evaluated using a force plate under four conditions (30-second measurements for each condition): feet on the force plate with the eyes open, and with the eyes closed; feet on a foam mat with the eyes open, and with the eyes closed. [Results] An increase in sway velocity was the only significant difference found. [Conclusion] A single session of anodal transcranial direct current stimulation combined with mobility training elicited to lead to an increase in the body sway velocity of children with cerebral palsy. PMID:25931726

  2. Effect of Cardiorespiratory Training on Aerobic Fitness and Carryover to Activity In Children with Cerebral Palsy: A Systematic Review

    ERIC Educational Resources Information Center

    Butler, Jane M.; Scianni, Aline; Ada, Louise

    2010-01-01

    The question under consideration was does cardiorespiratory training improve aerobic fitness in children with cerebral palsy and is there any carryover into activity? The study design consisted of a systematic review of randomized trials using the Cochrane Collaboration guidelines. Participants were children of school age with cerebral palsy.…

  3. Description and Psychometric Properties of the CP QOL-Teen: A Quality of Life Questionnaire for Adolescents with Cerebral Palsy

    ERIC Educational Resources Information Center

    Davis, Elise; Mackinnon, Andrew; Davern, Melanie; Boyd, Roslyn; Bohanna, India; Waters, Elizabeth; Graham, H. Kerr; Reid, Susan; Reddihough, Dinah

    2013-01-01

    To assess the measurement properties of a new QOL instrument, the Cerebral Palsy Quality of Life Questionnaire-Teen (CP QOL-Teen), in adolescents with cerebral palsy (CP) aged 13-18 years, examining domain structure, reliability, validity and adolescent-caregiver concordance. Based on age, 695 eligible families were invited to participate by mail.…

  4. Constraint-Induced Movement Therapy for Children with Obstetric Brachial Plexus Palsy: Two Single-Case Series

    ERIC Educational Resources Information Center

    Buesch, Francisca Eugster

    2010-01-01

    The objective of this pilot study was to investigate the feasibility of constraint-induced movement therapy (CIMT) in children with obstetric brachial plexus palsy and receive preliminary information about functional improvements. Two patients (age 12 years) with obstetric brachial plexus palsy were included for a 126-h home-based CIMT…

  5. Cerebral Palsy: General Information. Fact Sheet Number 2 = La Paralisis Cerebral: Informacion General. Fact Sheet Number 18.

    ERIC Educational Resources Information Center

    Interstate Research Associates, McLean, VA.

    This fact sheet on cerebral palsy is offered in both English and Spanish. First, it provides a definition and considers various causes (e.g., an insufficient amount of oxygen reaching the fetal or newborn brain). The fact sheet then offers incidence figures and explains characteristics of the three main types of cerebral palsy: spastic, athetoid,…

  6. Physical Activity in the Life of a Woman with Cerebral Palsy: Physiotherapy, Social Exclusion, Competence, and Intimacy

    ERIC Educational Resources Information Center

    Gaskin, Cadeyrn J.; Andersen, Mark B.; Morris, Tony

    2012-01-01

    Although physical activity can have substantial mental and physical health benefits, people with cerebral palsy usually lead sedentary lives. To understand, at an individual level, this inactivity, we interviewed a 29-year-old minimally active woman with cerebral palsy (Alana) about the meanings and experiences of physical activity throughout her…

  7. The Use of Computers and Augmentative and Alternative Communication Devices by Children and Young with Cerebral Palsy

    ERIC Educational Resources Information Center

    Garcia, Thais Pousada; Loureiro, Javier Pereira; Gonzalez, Betania Groba; Riveiro, Laura Nieto; Sierra, Alejandro Pazos

    2011-01-01

    The purpose of the study was to determine the use of computers and assistive devices amongst children with cerebral palsy (CP) and establish the satisfaction level of both users and educational staff. The study was carried out with 30 children with cerebral palsy. A questionnaire was designed to characterize the use of new technologies and…

  8. Trends in Prevalence and Characteristics of Post-Neonatal Cerebral Palsy Cases: A European Registry-Based Study

    ERIC Educational Resources Information Center

    Germany, Laurence; Ehlinger, Virginie; Klapouszczak, Dana; Delobel, Malika; Hollody, Katalin; Sellier, Elodie; De La Cruz, Javier; Alberge, Corine; Genolini, Christophe; Arnaud, Catherine

    2013-01-01

    The present paper aims to analyze trends over time in prevalence of cerebral palsy of post-neonatal origin, to investigate whether changes are similar according to severity and to describe the disability profile by etiology. Post-neonatal cases, birth years 1976 to 1998, were identified from the Surveillance of Cerebral Palsy in Europe…

  9. Classification of Speech and Language Profiles in 4-Year-Old Children with Cerebral Palsy: A Prospective Preliminary Study

    ERIC Educational Resources Information Center

    Hustad, Katherine C.; Gorton, Kristin; Lee, Jimin

    2010-01-01

    Purpose: In this study, the authors proposed and tested a preliminary speech and language classification system for children with cerebral palsy. Method: Speech and language assessment data were collected in a laboratory setting from 34 children with cerebral palsy (CP; 18 male, 16 female) with a mean age of 54 months (SD = 1.8). Measures of…

  10. Impaired visually guided weight-shifting ability in children with cerebral palsy.

    PubMed

    Ballaz, Laurent; Robert, Maxime; Parent, Audrey; Prince, François; Lemay, Martin

    2014-09-01

    The ability to control voluntary weight shifting is crucial in many functional tasks. To our knowledge, weight shifting ability in response to a visual stimulus has never been evaluated in children with cerebral palsy (CP). The aim of the study was (1) to propose a new method to assess visually guided medio-lateral (M/L) weight shifting ability and (2) to compare weight-shifting ability in children with CP and typically developing (TD) children. Ten children with spastic diplegic CP (Gross Motor Function Classification System level I and II; age 7-12 years) and 10 TD age-matched children were tested. Participants played with the skiing game on the Wii Fit game console. Center of pressure (COP) displacements, trunk and lower-limb movements were recorded during the last virtual slalom. Maximal isometric lower limb strength and postural control during quiet standing were also assessed. Lower-limb muscle strength was reduced in children with CP compared to TD children and postural control during quiet standing was impaired in children with CP. As expected, the skiing game mainly resulted in M/L COP displacements. Children with CP showed lower M/L COP range and velocity as compared to TD children but larger trunk movements. Trunk and lower extremity movements were less in phase in children with CP compared to TD children. Commercially available active video games can be used to assess visually guided weight shifting ability. Children with spastic diplegic CP showed impaired visually guided weight shifting which can be explained by non-optimal coordination of postural movement and reduced muscular strength. PMID:24858794

  11. Arterial Structure and Function in Ambulatory Adolescents with Cerebral Palsy Are Not Different from Healthy Controls

    PubMed Central

    Martin, Audra A.; Cotie, Lisa M.; Timmons, Brian W.; Gorter, Jan Willem; MacDonald, Maureen J.

    2012-01-01

    Physical inactivity in youth with cerebral palsy (CP) places them at increased risk of developing cardiovascular disease. The current study assessed indices of arterial health in adolescents with CP, classified as levels I-II of the Gross Motor Function Classification System (GMFCS) (n = 11, age 13.2 ± 2.1 yr), in comparison to age- and sex-matched controls (n = 11, age 12.4 ± 2.3 yr). Groups were similar in anthropometric measurements, resting blood pressures, and heart rates. There were no group differences in brachial flow-mediated dilation (11.1 ± 7.8 versus 6.1 ± 3.6), carotid intima-media thickness (0.42 ± 0.04 versus 0.41 ± 0.03 mm), and distensibility (0.008 ± 0.002 versus 0.008 ± 0.002 mmHg) or central (4.3 ± 0.6 versus 4.1 ± 0.9 m/s) and peripheral pulse wave velocity (7.1 ± 1.7 versus 7.6 ± 1.1 m/s); CP versus healthy controls, respectively. Vigorous intensity physical activity (PA) was lower in the CP group (CP: 38 ± 80 min versus controls: 196 ± 174 min); groups were similar in light and moderate intensity PA levels. Arterial health of ambulatory youth with CP is not different from a control group despite lower vigorous PA levels. Similar studies need to examine individuals with more pronounced mobility limitations (GMFCS level III–V). PMID:22778755

  12. Leg and Joint Stiffness in Children with Spastic Diplegic Cerebral Palsy during Level Walking

    PubMed Central

    Wang, Ting-Ming; Huang, Hsing-Po; Li, Jia-Da; Hong, Shih-Wun; Lo, Wei-Ching; Lu, Tung-Wu

