Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. The diagnostic criteria require that symptoms be apparent before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their synapses connect.
To characterize auts2 function, we knocked it down in zebrafish, leading to a smaller head size, neuronal reduction, and decreased mobility. To characterize AUTS2 regulatory elements, we tested sequences for enhancer activity in zebrafish and mice. We identified 23 functional zebrafish enhancers, 10 of which were active in the brain. Our mouse enhancer assays characterized three mouse brain enhancers that overlap an ASD-associated deletion and four mouse enhancers that reside in regions implicated in human evolution, two of which are active in the brain. Combined, our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits.
Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. Furthermore, rare deleterious mutations were identified in a subset of patients. To investigate the association between ASMT and autism, we sequenced all ASMT exons and its neighboring region in 398 Chinese Han individuals with autism and 437 healthy controls. Although our study did not detect significant differences of genotypic distribution and allele frequencies of the common SNPs in ASMT between patients with autism and healthy controls, we identified new rare coding mutations of ASMT. Among these rare variants, 4 were exclusively detected in patients with autism including a stop mutation
Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption. In addition, AUTS2 contains the most significantly accelerated genomic region differentiating humans from Neanderthals, which is primarily composed of noncoding variants. However, the function and regulation of this gene remain largely unknown.
The paper reviews what is known about outcome in adult life for more able individuals within the autistic spectrum. Because of the problems associated with differential diagnosis, the results of studies involving high-functioning people with autism and Asperger syndrome are combined. The review focuses predominantly on long-term follow-up research and covers outcome in terms of cognitive, linguistic, academic and adaptive functioning; educational and employment history; independence and social relationships; and behavioural and psychiatric problems. The stability of IQ and other measures over time, and variables related to outcome, are also investigated.
High-functioning children with autism were compared with two control groups on measures of anxiety and social worries. Comparison control groups consisted of children with specific language impairment (SLI) and normally developing children. Each group consisted of 15 children between the ages of 8 and 12 years and were matched for age and gender. Children with autism were found to be most anxious on both measures. High anxiety subscale scores for the autism group were separation anxiety and obsessive-compulsive disorder. These findings are discussed within the context of theories of autism and anxiety in the general population of children. Suggestions for future research are made.
The results of a survey of almost I300 parent members of autistic societies in the UK are described. The ages of their children ranged from 2 to 49 years. The survey focused on parents' views of the diagnostic process and data were collected on the age at which diagnosis was made, the time taken to obtain a diagnosis and the professionals involved. Differences in geographical area were also assessed. Overall, the results indicate that children are now being diagnosed earlier than in previous decades, but the average age of diagnosis is still around 6 years. There are also wide regional variations in diagnosis. The survey indicates that many parents continue to experience lengthy and often frustrating delays before they finally receive a diagnosis. Moreover, even when this process is completed, the amount of practical help subsequently provided is generally very limited. Factors related to parental satisfaction with the diagnostic process are discussed in detail.
The objective of this study was to report on the prevalence and correlates of anxiety and mood problems among 9- to 14- year-old children with Asperger syndrome (AS) and high-functioning autism. Children who received a diagnosis of autism (n 40) or AS (n 19) on a diagnostic interview when they were 4 to 6 years of age were administered a battery of cognitive and behavioural measures. Families were contacted roughly 6 years later (at mean age of 12 years) and assessed for evidence of psychiatric problems including mood and anxiety disorders. Compared with a sample of 1751 community children, AS and autistic children demonstrated a greater rate of anxiety and depression problems. These problems had a significant impact on their overall adaptation. There were, however, no differences in the number of anxiety and mood problems between the AS and autistic children within this high-functioning cohort. The number of psychiatric problems was not correlated with early autistic symptoms but was predicted to a small extent by early verbal/non-verbal IQ discrepancy scores. These data indicate that high-functioning PDD children are at greater risk for mood and anxiety problems than the general population but the correlates and risk factors for these comorbid problems remain unclear.
Autism spectrum disorders affect as many as 1 in 150 American children. Types of autism include autistic disorder, pervasive developmental disorder, and Asperger's syndrome. The cause of autism is not known.
The hallmark feature of ASD is impaired social interaction. As early as infancy, a baby with ASD may be unresponsive to people or focus intently on one item to the exclusion of others for long periods of time. A child with ASD may appear to develop normally and then withdraw and become indifferent to social engagement.
Children with an ASD may fail to respond to their names and often avoid eye contact with other people. They have difficulty interpreting what others are thinking or feeling because they can’t understand social cues, such as tone of voice or facial expressions, and don’t watch other people’s faces for clues about appropriate behavior. They lack empathy.
Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. They include autistic disorder, Rett syndrome, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome. ASD can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances. Some persons with ASD excel in visual skills, music, math and art.