Results 111 to 120 of about 334,765 (343)
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 +2 more
wiley +1 more source
Gender diversity and autism spectrum disorder in child and youth population
European PsychiatryIntroduction Interest in the co-occurrence of gender dysphoria and autism spectrum disorder has gained prominence in recent years. Gender dysphoria refers to the distress experienced when there is an incongruence between gender identity and sex assigned
P. R. Rodríguez +4 more
doaj +1 more source
Scientific Reports, 2019 Individuals with autism spectrum disorder struggle with motor difficulties throughout the life span, and these motor difficulties may affect independent living skills and quality of life.
Adel Ardalan +3 more
doaj +1 more source
The Ketogenic Diet: An Answer for Autism? [PDF]
, 2019 Lacking substantial evidence regarding its genetic identity, autism spectrum disorder (ASD) is a remarkably misunderstood condition with limited options for effective treatment.
Perez, Anne
core +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
Autism in 2016: the need for answers
Jornal de Pediatria (Versão em Português), 2017 Objective: Autism spectrum disorders are lifelong and often devastating conditions that severely affect social functioning and self‐sufficiency. The etiopathogenesis is presumably multifactorial, resulting from a very complex interaction between genetic ...
Annio Posar, Paola Visconti
doaj +1 more source
The emotional contagion in children with autism spectrum disorder [PDF]
, 2016 Studies of the last decade have demonstrated that children with Autism Spectrum Disorder (ASD) showed difficulties in language, social and relational areas, but they had also impairment in the mechanisms of embodied simulation, namely the imitative ...
Bianchi Di Castelbianco, F. +5 more
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DEVELOPING AN INFORMATION PACK FOR THE ASIAN CARERS OF PEOPLE WITH AUTISM SPECTRUM DISORDERS [PDF]
, 2001 Susan Dobson +4 more
openalex +1 more source
Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses +21 more
wiley +1 more source
Iranian Journal of Psychiatry, 2018 Objective: This study aimed to identify autistic like traits in relatives of patients with schizophrenia and autism spectrum disorder. Method: causal-comparative research design was utilized.
Zeynab Khanjani +3 more
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