    2015-01-01

    Individual joint deviations are often identified in the analysis of cerebral palsy (CP) gait. However, knowledge is limited as to how these deviations affect the control of the locomotor system as a whole when striving to meet the demands of walking. The current study aimed to bridge the gap by describing the control of the locomotor system in children with diplegic CP in terms of their leg stiffness, both skeletal and muscular components, and associated joint stiffness during gait. Twelve children with spastic diplegia CP and 12 healthy controls walked at a self-selected pace in a gait laboratory while their kinematic and forceplate data were measured and analyzed during loading response, mid-stance, terminal stance and pre-swing. For calculating the leg stiffness, each of the lower limbs was modeled as a non-linear spring, connecting the hip joint center and the corresponding center of pressure, with varying stiffness that was calculated as the slope (gradient) of the axial force vs. the deformation curve. The leg stiffness was further decomposed into skeletal and muscular components considering the alignment of the lower limb. The ankle, knee and hip of the limb were modeled as revolute joints with torsional springs whose stiffness was calculated as the slope of the moment vs. the angle curve of the joint. Independent t-tests were performed for between-group comparisons of all the variables. The CP group significantly decreased the leg stiffness but increased the joint stiffness during stance phase, except during terminal stance where the leg stiffness was increased. They appeared to rely more on muscular contributions to achieve the required leg stiffness, increasing the muscular demands in maintaining the body posture against collapse. Leg stiffness plays a critical role in modulating the kinematics and kinetics of the locomotor system during gait in the diplegic CP. PMID:26629700

  13. Detection of third and sixth cranial nerve palsies with a novel method for eye tracking while watching a short film clip

    PubMed Central

    Samadani, Uzma; Farooq, Sameer; Ritlop, Robert; Warren, Floyd; Reyes, Marleen; Lamm, Elizabeth; Alex, Anastasia; Nehrbass, Elena; Kolecki, Radek; Jureller, Michael; Schneider, Julia; Chen, Agnes; Shi, Chen; Mendhiratta, Neil; Huang, Jason H.; Qian, Meng; Kwak, Roy; Mikheev, Artem; Rusinek, Henry; George, Ajax; Fergus, Robert; Kondziolka, Douglas; Huang, Paul P.; Smith, R. Theodore

    2015-01-01

    patients with known CN III palsy had significantly decreased ratios of 0.19 and 0.06, respectively. Three patients with surgically treatable pathological conditions impacting CN VI, such as infratentorial mass effect or hydrocephalus, had significantly increased ratios (1.84, 1.44, and 1.34, respectively) relative to normal controls, and 6 patients with supratentorial mass effect had significantly decreased ratios (0.27, 0.53, 0.62, 0.45, 0.49, and 0.41, respectively). These alterations in eye tracking all reverted to normal ranges after surgical treatment of underlying pathological conditions in these 9 neurosurgical cases. CONCLUSIONS This proof of concept series of cases suggests that the use of eye tracking to detect CN palsy while the patient watches television or its equivalent represents a new capacity for this technology. It may provide a new tool for the assessment of multiple CNS functions that can potentially be useful in the assessment of awake patients with elevated intracranial pressure from hydrocephalus or trauma. PMID:25495739

  14. Oculomotor Nerve Palsy as a Rare Presentation and First Sign of Multiple Myeloma.

    PubMed

    Panda, Bijnya Birajita; Parija, Sucheta; Mallick, Jyotiranjan; Pujahari, Susanta

    2016-05-01

    Acquired oculomotor nerve palsy has varied aetiologies like vascular (diabetes, heart disease, atherosclerosis and posterior communicating artery aneurysm), space occupying lesions or tumours, inflammation, infection, trauma, demyelinating disease like Multiple sclerosis, autoimmune disorders such as Myasthenia gravis, postoperatively as a complication of neurosurgery, cavernous sinus thrombosis etc. Cranial Nerve palsies as one of the first symptoms of multiple myeloma have been reported sparsely in literature. We report a case of a 60-year-old woman who developed sudden onset right-sided pupil sparing oculomotor nerve palsy along with a tender swelling at right sternoclavicular joint. Cranial and orbital magnetic resonance imaging and cerebrospinal fluid examination demonstrated no abnormalities. Immunological investigations and histopathological analysis of sternoclavicular joint swelling confirmed the diagnosis of IgG type multiple myeloma. After confirmation of diagnosis we started her with appropriate chemotherapy, after which the palsy resolved within one month. The cause of the palsy was probably due to nerve ischemia due to hyper viscosity of the serum. PMID:27437257

  15. Resting position of the head and malocclusion in a group of patients with cerebral palsy

    PubMed Central

    Martinez-Mihi, Victoria; Orellana, Lorena M.; Silvestre-Rangil, Javier

    2014-01-01

    Cerebral palsy are found as a result of these disorders, along with associated neuromuscular functional alterations that affect the resting position of the head. In this context, the resting position of the head could be responsible for several skeletal and dental occlusal disorders among patients with cerebral palsy. Objective: To assess the presence of malocclusions in patients with cerebral palsy, define the most frequent types of malocclusions, and evaluate how the resting position of the head may be implicated in the development of such malocclusions. Study design: Forty-four patients aged between 12-55 years (18 males and 26 females) were studied. Occlusal conditions, the Dental Aesthetic Index (DAI), changes in the resting position of the head, and breathing and swallowing functions were assessed. Results: Orthodontic treatment was required by 70.8% of the patients, the most frequent malocclusions being molar class II, open bite and high overjet. These individuals showed altered breathing and swallowing functions, as well as habit and postural disorders. The resting position of the head, especially the hyperextended presentation, was significantly correlated to high DAI scores. Conclusions: The results obtained suggest that patients with cerebral palsy are more susceptible to present malocclusions, particularly molar class II malocclusion, increased open bite, and high overjet. Such alterations in turn are more common in patients with a hyperextended position of the head. Key words:Cerebral palsy, malocclusion, head position, disabled patients. PMID:24596627

  16. Interpeduncular fossa lipoma: a novel cause of oculomotor nerve palsy in childhood.

    PubMed

    Malone, Jay R; Bogie, Amanda; Crittenden-Byers, Cathryn

    2012-02-01

    Oculomotor nerve palsy is a rare finding in children and, when reported, is most frequently either congenital or acquired from postnatal trauma, infection, aneurysm, or migraine. Intracranial lipomas also represent an uncommon finding in children, and although their development is not completely understood, they are now thought to be congenital in nature. Here, we describe the case of a 23-month-old boy presenting to the emergency department with left-sided, complete, pupil-involving oculomotor nerve palsy. On magnetic resonance imaging, he was found to have an intracranial lipoma of the left interpeduncular fossa. The patient had gradual and spontaneous improvement of symptoms, with complete resolution reported at the 4-month follow-up visit. However, a second magnetic resonance image at 6 months revealed that the lipoma did not change in size. To our knowledge, intracranial lipomas have been previously reported as a possible cause of partial oculomotor nerve palsy in only one adult and have never been reported in a child. In addition, we did not find any reports of intracranial lipomas as a cause of complete, pupil-involving oculomotor palsy, although they are known to cause other cranial nerve pathology. We conclude that intracranial lipomas, although rare, should be considered in the differential diagnosis for oculomotor nerve palsy in children. Further investigation is needed to determine the true incidence of this association. PMID:22307184

  17. Delivering healthcare services to children with cerebral palsy and their families: a narrative review.

    PubMed

    Hayles, Emily; Jones, Anne; Harvey, Desley; Plummer, David; Ruston, Sally

    2015-05-01

    Children with cerebral palsy have complex healthcare needs and often require complex multidisciplinary care. It is important for clinicians to understand which approaches to healthcare service delivery for this population are supported in the literature and how these should be applied in clinical practice. This narrative review aims to identify and review the evidence for current approaches to healthcare service delivery for children with cerebral palsy. Databases were searched using key terms to identify relevant research articles and grey literature from December 2011 to September 2013. Search results were screened and sorted according to inclusion and exclusion criteria. Thirty-two documents were included for evaluation and their content was analysed thematically. Three current approaches to healthcare service delivery for children with cerebral palsy identified in this narrative review were family-centred care, the World Health Organisation's International Classification of Functioning, Disability and Health, and collaborative community-based primary care. However, healthcare services for children with cerebral palsy and their families are inconsistently delivered according to these approaches and the identified guidelines or standards of care for children with cerebral palsy have limited incorporation of these approaches. Future research is required to investigate how these approaches to healthcare service delivery can be integrated into clinical practices to enable clinicians to improve services for this population. PMID:25175322

  18. Autologous Cord Blood Therapy for Infantile Cerebral Palsy: From Bench to Bedside

    PubMed Central

    Jensen, A.

