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Journal of Autism and Developmental Disorders

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15-12-2022 | Letter to the Editor

Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism

Auteurs: Mohammed Almatrafi, Zehour Al-Sabban, Soher Balkhy, Iman Sabri Abumansour

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2023

Excerpt

X-linked creatine transporter deficiency (CTD) was first described in 2001 (Cecil et al., 2001; Salomons et al., 2001). Its reported prevalence is approximately 2% in males with X-linked intellectual disabilities and ranges from 0.4 to 1.4% in males with intellectual disability/autism overall (Newmeyer et al., 2007; Van de Kamp et al., 2014). A previous genotype phenotype correlation study of CTD revealed that all affected males have an intellectual disability together with delayed speech development of variable severity (Van de Kamp et al., 2013). Other frequent clinical features include neurobehavioral disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), seizures, hypotonia, spasticity, and dystonia. Gastrointestinal symptoms such as neonatal feeding difficulties, failure to thrive, vomiting, and chronic constipation have been reported in some patients (Van de Kamp et al., 2013). Subtle dysmorphic features may be seen such as midface hypoplasia, a dolicofacial skull shape, and prognathism (prominent chin) (Kleefstra et al., 2005). Cardiac, and retinal manifestations have occasionally been described as later-onset features in adulthood (Anselm et al., 2008; Van de Kamp et al., 2013). Carrier females are typically asymptomatic but learning disabilities have been described in some (Yıldız et al., 2020). …

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Titel: Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism
Auteurs: Mohammed Almatrafi
Zehour Al-Sabban
Soher Balkhy
Iman Sabri Abumansour
Publicatiedatum: 15-12-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2023
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05860-0

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