Teachers' voices on sexuality in adolescents with intellectual disabilities: A phenomenological study. [PDF]
Rojas-Trujillo YD +3 more
europepmc +1 more source
Melatonin Levels in 89 Individuals With Smith Magenis Syndrome
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley +1 more source
Ethical challenges of capacity assessment in neurodevelopmental and intellectual disabilities. [PDF]
Santoro JD +4 more
europepmc +1 more source
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Exploring Resilience in Mothers of Adolescents With Intellectual Disabilities in Thailand: A Qualitative Study. [PDF]
Tejakum W, Truesdale M, Cairns D.
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Access to Communication Assessment and Intervention for Adults With Intellectual Disabilities. [PDF]
Chaney C +4 more
europepmc +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Adaptation of behavioural activation for adolescents with mild to moderate intellectual disabilities and depression. [PDF]
Cameron LA +6 more
europepmc +1 more source