    2014-01-01

    About 17 million people worldwide live with cerebral palsy, the most common disability in childhood, with hypoxic-ischemic encephalopathy, preterm birth, and low birth weight being the most important risk factors. This review will focus on recent developments in cell therapy for infantile cerebral palsy by transplantation of autologous umbilical cord blood. There are only 4 publications available at present; however, the observations made along with experimental data in vivo and in vitro may be of utmost importance clinically, so that a review at an early developmental stage of this new therapeutic concept seems justified. Particularly, since the first published double-blind randomized placebo-controlled trial in a paradigm using allogeneic cord blood and erythropoietin to treat cerebral palsy under immunosuppression showed beneficial therapeutic effects in infantile cerebral palsy, long-held doubts about the efficacy of this new cell therapy are dispelled and a revision of therapeutic views upon an ailment, for which there is no cure at present, is warranted. Hence, this review will summarize the available information on autologous cord blood therapy for cerebral palsy and that on the relevant experimental work as far as potential mechanisms and modes of action are concerned. PMID:24695413

  19. Correlation between MRI and Operative Findings in Bell's Palsy and Ramsay Hunt Syndrome

    PubMed Central

    Kim, In Sup; Shin, Seung-Ho; Kim, Jinna; Lee, Won-Sang

    2007-01-01

    Purpose To investigate the correlation between gadolinium enhanced magnetic resonance image (MRI) results and surgical findings of facial nerves in Bell's palsy and Ramsay Hunt syndrome. Materials and Methods From 1995 to 2004, MRI was performed on 13 patients with Bell's palsy or Ramsay Hunt syndrome, who were offered with surgical decompression of the facial nerve through the middle cranial fossa approach. Gadolinium enhanced MRI was performed on all patients and the enhancement of the facial nerve was evaluated by radiology specialists. Operative findings including the degree of the facial nerve segment swelling were examined. Furthermore, the time interval from the onset of palsy to surgery was evaluated. Results Swelling of facial nerve segments was found in patients with enhanced facial nerves from MRI. The swelling of the facial nerve in the labyrinthine segment in particular was identified in all patients with enhanced labyrinthine segments in MRI. The intraoperative swelling of geniculate ganglion of facial nerve was found in 78% of patients with enhanced facial segment in MRI (p = 0.01). The intraoperative swelling of tympanic segment was observed from fourth to ninth weeks after the onset of palsy. Conclusion MRI enhancement of facial nerves in Bell's palsy and Ramsay Hunt syndrome is associated with the extent of intratemporal lesions of facial nerves, especially in the labyrinthine segment. PMID:18159587

  20. Development of The Viking Speech Scale to classify the speech of children with cerebral palsy.

    PubMed

    Pennington, Lindsay; Virella, Daniel; Mjøen, Tone; da Graça Andrada, Maria; Murray, Janice; Colver, Allan; Himmelmann, Kate; Rackauskaite, Gija; Greitane, Andra; Prasauskiene, Audrone; Andersen, Guro; de la Cruz, Javier

    2013-10-01

    Surveillance registers monitor the prevalence of cerebral palsy and the severity of resulting impairments across time and place. The motor disorders of cerebral palsy can affect children's speech production and limit their intelligibility. We describe the development of a scale to classify children's speech performance for use in cerebral palsy surveillance registers, and its reliability across raters and across time. Speech and language therapists, other healthcare professionals and parents classified the speech of 139 children with cerebral palsy (85 boys, 54 girls; mean age 6.03 years, SD 1.09) from observation and previous knowledge of the children. Another group of health professionals rated children's speech from information in their medical notes. With the exception of parents, raters reclassified children's speech at least four weeks after their initial classification. Raters were asked to rate how easy the scale was to use and how well the scale described the child's speech production using Likert scales. Inter-rater reliability was moderate to substantial (k>.58 for all comparisons). Test-retest reliability was substantial to almost perfect for all groups (k>.68). Over 74% of raters found the scale easy or very easy to use; 66% of parents and over 70% of health care professionals judged the scale to describe children's speech well or very well. We conclude that the Viking Speech Scale is a reliable tool to describe the speech performance of children with cerebral palsy, which can be applied through direct observation of children or through case note review. PMID:23891732

  1. Bilateral facial nerve palsy as the sole initial symptom of syphilis: a case report.

    PubMed

    Ting, Chi-Hsin; Wang, Chih-Wei; Lee, Jiunn-Tay; Peng, Giia-Sheun; Yang, Fu-Chi

    2015-09-01

    Bilateral facial nerve palsy is an exceedingly rare condition and presents a diagnostic challenge. Bilateral facial nerve palsy may result from cranial trauma, congenital abnormalities, inflammation, infiltration, or infection, but is rarely associated with syphilis. Here, we report a case of syphilis in which bilateral facial nerve palsy was the only initial symptom. A 22-year-old man presented at our emergency department with isolated bilateral facial nerve palsy. Results for initial serum and cerebrospinal fluid examinations were normal, including the rapid plasma reagin titer. One week later, the patient developed rashes on the torso, palms, and soles. At this time, a high serum rapid plasma reagin titer was detected, and the Treponema pallidum particle agglutination test was positive. Once the tests were confirmed, the patient admitted to a history of unprotected sexual behavior. Penicillin G treatment was effective, and a 3-month follow-up examination demonstrated a complete recovery. We recommend that syphilis be considered when diagnosing sexually experienced young men presenting with bilateral facial nerve palsy, even in the absence of skin manifestations. Failure to recognize facial signs of syphilis could result in inappropriate management, affecting the patient's clinical outcome. PMID:26166431

  2. Oculomotor Nerve Palsy as a Rare Presentation and First Sign of Multiple Myeloma

    PubMed Central

    Parija, Sucheta; Mallick, Jyotiranjan; Pujahari, Susanta

    2016-01-01

    Acquired oculomotor nerve palsy has varied aetiologies like vascular (diabetes, heart disease, atherosclerosis and posterior communicating artery aneurysm), space occupying lesions or tumours, inflammation, infection, trauma, demyelinating disease like Multiple sclerosis, autoimmune disorders such as Myasthenia gravis, postoperatively as a complication of neurosurgery, cavernous sinus thrombosis etc. Cranial Nerve palsies as one of the first symptoms of multiple myeloma have been reported sparsely in literature. We report a case of a 60-year-old woman who developed sudden onset right-sided pupil sparing oculomotor nerve palsy along with a tender swelling at right sternoclavicular joint. Cranial and orbital magnetic resonance imaging and cerebrospinal fluid examination demonstrated no abnormalities. Immunological investigations and histopathological analysis of sternoclavicular joint swelling confirmed the diagnosis of IgG type multiple myeloma. After confirmation of diagnosis we started her with appropriate chemotherapy, after which the palsy resolved within one month. The cause of the palsy was probably due to nerve ischemia due to hyper viscosity of the serum. PMID:27437257

  3. Novel transcriptional profile in wrist muscles from cerebral palsy patients

    PubMed Central

    Smith, Lucas R; Pontén, Eva; Hedström, Yvette; Ward, Samuel R; Chambers, Henry G; Subramaniam, Shankar; Lieber, Richard L

    2009-01-01

    Background Cerebral palsy (CP) is an upper motor neuron disease that results in a progressive movement disorder. Secondary to the neurological insult, muscles from CP patients often become spastic. Spastic muscle is characterized by an increased resistance to stretch, but often develops the further complication of contracture which represents a prominent disability in children with CP. This study's purpose is to characterize alterations of spastic muscle on the transcriptional level. Increased knowledge of spastic muscle may lead to novel therapies to improve the quality of life for children with CP. Method The transcriptional profile of spastic muscles were defined in children with cerebral palsy and compared to control patients using Affymetrix U133A chips. Expression data were verified using quantitative-PCR (QPCR) and validated with SDS-PAGE for select genes. Significant genes were determined using a 2 × 2 ANOVA and results required congruence between 3 preprocessing algorithms. Results CP patients clustered independently and 205 genes were significantly altered, covering a range of cellular processes. Placing gene expression in the context of physiological pathways, the results demonstrated that spastic muscle in CP adapts transcriptionally by altering extracellular matrix, fiber type, and myogenic potential. Extracellular matrix adaptations occur primarily in the basal lamina although there is increase in fibrillar collagen components. Fiber type is predominately fast compared to normal muscle as evidenced by contractile gene isoforms and decrease in oxidative metabolic gene transcription, despite a paradoxical increased transcription of slow fiber pathway genes. We also found competing pathways of fiber hypertrophy with an increase in the anabolic IGF1 gene in parallel with a paradoxical increase in myostatin, a gene responsible for stopping muscle growth. We found evidence that excitation-contraction coupling genes are altered in muscles from patients with

  4. Sleep and Children with Cerebral Palsy: A Review of Current Evidence and Environmental Non-Pharmacological Interventions

    PubMed Central

    Dutt, Risha; Roduta-Roberts, Mary; Brown, Cary A.

