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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented. The goal of this symposium was to provide a platform to discuss cutting-edge knowledge while allowing researchers and trainees the opportunity to share and discuss their front-line research and ideas with others in the field, make connections, and strengthen international collaborations. The Ferdinando Rossi lecture was delivered by Dr. Richard Hawkes on the topic of patterning of the cerebellar cortex. This symposium emphasized the major importance of the involvement of the cerebellum in neurodevelopmental diseases from the clinical, radiological, biological, and genetic standpoint.
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PMID:Cerebellum: from Development to Disease-the 8th International Symposium of the Society for Research on the Cerebellum and Ataxias. 2934 29

Sonic hedgehog (SHH) signaling is essential for the differentiation and migration of early stem cell populations during cerebellar development. Dysregulation of SHH-signaling can result in cerebellar overgrowth and the formation of the brain tumor medulloblastoma. Treatment for medulloblastoma is extremely aggressive and patients suffer life-long side effects including behavioral deficits. Considering that other behavioral disorders including autism spectrum disorders, holoprosencephaly, and basal cell nevus syndrome are known to present with cerebellar abnormalities, it is proposed that some behavioral abnormalities could be inherent to the medulloblastoma sequalae rather than treatment. Using a haploinsufficient SHH receptor knockout mouse model (Ptch1+/-), a partner preference task was used to explore activity, social behavior and neuroanatomical changes resulting from dysregulated SHH signaling. Compared to wild-type, Ptch1+/- females displayed increased activity by traveling a greater distance in both open-field and partner preference tasks. Social behavior was also sex-specifically modified in Ptch1+/- females that interacted more with both novel and familiar animals in the partner preference task compared to same-sex wild-type controls. Haploinsufficiency of PTCH1 resulted in cerebellar overgrowth in lobules IV/V and IX of both sexes, and female-specific decreases in hippocampal size and isocortical layer thickness. Taken together, neuroanatomical changes related to deficient SHH signaling may alter social behavior.
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PMID:Heterozygous mutation of sonic hedgehog receptor (Ptch1) drives cerebellar overgrowth and sex-specifically alters hippocampal and cortical layer structure, activity, and social behavior in female mice. 3211 1