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Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard +2 more
wiley +1 more source

Nature as a healer for autistic children

Alexandria Engineering Journal, 2019
The reason of many symptoms of autistic children is sensory integration, it is the power to understand, organize and feel sensory data from the environment and body.
Hadeer Abd-El-Razak Barakat, Ali Bakr, Zeyad El-Sayad +2 more
doaj +1 more source

Autistic Spectrum disorder and Anaesthesia

World Journal of Advanced Research and Reviews
One of the groups of patients which may require the greatest flexibility of approach is those with autistic spectrum disorder (ASD). ASD is a lifelong developmental disability, affecting four times as many males than females, which affects how a person communicates with, and relates to, other people and the world around them.
openaire +1 more source

Social camouflaging predicts eating disorder symptomatology among female patients with Borderline Personality Disorder

Frontiers in Psychiatry
BackgroundBorderline Personality Disorder (BPD) frequently co-occurs with both eating disorders (EDs) and elevated autistic traits, particularly among women.
Barbara Carpita +12 more
doaj +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Presence and correlates of autistic traits among patients with social anxiety disorder

Frontiers in Psychiatry
IntroductionDue to their similar behavioral presentation, it can sometimes be challenging to distinguish between a social anxiety disorder (SAD) and the social avoidance that is frequently described in autism spectrum disorder (ASD).
Barbara Carpita +7 more
doaj +1 more source

Maternal Folic Acid and Risk of Childhood Autism

Pediatric Neurology Briefs, 2013
Researchers from the Norwegian Institute of Public Health, Oslo; Institute of Child Health, London, UK; and other centers in Norway, UK, and the US examined the association between maternal use of prenatal folic acid supplements (4 weeks before to 8 ...
J. Gordon Millichap
doaj +1 more source

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