    2015-01-01

    Between 23%–46% of children with cerebral palsy experience sleep problems. Many of the sensory-motor and cognitive features of cerebral palsy (such as immobility, pain, and seizures) act as predisposing factors for sleep problems in this population. This paper presents the background related to the etiology and consequences of sleep problems in children with cerebral palsy. The relationship between pain and sleep is emphasized, as the risk of pain is highly prevalent in children with cerebral palsy. The review concludes with a discussion of the evidence-base for environmental non-pharmacological interventions based on light, temperature, sound and bedding to promote sleep for children with cerebral palsy. PMID:27417351

  5. Blood pressure

    MedlinePlus Videos and Cool Tools

    Normal blood pressure is important for proper blood flow to the body’s organs and tissues. The force of the blood on the walls of the arteries is called blood pressure. Blood pressure is measured both as the heart ...

  6. Blood pressure

    MedlinePlus Videos and Cool Tools

    Normal blood pressure is important for proper blood flow to the body’s organs and tissues. The force of the blood on the walls of the arteries is called blood pressure. Blood pressure is measured both ...

  7. Ocular palsies of obscure origin in South East Asia

    PubMed Central

    Tay, C. H.; Tan, Y. T.; Cheah, J. S.; Ransome, G. A.

    1974-01-01

    The clinical and laboratory findings are presented of 14 patients who were recently found to have an obscure form of ocular palsy during a three year study in Singapore. The disease, which has no predilection for any age groups, races, occupations, or sex, often manifests with acute onset of unilateral or bilateral cranial nerve paralysis involving the 3rd, 4th, 6th, first two branches of the 5th, and sometimes, the 2nd cranial nerve in various combinations. Major symptoms were diplopia, ptosis, giddiness, headache, facial numbness, proptosis, retro-orbital pain, chemosis, conjunctival irritation, blurred vision, and/or progressive blindness. Systemic complications were rare. Except for a raised erythrocyte sedimentation rate during the acute phase, exhaustive investigations—but short of a surgical exploration—were essentially noncontributory. All cleared up within two to four weeks, nine patients had spontaneous remission, while five improved only after a course of systemic corticosteroids. Two cases were left with some residual neurological deficits and one in this series had a relapse two years later. The relationship of this condition to those described outside South East Asia is discussed.

  8. Retroclival Pneumocephalus Associated with Bilateral Abducens Palsy in a Child.

    PubMed

    Paiva, Aline Lariessy Campos; de Aguiar, Guilherme Brasileiro; Ferraz, Vinicius Riccieri; Araújo, João Luiz Vitorino; Toita, Milton Hikaro; Veiga, José Carlos Esteves

    2016-01-01

    Traumatic brain injury (TBI) is less common in children than in adults. Posterior fossa lesions are even more uncommon, but, when present, are usually epidural hematomas. These lesions, even when small, may have a bad outcome because of the possibility of compression of the important structures that the infratentorial compartment contains, such as the brainstem and cranial nerves, and the constriction of the fourth ventricle, causing acute hydrocephalus. Although unusual, posterior fossa lesions are increasingly being diagnosed because of the better quality of and easier access to cranial tomography. In this paper, we report a case of a 12-year-old male patient who had suffered a TBI and presented with several pneumocephali, one of them in the retroclival region, causing a mass effect and then compression of the sixth cranial nerve which is the most susceptible to these injuries. We discuss these traumatic posterior fossa lesions, with an emphasis on retroclival pneumocephalus, not yet described in the literature in association with bilateral abducens palsy. In addition, we discuss associated lesions and the trauma mechanism. PMID:27193585

  9. Peripheral Facial Palsy: Does Patients' Religiousness Matter for the Otorhinolaryngologist?

    PubMed

    Lucchetti, Giancarlo; De Rossi, Janaina; Gonçalves, Juliane P B; Lucchetti, Alessandra L Granero

    2016-06-01

    In order to deal with the suffering, a frequent strategy employed by patients is the use of religious beliefs and behaviors. Nevertheless, few studies in otorhinolaryngology have investigated this dimension. Therefore, the present study aims to investigate the role of religiousness on quality of life, mental health, self-esteem and appearance in 116 patients with peripheral facial palsy (PFP). A cross-sectional, single-center study was carried out between 2010 and 2012 in PFP outpatients. We assessed socio-demographic data, PFP characteristics, depression, anxiety, quality of life, self-esteem, appearance and religiosity. A linear regression (adjusted for confounders) was performed to investigate whether religiosity was associated with any outcomes. The present study found that religious attendance, but not other types of religiousness, was related to quality of life and mental health on PFP patients. In addition, ENT patients would like their doctors to ask them about their faith and religion as part of their medical care. These findings give further support to the importance of religious and spiritual beliefs on ENT patients. Otorhinolaryngologists should be aware of the positive and negative aspects of religion and be prepared to address these issues in clinical practice. PMID:25967695

  10. Stem cells therapy in cerebral palsy: A systematic review.

    PubMed

    Kułak-Bejda, Agnieszka; Kułak, Piotr; Bejda, Grzegorz; Krajewska-Kułak, Elżbieta; Kułak, Wojciech

    2016-09-01

    The aim of this study was to systematically present the best available stem cell therapies for children with cerebral palsy (CP). The databases Medline, PubMed, EMBASE, and the Cochrane Controlled Trials Register for RCTs were searched for studies published from 1967 to August 2015. Systematic reviews, randomised controlled trials (RCTs), controlled trials, uncontrolled trials, cohort studies, open-label studies, and a meta-analysis were analysed. Of 360 articles, seven fulfilled the inclusion criteria: one RCT and six were open-label trials. In these studies, one application of stem cells for children with CP was typical, and the total number of cells administered to patients ranged from 10(6) to 10(8)/kg. Different routes of cell delivery were used, though in most studies motor development was applied as an indicator of primary outcomes. In three articles, neuroimaging studies were also implemented to confirm the efficacy of the therapies. Observation periods varied from 3months to 5years, and patients' tolerance of the therapy was generally good. Stem cell therapy may improve some symptoms in patients with CP, though larger studies are needed to examine the impact of stem cell therapy upon CP. PMID:27004672

  11. Growth and Nutrition Disorders in Children with Cerebral Palsy

    PubMed Central

    Kuperminc, Michelle N.; Stevenson, Richard D.

    2010-01-01

    Growth and nutrition disorders are common secondary health conditions in children with cerebral palsy (CP). Poor growth and malnutrition in CP merit study because of their impact on health, including psychological and physiological function, healthcare utilization, societal participation, motor function, and survival. Understanding the etiology of poor growth has led to a variety of interventions to improve growth. One of the major causes of poor growth, malnutrition, is the best-studied contributor to poor growth; scientific evidence regarding malnutrition has contributed to improvements in clinical management and, in turn, survival over the last 20 years. Increased recognition and understanding of neurological, endocrinological, and environmental factors have begun to shape care for children with CP, as well. The investigation of these factors relies on advances made in the assessment methods available to address the challenges inherent in measuring growth in children with CP. Descriptive growth charts and norms of body composition provide information that may help clinicians to interpret growth and intervene to improve growth and nutrition in children with CP. Linking growth to measures of health will be necessary to develop growth standards for children with CP in order to optimize health and well-being. PMID:18646022

  12. Clinically relevant copy number variations detected in cerebral palsy

    PubMed Central

    Oskoui, Maryam; Gazzellone, Matthew J.; Thiruvahindrapuram, Bhooma; Zarrei, Mehdi; Andersen, John; Wei, John; Wang, Zhuozhi; Wintle, Richard F.; Marshall, Christian R.; Cohn, Ronald D.; Weksberg, Rosanna; Stavropoulos, Dimitri J.; Fehlings, Darcy; Shevell, Michael I.; Scherer, Stephen W.

