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עמוד בית
Mon, 06.05.24

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May 2023
Aviv Schupper MD, Galia Barash MD, Lilach Benyamini MD, Revital Ben-Haim MD, Eli Heyman MD, Eli Lahat MD, Haim Bassan MD

Global developmental delay (GDD), defined as a significant delay in two or more developmental domains (e.g., gross/fine motor, cognitive, speech/language, personal/social, activities of daily living), affects 1–3% of children. According to the Israeli Ministry of Health, thyroid function studies are not indicated in children with GDD unless there are systemic features suggestive of thyroid dysfunction (https://www.health.gov.il/hozer/mr36_2012.pdf). This approach also exists in other countries with newborn screening programs for congenital hypothyroidism.

We present the case of an infant with GDD, who despite normal newborn screening tests, underwent a repeated extended thyroid function analysis (including T3 levels) leading to a diagnosis of Allan-Herndon-Dudley syndrome, a rare genetic neurodevelopmental syndrome.

September 2018
Orly Kerub RN MA, Eric Haas MD MSCE, Idan Menashe PhD, Nadav Davidovitch MD MPH PhD, Gal Meiri MD MHA
May 2014
Lidia V. Gabis MD and John Pomeroy MD
Background:  Autism spectrum disorders (ASD) represent a common phenotype related to multiple etiologies, such to genetic, brain injury (e.g., prematurity), environmental (e.g., viral, toxic), multiple or unknown causes. 

Objectives: To devise a clinical classification of children diagnosed with ASD according to etiologic workup.

Methods: Children diagnosed with ASD (n=436) from two databases were divided into groups of symptomatic, cryptogenic or idiopathic, and variables within each database and diagnostic category were compared.

Results: By analyzing the two separate databases, 5.4% of the children were classified as symptomatic, 27% as cryptogenic and 67.75% as idiopathic. Among other findings, the entire symptomatic group demonstrated language delays, but almost none showed evidence for regression. Our results indicate similarities between the idiopathic and cryptogenic subgroups in most of the examined variables, and mutual differences from the symptomatic subgroup. The similarities between the first two subgroups support prior evidence that most perinatal factors and minor physical anomalies do not contribute to the development of core symptoms of autism. Conclusions: Differences in gender and clinical and diagnostic features were found when etiology was used to create subtypes of ASD. This classification could have heuristic importance in the search for an autism gene(s).

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