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CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies. [1]
A high-functioning group (around 25 percent) whose symptoms more or less overlap with that of what was Asperger syndrome, while also not meeting the then current criteria for autism spectrum disorder, but who completely differ from those with Asperger syndrome in terms of having a lag in language development and/or mild cognitive impairment ...
Children with ZTTK syndrome may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses. [1] Strabismus ; misalignment or crossing of the eyes when viewing an object, direct hypermetropia; farsightedness, and nystagmus ; eyes making repetitive and uncontrolled movements, are ...
These disorders negatively impact the mental and social wellbeing of a child, and children with these disorders require support from their families and schools. Childhood mental disorders often persist into adulthood. These disorders are usually first diagnosed in infancy, childhood, or adolescence, as laid out in the DSM-5-TR and in the ICD-11 ...
SYNGAP1 encephalopathy is estimated to comprise approximately 0.7–2% of all cases of intellectual disability [19] [20] [21] with over one million people expected to be affected worldwide. [22] [23] The SynGAP Research Fund, a US patient advocacy group, reviewed all the studies that support these estimates. SRF pointed to a more recent study ...
Some autistic children experience regression in their communication and social skills after reaching developmental milestones at a normal pace. [18] [19] It was said to be distinguished by a characteristic triad of symptoms: impairments in social interaction, impairments in communication, and repetitive behavior. [14]
[24] [25] The ADI-R is a semi-structured parent interview that probes for symptoms of autism by evaluating a child's current behavior and developmental history. The ADOS is a semi-structured interactive evaluation of ASD symptoms that is used to measure social and communication abilities by eliciting several opportunities for spontaneous ...
Various websites contain various diagnostic criteria. At least three of the following categories should be present. Co-occurring clusters of symptoms must also not be better explained by being symptoms of another disorder such as experiencing mood swings due to autism, cognitive difficulties due to schizophrenia, and so on.