    2015-01-01

    Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cause of CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors are also implicated, guidelines for diagnostic assessment of CP do not recommend for routine genetic testing. Given numerous reports of aetiologic copy number variations (CNVs) in other neurodevelopmental disorders, we used microarrays to genotype a population-based prospective cohort of children with CP and their parents. Here we identify de novo CNVs in 8/115 (7.0%) CP patients (∼1% rate in controls). In four children, large chromosomal abnormalities deemed likely pathogenic were found, and they were significantly more likely to have severe neuromotor impairments than those CP subjects without such alterations. Overall, the CNV data would have impacted our diagnosis or classification of CP in 11/115 (9.6%) families. PMID:26236009

  13. Eye Hand Coordination in Children with Cerebral Palsy

    PubMed Central

    Saavedra, Sandra; Joshi, Aditi; Woollacott, Marjorie; van Donkelaar, Paul

    2009-01-01

    Reaching to grasp an object of interest requires complex sensorimotor coordination involving eye, head, hand and trunk. While numerous studies have demonstrated deficits in each of these systems individually, little is known about how children with cerebral palsy (CP) coordinate multiple motor systems for functional tasks. Here we used kinematics, remote eye tracking and a trunk support device to examine the functional coupling of the eye, head and hand and the extent to which it was constrained by trunk postural control in 10 children with CP (6–16 years). Eye movements in children with CP were similar to typically developing (TD) peers, while hand movements were significantly slower. Postural support influenced initiation of hand movements in the youngest children (TD & CP) and execution of hand movements in children with CP differentially depending on diagnosis. Across all diagnostic categories, the most robust distinction between TD children and children with CP was in their ability to isolate eye, head and hand movements. Results of this study suggest that deficits in motor coordination for accurate reaching in children with CP may reflect coupled eye, head, and hand movements. We have previously suggested that coupled activation of effectors may be the default output for the CNS during early development. PMID:18830589

  14. Factors Affecting Bone Mineral Density in Adults with Cerebral Palsy

    PubMed Central

    Yoon, Young Kwon; Kim, Ae Ryoung; Kim, On Yoo; Lee, Kilchan; Suh, Young Joo

    2012-01-01

    Objective To clarify factors affecting bone mineral density (BMD) in adults with cerebral palsy (CP). Method Thirty-five patients with CP participated in this study. Demographic data including gender, age, body mass index (BMI), subtype according to neuromotor type and topographical distribution, ambulatory function, and functional independence measure (FIM) were investigated. The BMD of the lumbar spine and femur were measured using Dual-energy X-ray absorptiometry, and the factors affecting BMD were analyzed. Results The BMD had no significant association with factors such as gender, age, and subtype in adults with CP. However, BMI was significantly correlated with the BMD of lumbar spine and femur (p<0.05). The FIM score was also positively correlated with the BMD of femur (p<0.05). Moreover, CP patients with higher ambulatory function had significantly higher BMD of femur (p<0.05). Conclusion These findings suggest that BMI and functional levels such as FIM and ambulatory function can affect BMD in adults with CP. The results might be used as basic data, suggesting the importance of treatment including weight bearing exercise and gait training in adults with CP. PMID:23342308

  15. Basal ganglia cholinergic and dopaminergic function in progressive supranuclear palsy.

    PubMed

    Warren, Naomi M; Piggott, Margaret A; Greally, Elizabeth; Lake, Michelle; Lees, Andrew J; Burn, David J

    2007-08-15

    Progressive Supranuclear Palsy (PSP) is a progressive neurodegenerative disorder. In contrast to Parkinson's disease (PD) and dementia with Lewy bodies (DLB), replacement therapy with dopaminergic and cholinergic agents in PSP has been disappointing. The neurochemical basis for this is unclear. Our objective was to measure dopaminergic and cholinergic receptors in the basal ganglia of PSP and control brains. We measured, autoradiographically, dopaminergic (dopamine transporter, 125I PE2I and dopamine D2 receptors, 125I epidepride) and cholinergic (nicotinic alpha4beta2 receptors, 125I 5IA85380 and muscarinic M1 receptors, 3H pirenzepine) parameters in the striatum and pallidum of pathologically confirmed PSP cases (n=15) and controls (n=32). In PSP, there was a marked loss of dopamine transporter and nicotinic alpha4beta2 binding in the striatum and pallidum, consistent with loss of nigrostriatal neurones. Striatal D2 receptors were increased in the caudate and muscarinic M1 receptors were unchanged compared with controls. These results do not account for the poor response to dopaminergic and cholinergic replacement therapies in PSP, and suggest relative preservation of postsynaptic striatal projection neurones bearing D2/M1 receptors. PMID:17534953

  16. Characteristics of Nonmotor Symptoms in Progressive Supranuclear Palsy.

    PubMed

    Ou, Ruwei; Song, Wei; Wei, Qianqian; Chen, Ke; Cao, Bei; Hou, Yanbing; Zhao, Bi; Shang, Huifang

    2016-01-01

    Objectives. To explore the clinical correlates of nonmotor symptoms (NMS) in progressive supranuclear palsy (PSP) and their differences from healthy controls and patients with Parkinson's disease (PD). Methods. Twenty-seven PSP patients, 27 age- and gender-matched healthy controls (HC), and 27 age- and gender-matched PD patients were included for this case-control study. NMS were assessed using the Nonmotor Symptoms Scale (NMSS, including 9 domains). Results. All PSP patients reported NMS. The frequency and severity of "sleep/fatigue," "mood/apathy," "attention/memory," "gastrointestinal," "sexual dysfunction," and "miscellaneous" domains in PSP group were significantly higher than those in HC group (P < 0.05). The frequency of "mood/apathy," "attention/memory," and "sexual dysfunction" domains and the severity of "attention/memory" and "gastrointestinal" domains in PSP group were significantly higher than those in PD group (P < 0.05). The "attention/memory" domain in PSP had a significant but weak-to-moderate correlation with age (R = 0.387, P = 0.046) and onset age (R = 0.406, P = 0.036). Conclusions. NMS are common in PSP patients. Patients with PSP seem to be subjected to more frequent and severe specific NMS compared to healthy aging subjects and PD patients. Older PSP patients and late-onset patients are likely to be subjected to cognitive decline. PMID:27366342

  17. Thermograpic study of upper extremities in patients with cerebral palsy

    NASA Astrophysics Data System (ADS)

    Lampe, R.; Kawelke, S.; Mitternacht, J.; Turova, V.; Blumenstein, T.; Alves-Pinto, A.

    2015-03-01

    Trophic disorders like reduced skin blood circulation are well-known epiphenomenon of cerebral palsy (CP). They can influence quality of life and can lead to skin damages and, as a consequence, to decubitus. Therefore, it is important to analyse temperature regulation in patients with CP. Thermal imaging camera FLIR BCAM SD was used to study the dependency of skin blood circulation in upper extremities of patients with CP on hand dominance, hand force and hand volume. The hand force was evaluated using a conventional dynamometer. The hand volume was measured with a volumeter. A cold stress test for hands was applied in 22 patients with CP and 6 healthy subjects. The warming up process after the test was recorded with the thermal camera. It was confirmed that the hands of patients warm up slower comparing to healthy persons. The patients' working hands warm up faster than non-working ones. A slight correlation was established between the hand grip force of the working hands and their warm up time. No correlation was found between the warming up time and the volume of the hand. The results confirm our assumption that there is a connection of peripheral blood circulation to upper limb motor functions.

  18. A novel muscle for electroneurography in peripheral facial palsy: occipitalis.

    PubMed

    Uzun, Nurten; Adatepe, Turgut; Azizli, Elad; Alkan, Zeynep; Yiğit, Özgür; Gündüz, Ayşegül; Karaali-Savrun, Feray

    2016-03-01

    Electroneurography (ENoG) is one of the most objective tests in grading the damage and prediction of prognosis in peripheral facial palsy (PFP). We aimed to determine temporal changes of ENoG recorded over occipitalis muscle in acute idiopathic PFP. Consecutive 21 patients with unilateral acute idiopathic PFP and age- and sex-matched 15 healthy volunteers were included in the study. Nasal and occipital ENoG values were recorded once in the control group and the same procedure was repeated daily between the second and eight days of the disorder in the PFP group. Occipital ENoG value began to increase on the third day while nasal ENoG value was still within the normal range (27.04 vs 7.69 %, p = 0.0001). In the fourth, fifth and sixth days, occipital ENoG value was significantly high compared to nasal ENoG value (p = 0.0001 for each day) whereas nasal and occipital ENoG values were very similar in the seventh and eighth days (p = 0.181 and p = 0.584, respectively). Our study presents further support for technical possibility of occipital ENoG which may reflect the degree of fiber degeneration earlier than the nasalis muscle in PFP. PMID:25721198

  19. JUMP LANDING CHARACTERISTICS IN ELITE SOCCER PLAYERS WITH CEREBRAL PALSY

    PubMed Central

    Grande, I.; Mejuto, G.; Los Arcos, A.; Yanci, J.

