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The exact cause of this disorder is usually unknown. [1] Many observations suggest a genetic cause of DVD, as many with the disorder have a family history of communication disorders. [1] [3] [4] [5] The gene FOXP2 has been implicated in many studies of the condition, and when this is the cause, the condition is inherited in an autosomal ...
The most striking association between 17q12 microdeletions and neurodevelopment is the raised prevalence of autism spectrum disorder, with significant increases in both diagnosis and subclinical autistic traits. [7] [8] 17q12 microdeletions have been implicated as one of the major genetic causes of high-functioning autistic spectrum disorders. [1]
Syndromic autism represents about 25% of the total ASD cases. [4] [5] In most [quantify] cases, its etiology is known. [2] [4] Monogenic disorders are one of the causes of syndromic autism, which in this case are also known as monogenic autism spectrum disorders. They account for about 5% of the total ASD cases.
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14). [2] The signs of this syndrome are oligohydramnios, intrauterine growth restriction, small placenta, low birth weight and length, hypotonia, motor and speech delay, joint laxity, clinodactyly, kyphoscoliosis, precocious puberty, obesity and the facial signs are ...
Autism spectrum disorder (ASD) or simply autism is a neurodevelopmental disorder that begins in early childhood, persists throughout adulthood, and is characterized by difficulties in social communication and restricted, repetitive patterns of behavior. [1]
The disruptions, either from mutations or deletions, are associated with disorders such as Phelan-McDermid syndrome (PMS), schizophrenia, and ASD. SHANK 3 is the most studied gene from the SHANK gene family. Several studies have found that disruptions to SHANK 3 cause more severe cognitive impairments than disruptions to SHANK 1 or 2.
The term developmental language disorder (DLD) was endorsed in a consensus study involving a panel of experts (CATALISE Consortium) in 2017. [3] The study was conducted in response to concerns that a wide range of terminology was used in this area, with the consequence that there was poor communication, lack of public recognition, and in some cases children were denied access to services.
The syndrome associated with PAPVR is more commonly known as Scimitar syndrome after the curvilinear pattern created on a chest radiograph by the pulmonary veins that drain to the inferior vena cava. [2] This radiographic density often has the shape of a scimitar, a type of curved sword. [2] The syndrome was first described by Catherine Neill ...