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10.1111/dmcn.13394

http://scihub22266oqcxt.onion/10.1111/dmcn.13394
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28160302!ä!28160302

suck abstract from ncbi


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pmid28160302      Dev+Med+Child+Neurol 2017 ; 59 (5): 544-549
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  • Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway #MMPMID28160302
  • Garg S; Brooks A; Burns A; Burkitt-Wright E; Kerr B; Huson S; Emsley R; Green J
  • Dev Med Child Neurol 2017[May]; 59 (5): 544-549 PMID28160302show ga
  • AIM: To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD). METHOD: Fifty children were recruited over 10 months through the regional genetics service and advertisements. A range of parent, child, and observational measures were administered including Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Scale. RESULTS: Using the Collaborative Programme for Excellence in Autism criteria, 12 out of 40 children with Noonan syndrome (30%) showed ASD, and 12 out of 40 (30%) with partial ASD features and 16 out of 40 (40%) showed non-ASD. The Noonan syndrome ASD group showed male dominance in a ratio of 5:1. In the CFC group, eight out of nine children met the criteria for ASD, with equal sex distribution. Additionally 19 out of 40 (48%) of the Noonan syndrome group and eight out of nine (88.9%) of the CFC group scored met clinical criteria for ADHD. Only one child was in the Costello syndrome group. INTERPRETATION: This is the first systematic study to suggest a high prevalence of ASD in Noonan and CFC syndromes, and thus offers crucial evidence to support the importance of the Ras/MAPK pathway in the aetiology of ASD. Limitations include the inevitable possibility of a sampling bias in a rare disorder study of this kind.
  • |Adolescent[MESH]
  • |Attention Deficit Disorder with Hyperactivity/*epidemiology[MESH]
  • |Autism Spectrum Disorder/complications/*epidemiology[MESH]
  • |Child[MESH]
  • |Comorbidity[MESH]
  • |Ectodermal Dysplasia/complications/genetics[MESH]
  • |Executive Function/physiology[MESH]
  • |Facies[MESH]
  • |Failure to Thrive/complications/genetics[MESH]
  • |Female[MESH]
  • |Heart Defects, Congenital/complications/genetics[MESH]
  • |Humans[MESH]
  • |Intelligence Tests[MESH]
  • |Male[MESH]
  • |Mitogen-Activated Protein Kinase Kinases/genetics[MESH]
  • |Noonan Syndrome/*epidemiology/genetics[MESH]
  • |Psychiatric Status Rating Scales[MESH]
  • |Retrospective Studies[MESH]
  • |Severity of Illness Index[MESH]
  • |Temporomandibular Joint Dysfunction Syndrome/complications/epidemiology/genetics[MESH]


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