    2013-01-01

    The aim of the present study was to analyse the parameters that characterize the vertical ground reaction force during the landing phase of a jump, and to determine the relationship among these parameters in elite soccer players with cerebral palsy (CP). Thirteen male members of the Spanish national soccer team for people with CP (mean age: 27.1 ± 4.7 years) volunteered for the study. Each participant performed three counter movement jumps. The characteristics of the first peak of the vertical ground reaction force during the landing phase of a jump, which corresponds to the forefoot contact with the ground, were similar to the results obtained in previous studies. However, a higher magnitude of rearfoot contact with the ground (F2) was observed in participants with CP than in participants without CP. Furthermore, a significant correlation between F2 magnitude and the elapsed time until its production (T2) was not observed (r = -0.474 for p = 0.102). This result implies that a landing technique based on a delay in the production of F2 might not be effective to reduce its magnitude, contrary to what has been observed in participants without CP. The absence of a significant correlation between these two parameters in the present study, and the high magnitude of F2, suggest that elite soccer players with CP should use footwear with proper cushioning characteristics. PMID:24744473

  20. Towards an intelligent wheelchair system for users with cerebral palsy.

    PubMed

    Montesano, Luis; Díaz, Marta; Bhaskar, Sonu; Minguez, Javier

    2010-04-01

    This paper describes and evaluates an intelligent wheelchair, adapted for users with cognitive disabilities and mobility impairment. The study focuses on patients with cerebral palsy, one of the most common disorders affecting muscle control and coordination, thereby impairing movement. The wheelchair concept is an assistive device that allows the user to select arbitrary local destinations through a tactile screen interface. The device incorporates an automatic navigation system that drives the vehicle, avoiding obstacles even in unknown and dynamic scenarios. It provides the user with a high degree of autonomy, independent from a particular environment, i.e., not restricted to predefined conditions. To evaluate the rehabilitation device, a study was carried out with four subjects with cognitive impairments, between 11 and 16 years of age. They were first trained so as to get acquainted with the tactile interface and then were recruited to drive the wheelchair. Based on the experience with the subjects, an extensive evaluation of the intelligent wheelchair was provided from two perspectives: 1) based on the technical performance of the entire system and its components and 2) based on the behavior of the user (execution analysis, activity analysis, and competence analysis). The results indicated that the intelligent wheelchair effectively provided mobility and autonomy to the target population. PMID:20071276

  1. RESULTS OF ADDUCTORS MUSCLE TENOTOMY IN SPASTIC CEREBRAL PALSY

    PubMed Central

    Guglielmetti, Luiz Gabriel Betoni; Santos, Ruy Mesquita Maranhao; Mendonça, Rodrigo Góes Medea de; Yamada, Helder Henzo; Assumpçao, Rodrigo Montezuma César de; Fucs, Patricia Maria de Moraes Barros

    2015-01-01

    Objective: Radiographic evaluation of the evolution of hips that underwent soft-tissue release. Methods: This was a retrospective evaluation on 101 spastic cerebral palsy patients who underwent soft-tissue release between 1991 and 2006. Forty-four patients met the inclusion criteria: 23 boys and 21 girls; 34 diparetic and 10 quadriparetic. Functionally, 29 were non-walkers, five were able to walk at home and 10 were able to walk within the community. Reimers' index (RI) and the acetabular index (AI) were measured on pre and postoperative radiographs, with a minimum follow-up of three years. The mean age at the time of surgery was 6.4 years. Results: The results were considered good if the RI had reduced, or had increased by less than 10%. This was found in 52% of this study. We observed a clear improvement in IR, along with worse results in patients with more than five years of postoperative follow-up. Conclusion: Soft-tissue release should be performed as early as possible, regardless of age, walking condition, clinical type, RI, AI or sex, and as soon as the patient clinically presents less than 30° abduction, because of the benefits relating to walking, prevention and treatment of subluxation, hygiene and pain relief. PMID:27022574

  2. Orthotic management of cerebral palsy: recommendations from a consensus conference.

    PubMed

    Morris, Christopher; Bowers, Roy; Ross, Karyn; Stevens, Phil; Phillips, David

    2011-01-01

    An international multidisciplinary group of healthcare professionals and researchers participated in a consensus conference on the management of cerebral palsy, convened by the International Society for Prosthetics and Orthotics. Participants reviewed the evidence and considered contemporary thinking on a range of treatment options including physical and occupational therapy, and medical, surgical and orthotic interventions. The quality of many of the reviewed papers was compromised by inadequate reporting and lack of transparency, in particular regarding the types of patients and the design of the interventions being evaluated. Substantial evidence suggests that ankle-foot orthoses (AFOs) that control the foot and ankle in stance and swing phases can improve gait efficiency in ambulant children (GMFCS levels I-III). By contrast, little high quality evidence exists to support the use of orthoses for the hip, spine or upper limb. Where the evidence for orthosis use was not compelling consensus was reached on recommendations for orthotic intervention. Subsequent group discussions identified recommendations for future research. The evidence to support using orthoses is generally limited by the brevity of follow-up periods in research studies; hence the extent to which orthoses may prevent deformities developing over time remains unclear. The full report of the conference can be accessed free of charge at www.ispoint.org. PMID:21335676

  3. Environment-driven responses in progressive supranuclear palsy.

    PubMed

    Ghika, J; Tennis, M; Growdon, J; Hoffman, E; Johnson, K

    1995-05-01

    The neurological signs and behaviors that accompany degenerative diseases associated with fronto-striatal dysfunction are incompletely described. We observed several novel environmentally-driven behaviors in seven patients with progressive supranuclear palsy (PSP). All patients had cognitive deficits with greatest impairments on tests of frontal lobe function, and frontal lobe cerebral perfusion was significantly reduced in 4 of the 5 who had single photon emission computed tomography (SPECT) brain scans. Visual grasping, in which a patient's gaze was attracted to an incidental object in the environment such as a TV set or mirror, was preeminent. Once fixed, there was inability to release the gaze and shift to another object. In other instances, removing a table placed in front of a patient or unbuckling of his seat belt would make him stand up, which was impossible on command. Similarly, playing music would induce rhythmic foot beating, which was never obtained on command. There were compulsive utilization behaviors, such as repetitively picking up and replacing the telephone for no apparent reason. As expected, there were signs of heightened facial reflexes, grasp reflexes, apraxia of eyelid opening, echolalia and echopraxia. We postulate that these stimuli-oriented behaviors stem from parietal lobe disinhibition due to fronto-striatal dysfunction. PMID:7650525

  4. Clinical correlations of microstructural changes in progressive supranuclear palsy.

    PubMed

    Tessitore, Alessandro; Giordano, Alfonso; Caiazzo, Giuseppina; Corbo, Daniele; De Micco, Rosa; Russo, Antonio; Liguori, Sara; Cirillo, Mario; Esposito, Fabrizio; Tedeschi, Gioacchino

    2014-10-01

    In patients with progressive supranuclear palsy (PSP), previous reports have shown a severe white matter (WM) damage involving supra and infratentorial regions including cerebellum. In the present study, we investigated potential correlations between WM integrity loss and clinical-cognitive features of patients with PSP. By using magnetic resonance imaging and diffusion tensor imaging with tract based spatial statistic analysis, we analyzed WM volume in 18 patients with PSP and 18 healthy controls (HCs). All patients and HCs underwent a detailed clinical and neuropsychological evaluation. Relative to HCs, patients with PSP showed WM changes encompassing supra and infratentorial areas such as corpus callosum, fornix, midbrain, inferior fronto-occipital fasciculus, anterior thalamic radiation, superior cerebellar peduncle, superior longitudinal fasciculus, uncinate fasciculus, cingulate gyrus, and cortico-spinal tract bilaterally. Among different correlations between motor-cognitive features and WM structural abnormalities, we detected a significant association between fronto-cerebellar WM loss and executive cognitive impairment in patients with PSP. Our findings, therefore, corroborate the hypothesis that cognitive impairment in PSP may result from both "intrinsic" and "extrinsic" frontal lobe dysfunction, likely related to cerebellar disconnection. PMID:24786632

  5. Functional and fixed orthodontic treatment in a child with cerebral palsy.

    PubMed

    İşcan, Hakan Necip; Metin-Gürsoy, Gamze; Kale-Varlik, Selin

    2014-04-01

    Cerebral palsy is a permanent neuromuscular motor disorder that results from injury in the developing brain during the prenatal or postnatal period. Common functional and craniofacial problems related to cerebral palsy include impaired swallowing, chewing, and speech; maxillary transverse deficiency; excessive anterior facial height; and Class II malocclusion. This article reports the treatment of a 12-year-old girl with ataxic cerebral palsy; she had a dental and skeletal Class II malocclusion, maxillary transverse deficiency, and severe crowding in both arches. Treatment included rapid maxillary expansion with simultaneous functional therapy and fixed orthodontic extraction therapy in a period of 2 years 3 months. Vertical control was maintained by a vertical chincap. An acceptable occlusion and improvements in facial esthetics, speech, and oral function were achieved. PMID:24703291

