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Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
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Severe neuropsychiatric manifestations in a 17-year-old male with a 20p13 interstitial deletion encompassing CSNK2A1: a case report. [PDF]

J Med Case Rep
Laubach JP, Zeeb D, Weber S, Becker K, Seipelt P.   +4 more
europepmc   +1 more source

Behavioural Research in Intellectual disability Development and Growth Evaluation- Measuring cognitive outcomes in people with neurogenetic syndromes associated with an intellectual disability

Kayla Smith, Rory Thomas Devine, Verinder Poonain, Catherine Laverty, Lauren Shelley, Rory O’Sullivan, Hayley Crawford, Caroline Richards   +7 more
openalex   +2 more sources

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Aging in Rare Intellectual Disability Syndromes

Developmental Disabilities Research Reviews, 2013
This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults will not
Elisabeth M Dykens
exaly   +3 more sources

SCAF4‐related syndromic intellectual disability

American Journal of Medical Genetics Part A, 2022
AbstractThe causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases have been reported. We performed exome sequencing in a 16‐year‐old Brazilian male presenting with ID, epilepsy, behavioral problems, speech impairment, facial ...
Laura Machado Lara Carvalho, Carla Franchi Pinto, Marília de Oliveira Scliar, Paulo A. Otto, Ana Cristina Victorino Krepischi, Carla Rosenberg   +5 more
openaire   +2 more sources

Intellectual Disability Syndromes

2013
Intellectual disability (ID) constitutes a spectrum of chronic human diseases that occur in about 1-3% of the population. This spectrum includes those precipitated by environmental factors as well as genetic disorders, the latter including some that are relatively prevalent, such as Down syndrome and fragile X syndrome, to rather “private” conditions ...
Charles E. Schwartz, Fiorella Gurrieri, Giovanni Neri   +2 more
openaire   +1 more source

IQSEC2 and X-linked syndromal intellectual disability

Psychiatric Genetics, 2016
Despite the recent acceleration in the discovery of genetic risk factors for intellectual disability (ID), the genetic etiology of ID is unknown in approximately half of cases and remains a major frontier of genetics in medicine and psychiatry. The distinction between syndromal and nonsyndromal forms of ID is of great clinical importance, but the ...
Aaron F, Alexander-Bloch, Christopher J, McDougle, Zhanna, Ullman, David A, Sweetser   +3 more
openaire   +2 more sources