1. Goldman S, Wang C, Salgado MW, Greene PE, Kim M, Rapin I. {{Motor stereotypies in children with autism and other developmental disorders}}. {Dev Med Child Neurol};2009 (Jan);51(1):30-38.
The purpose of the study was to count and characterize the range of stereotypies – repetitive rhythmical, apparently purposeless movements – in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy recorded during 15 minutes of archived videos of standardized play sessions in 277 children (209 males, 68 females; mean age 4y 6mo [SD 1y 5mo], range 2y 11mo-8y 1mo), 129 with autistic disorder (DSM-III-R), and 148 cognitively-matched non-autistic developmentally disordered (NADD) comparison children divided into developmental language disorder and non-autism, low IQ (NALIQ) sub-groups. The parts of the body involved and characteristics of all stereotypies were scored blind to diagnosis. More children with autism had stereotypies than the NADD comparison children. Autism and, to a lesser degree, nonverbal IQ (NVIQ) <80, especially in females contributed independently to the occurrence, number, and variety of stereotypies, with non-autistic children without cognitive impairment having the least number of stereotypies and children with autism and low NVIQ the most. Autism contributed independently to gait and hand/finger stereotypies and NVIQ <80 to head/trunk stereotypies. Atypical gazing at fingers and objects was rare but virtually limited to autism. Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation.
2. Koyama T, Tachimori H, Sawamura K, Koyama A, Naganuma Y, Makino H, Takeshima T. {{Mental health literacy of autism spectrum disorders in the Japanese general population}}. {Soc Psychiatry Psychiatr Epidemiol};2008 (Dec 18)
OBJECTIVE: We aimed to clarify the public’s mental health literacy of autism spectrum disorders (ASD). METHODS: Using a vignette of a young child, 500 Japanese participants were asked their perspectives, such as causes and appropriate coping strategies. For each response from those respondents who correctly identified the child as having autism, we tested the effects of sex and generation. RESULTS: Two hundred twenty-nine respondents (45.8%) correctly identified the child as having autism. Significantly (P < 0.05) more females planned practical coping strategies such as contacting public agencies, whereas males had relatively more irrelevant perceptions, for example, significantly more males attributed ASD to social environment. Significantly more young respondents expected psychiatric treatments such as antipsychotic administration to be effective, and more seniors estimated low that the prevalence is approximately 0.01% or less. CONCLUSIONS: The mental health literacy of ASD among the Japanese public appears to be acceptable but there is still much room for improvement. Females showed more accurate knowledge, possibly reflecting gender roles. Some young people are not likely to know of the impact of psychiatric treatment, and seniors appear to be unaware of the current broadened recognition of ASD. Continued efforts to disseminate accurate information are required, particularly among males.
3. Rinehart N. {{Motor stereotypies in children with autism and other developmental disorders}}. {Dev Med Child Neurol};2009 (Jan);51(1):2-3.
4. Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS. {{Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism}}. {Cytogenet Genome Res};2008;122(2):181-187.WAGR (Wilms tumor, Aniridia,
Genitourinary malformations and mental Retardation) syndrome is a rare genomic disorder caused by deletion of the 11p14-p12 chromosome region. The majority of WAGR patients have mental retardation and behavioral problems, and more than 20% of the patients also have features of autism. While the Wilms tumor/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown. Using oligonucleotide arrays, we have characterized the 11p14-p12 deletions in 31 patients and identified all the genes involved in each deletion. The deletions had sizes ranging from 4.9 to 23 Mb that encompass 18-62 genes (40 on average). In addition to WT1 and PAX6, all the patients had deletion of PRRG4 (transmembrane gamma-carboxyglutamic acid protein 4). The majority of them had deletion of BDNF (brain-derived neurotrophic factor) and SLC1A2 [solute carrier family 1 (glial high affinity glutamate transporter) member 2]. Deletion of BDNF and SLC1A2 occurred in patients with autism more frequently than in those without autism. Literature review on the functions of the genes suggests that haploinsufficiency of SLC1A2, PRRG4, and BDNF may contribute to mental retardation and behavioral problems. In particular, BDNF may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of MECP2. We observed that all the de novo deletions occurred in the chromosome 11 inherited from the father in the families genotyped, implying a predisposition for de novo mutations occurring in spermatogenesis and possible involvement of imprinting in cognitive impairment in WAGR patients.