  6. Athetoid cerebral palsy with cysts in the putamen after hypoxic-ischaemic encephalopathy.

    PubMed Central

    Rutherford, M A; Pennock, J M; Murdoch-Eaton, D M; Cowan, F M; Dubowitz, L M

    1992-01-01

    Three cases of athetoid cerebral palsy after hypoxic-ischaemic encephalopathy (HIE) are reported. All three neonates had haemorrhagic lesions in the basal ganglia and thalami on magnetic resonance imaging (MRI). Prior cranial ultrasound had detected the lesions in only two cases. In all three children athetoid movements began within the first year of life. Follow up MRI scans showed bilateral symmetrical cystic lesions in the posterior putamen. Although haemorrhagic lesions within the basal ganglia are a common MRI finding in neonates with HIE, few of these babies develop athetoid cerebral palsy. We believe this to be the first report of discrete cystic lesions found in the basal ganglia of children with athetoid cerebral palsy. Images Figure 1 Figure 2 Figure 3 PMID:1519987

  7. Central pontine myelinolysis presenting as isolated sixth nerve palsy in third trimester of pregnancy

    PubMed Central

    Gosavi, Tushar Divakar; See, Siew Ju

    2015-01-01

    A 30-year-old primigravida presented with isolated left sixth nerve palsy at 38 weeks gestation. Her MRI showed a lesion consistent with central pontine myelinolysis (CPM). Extensive investigations did not reveal any secondary cause for the CPM. She recovered spontaneously in 2 weeks with complete resolution of her MRI changes. To our knowledge, this is the first report of CPM occurring in third trimester in the absence of identifiable secondary causes and of CPM presenting as an isolated sixth nerve palsy. We discuss the reported causes of CPM in pregnancy, possible pathophysiologic mechanisms involved and the anatomic basis of the unique clinical presentation of sixth nerve palsy in our case. PMID:25745319

  8. Partial oculomotor nerve palsy in a 7-year-old child.

    PubMed

    Israni, Anil; Chakrabarty, Biswaroop; Kumar, Atin; Gulati, Sheffali

    2016-01-01

    Oculomotor nerve palsy can be due to varied causes that include diabetic neuropathy, myasthenia gravis, brainstem infarction, demyelinating conditions, and cerebral aneurysms. Among the aneurysmal causes of oculomotor nerve palsy, aneurysm of the posterior communicating artery has been observed to be the most common. Pupillary dysfunction is considered to be an important feature of aneurysmal oculomotor nerve paresis. A case of a 7-year-old boy with partial oculomotor nerve palsy with pupillary sparing is being reported here, the etiology of which is tortuous and ectatic distal internal carotid artery. This is a rare cause of oculomotor nerve paresis and to the best of our knowledge has not yet been reported in children. Ischemia rather than compression seems to be the most plausible cause in this case. PMID:27606031

  9. Facial Palsy, a Disorder Belonging to Influential Neurological Dynasty: Review of Literature.

    PubMed

    Newadkar, Ujwala R; Chaudhari, Lalit; Khalekar, Yogita K

    2016-07-01

    Facial paralysis is one of the common problem leading to facial deformation. Bell's palsy (BP) is defined as a lower motor neuron palsy of acute onset and idiopathic origin. BP is regarded as a benign common neurological disorder of unknown cause. It has an acute onset and is almost always a mononeuritis. The facial nerve is a mixed cranial nerve with a predominant motor component, which supplies all muscles concerned with unilateral facial expression. Knowledge of its course is vital for anatomic localization and clinical correlation. BP accounts for approximately 72% of facial palsies. Almost a century later, the management and etiology of BP is still a subject of controversy. Here, we present a review of literature on this neurologically significant entity. PMID:27583233

  10. Central pontine myelinolysis presenting as isolated sixth nerve palsy in third trimester of pregnancy.

    PubMed

    Gosavi, Tushar Divakar; See, Siew Ju

    2015-01-01

    A 30-year-old primigravida presented with isolated left sixth nerve palsy at 38 weeks gestation. Her MRI showed a lesion consistent with central pontine myelinolysis (CPM). Extensive investigations did not reveal any secondary cause for the CPM. She recovered spontaneously in 2 weeks with complete resolution of her MRI changes. To our knowledge, this is the first report of CPM occurring in third trimester in the absence of identifiable secondary causes and of CPM presenting as an isolated sixth nerve palsy. We discuss the reported causes of CPM in pregnancy, possible pathophysiologic mechanisms involved and the anatomic basis of the unique clinical presentation of sixth nerve palsy in our case. PMID:25745319

  11. Eyelid reanimation, neurotisation, and transplantation of the cornea in a patient with facial palsy

    PubMed Central

    Allevi, Fabiana; Fogagnolo, Paolo; Rossetti, Luca; Biglioli, Federico

    2014-01-01

    Patients affected by facial palsy suffer from failure to fully close the eyelids; the resulting eye exposure can lead to dry eye syndrome, loss of epithelial integrity, corneal ulceration and infections. Corneal anaesthesia exacerbates risk of corneal damage in these patients. Eyelid paralysis-associated corneal lesions may induce severe visual impairment, for which the ideal treatment is corneal transplantation, a procedure contraindicated in patients with corneal sensitivity and inadequate eyelid closure. We present the case of a patient affected by unilateral facial palsy associated with corneal anaesthesia, due to seventh and fifth cranial nerve damage following homolateral eighth cranial nerve surgery. The patient underwent surgery to re-establish eyelid and corneal competence, and then received a corneal graft with consequent amelioration of visual acuity. This is the first case of associated corneal anaesthesia and facial palsy that was comprehensively treated with a set of surgical procedures, including a corneal transplant. PMID:25139921

  12. Parental stress in mothers of children and adolescents with cerebral palsy

    PubMed Central

    Ribeiro, Maysa Ferreira Martins; Sousa, Ana Luiza Lima; Vandenberghe, Luc; Porto, Celmo Celeno

    2014-01-01

    Objectives to evaluate parental stress of mothers of children and adolescents with cerebral palsy; to verify whether parental stress undergoes variations according to the level of motor compromise, the child's phase of life, and sociodemographic variables. Method a cross-sectional, descriptive study, with 223 mothers of children and adolescents with cerebral palsy. Results 45.3% of the mothers presented high levels of stress; there were differences in stress between mothers of children with mild and severe motor impairment; mothers of older children were more stressed than mothers of younger children and of adolescents; paid work and leisure activities reduced the stress. Conclusion mothers of children and adolescents with cerebral palsy, whose children present mild to severe motor impairment are vulnerable to parental stress. Paid work and leisure activities were the factors that contributed most to reducing the stress. PMID:25029055

  13. Facial Palsy, a Disorder Belonging to Influential Neurological Dynasty: Review of Literature

    PubMed Central

    Newadkar, Ujwala R.; Chaudhari, Lalit; Khalekar, Yogita K.

    2016-01-01

    Facial paralysis is one of the common problem leading to facial deformation. Bell's palsy (BP) is defined as a lower motor neuron palsy of acute onset and idiopathic origin. BP is regarded as a benign common neurological disorder of unknown cause. It has an acute onset and is almost always a mononeuritis. The facial nerve is a mixed cranial nerve with a predominant motor component, which supplies all muscles concerned with unilateral facial expression. Knowledge of its course is vital for anatomic localization and clinical correlation. BP accounts for approximately 72% of facial palsies. Almost a century later, the management and etiology of BP is still a subject of controversy. Here, we present a review of literature on this neurologically significant entity. PMID:27583233

  14. Partial oculomotor nerve palsy in a 7-year-old child

    PubMed Central

    Israni, Anil; Chakrabarty, Biswaroop; Kumar, Atin; Gulati, Sheffali

    2016-01-01

    Oculomotor nerve palsy can be due to varied causes that include diabetic neuropathy, myasthenia gravis, brainstem infarction, demyelinating conditions, and cerebral aneurysms. Among the aneurysmal causes of oculomotor nerve palsy, aneurysm of the posterior communicating artery has been observed to be the most common. Pupillary dysfunction is considered to be an important feature of aneurysmal oculomotor nerve paresis. A case of a 7-year-old boy with partial oculomotor nerve palsy with pupillary sparing is being reported here, the etiology of which is tortuous and ectatic distal internal carotid artery. This is a rare cause of oculomotor nerve paresis and to the best of our knowledge has not yet been reported in children. Ischemia rather than compression seems to be the most plausible cause in this case. PMID:27606031

  15. Peripheral facial palsy, the only presentation of a primitive neuroectodermal tumor of the skull base

    PubMed Central

    Kim, Hyung Jin; Kang, Ben; Joo, Eun Young; Kim, Eun Young; Kwon, Young Se

    2015-01-01

    Introduction Peripheral facial palsy is rarely caused by primary neoplasms, which are mostly constituted of tumors of the central nervous system, head and neck, and leukemia. Presentation of case A 2-month-old male infant presented with asymmetric facial expression for 3 weeks. Physical examination revealed suspicious findings of right peripheral facial palsy. Computed tomography of the temporal bone revealed a suspicious bone tumor centered in the right petrous bone involving surrounding bones with extension into the middle ear cavity and inner ear. Subtotal resection of the tumor was performed due to crucial structures adjacent the mass. Histopathology and immunohistochemistry of the resected tumor was consistent with primitive neuroectodermal tumor. Conclusion We report a rare case of a primitive neuroectodermal tumor located at the skull base presenting with only peripheral facial palsy. PMID:26710328

  16. Isolated Cranial Nerve-III Palsy Secondary to Perimesencephalic Subarachnoid Hemorrhage

    PubMed Central

    Abbatemarco, Justin R.

    2016-01-01

    We describe isolated cranial nerve-III palsy as a rare clinical finding in a patient with perimesencephalic subarachnoid hemorrhage. In this unusual case, the patient presented with complete cranial nerve-III palsy including ptosis and pupillary involvement. Initial studies revealed subarachnoid hemorrhage in the perimesencephalic, prepontine, and interpeduncular cisterns. Angiographic studies were negative for an intracranial aneurysm. The patient's neurological deficits improved with no residual deficits on follow-up several months after initial presentation. Our case report supports the notion that patients with perimesencephalic subarachnoid hemorrhage have an excellent prognosis. Our report further adds a case of isolated cranial nerve-III palsy as a rare initial presentation of this type of bleeding, adding to the limited body of the literature. PMID:26949557

  17. Incidence and Risk Factors of C5 Palsy following Posterior Cervical Decompression: A Systematic Review

    PubMed Central

    Tian, Ye; Liang, Lei; Wang, Ce; Yang, Lili; Yuan, Wen

    2014-01-01

    Background C5 palsy is a serious but poorly understood complication after posterior cervical decompression that could lead to muscle weakness, brachialgia and numbness of the upper limbs. The incidence of C5 palsy varies greatly between studies. The risk factors are inconclusive and even conflicting. Object To perform a systematic review on the incidence and risk factors of C5 palsy after posterior cervical decompression. Materials and Methods Four databases, PubMed, Embase, Web of Science and Cochrane CENTRAL, were searched to identify eligible studies. Either a fixed- or a random-effects model was used to calculate the pooled odd ratio (RR) or standardized mean difference (SMD) with its 95% confidence interval (95%CI). Results Of the 589 pre-recruited studies, 25 were included in this study for systematic review. The pooled incidence of C5 palsy after posterior decompression was 5.8% (95%CI: 4.4–7.2%). The incidence after open-door laminoplasty, double-door laminoplasty and laminectomy was 4.5%, 3.1% and 11.3%, respectively. The significant risk factors of C5 palsy were OPLL (OR, 2.188; 95%CI, 1.307–3.665), narrower intervertebral foramen (SMD, −0.972; 95%CI, −1.398 to −0.545), laminectomy (vs. open-door laminoplasty, OR, 2.988; 95%CI, 1.298–6.876), excessive spinal cord drift (SMD, 1.289, 95%CI, 0,197–2.381) and male gender (OR, 1.54; 95%CI, 1.036–2.301). Conclusions The results of this systematic review suggest that patients with excessive spinal cord drift, preexisting intervertebral foramenal stenosis, OPLL, laminectomy and male gender are at high risk for postoperative C5 palsy, and risk-reduction options should be considered for such patients. PMID:25162509

  18. Preliminary study of novel, timed walking tests for children with spina bifida or cerebral palsy

    PubMed Central

    Kane, Kyra J; Lanovaz, Joel; Bisaro, Derek; Oates, Alison; Musselman, Kristin E

    2016-01-01

    Objective: Walking assessment is an important aspect of rehabilitation practice; yet, clinicians have few psychometrically sound options for evaluating walking in highly ambulatory children. The purpose of this study was to evaluate the validity and reliability of two new measures of walking function—the Obstacles and Curb tests—relative to the 10-Meter Walk test and Timed Up and Go test in children with spina bifida or cerebral palsy. Methods: A total of 16 ambulatory children with spina bifida (n=9) or cerebral palsy (n=7) (9 boys; mean age 7years, 7months; standard deviation 3years, 4months) and 16 age- and gender-matched typically developing children participated. Children completed the walking tests, at both self-selected and fast speeds, twice. To evaluate discriminative validity, scores were compared between typically developing and spina bifida/cerebral palsy groups. Within the spina bifida/cerebral palsy group, inter-test correlations evaluated convergent validity and intraclass correlation coefficients evaluated within-session test–retest reliability. Results: At fast speeds, all tests showed discriminative validity (p<0.006 for typically developing and spina bifida/cerebral palsy comparisons) and convergent validity (rho=0.81–0.90, p⩽0.001, for inter-test correlations). At self-selected speeds, only the Obstacles test discriminated between groups (p=0.001). Moderately strong correlations (rho=0.73–0.78, p⩽0.001) were seen between the 10-Meter Walk test, Curb test, and Timed Up and Go test. Intraclass correlation coefficients ranged from 0.81 to 0.97, with higher test–retest reliability for tests performed at fast speeds rather than self-selected speeds. Conclusion: The Obstacles and Curb tests are promising measures for assessing walking in this population. Performing tests at fast walking speeds may improve their validity and test–retest reliability for children with spina bifida/cerebral palsy. PMID:27493754

  19. Social cognitive deficits and their neural correlates in progressive supranuclear palsy

    PubMed Central

    Calder, Andrew J.; Peers, Polly V.; Lawrence, Andrew D.; Acosta-Cabronero, Julio; Pereira, João M.; Hodges, John R.; Rowe, James B.

    2012-01-01

    Although progressive supranuclear palsy is defined by its akinetic rigidity, vertical supranuclear gaze palsy and falls, cognitive impairments are an important determinant of patients’ and carers’ quality of life. Here, we investigate whether there is a broad deficit of modality-independent social cognition in progressive supranuclear palsy and explore the neural correlates for these. We recruited 23 patients with progressive supranuclear palsy (using clinical diagnostic criteria, nine with subsequent pathological confirmation) and 22 age- and education-matched controls. Participants performed an auditory (voice) emotion recognition test, and a visual and auditory theory of mind test. Twenty-two patients and 20 controls underwent structural magnetic resonance imaging to analyse neural correlates of social cognition deficits using voxel-based morphometry. Patients were impaired on the voice emotion recognition and theory of mind tests but not auditory and visual control conditions. Grey matter atrophy in patients correlated with both voice emotion recognition and theory of mind deficits in the right inferior frontal gyrus, a region associated with prosodic auditory emotion recognition. Theory of mind deficits also correlated with atrophy of the anterior rostral medial frontal cortex, a region associated with theory of mind in health. We conclude that patients with progressive supranuclear palsy have a multimodal deficit in social cognition. This deficit is due, in part, to progressive atrophy in a network of frontal cortical regions linked to the integration of socially relevant stimuli and interpretation of their social meaning. This impairment of social cognition is important to consider for those managing and caring for patients with progressive supranuclear palsy. PMID:22637582

  20. Neonatal risk factors for cerebral palsy in very preterm babies: case-control study.

    PubMed Central

    Murphy, D. J.; Hope, P. L.; Johnson, A.

    1997-01-01

    OBJECTIVE: To identify neonatal risk factors for cerebral palsy among very preterm babies and in particular the associations independent of the coexistence of antenatal and intrapartum factors. DESIGN: Case-control study. SETTING: Oxford health region. SUBJECTS: Singleton babies born between 1984 and 1990 at less than 32 weeks' gestation who survived to discharge from hospital: 59 with cerebral palsy and 234 randomly selected controls without cerebral palsy. MAIN OUTCOME MEASURES: Adverse neonatal factors expressed as odds ratios and 95% confidence intervals. RESULTS: Factors associated with an increased risk of cerebral palsy after adjustment for gestational age and the presence of previously identified antenatal and intrapartum risk factors were patent ductus arteriosus (odds ratio 2.3; 95% confidence interval 1.2 to 4.5), hypotension (2.3; 1.3 to 4.7), blood transfusion (4.8; 2.5 to 9.3), prolonged ventilation (4.8; 2.5 to 9.0), pneumothorax (3.5; 1.6 to 7.6), sepsis (3.6; 1.8 to 7.4), hyponatraemia (7.9; 2.1 to 29.6) and total parenteral nutrition (5.5; 2.8 to 10.5). Seizures were associated with an increased risk of cerebral palsy (10.0; 4.1 to 24.7), as were parenchymal damage (32; 12.4 to 84.4) and appreciable ventricular dilatation (5.4; 3.0 to 9.8) detected by cerebral ultrasound. CONCLUSION: A reduction in the rate of cerebral palsy in very preterm babies requires an integrated approach to management throughout the antenatal, intrapartum, and neonatal periods. PMID:9040385