PubMed · 15264503
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Gary B Mesibov. 2004. Program for child with autism.. https://doi.org/10.1023/b%3Ajadd.0000029673.75348.6a
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A 47-year-old autistic painter developed lip cancer after chronic excessive sun exposure. As she feared sun withdrawal during inpatient surgical excision, she refused this first-line treatment and therefore received outpatient X-ray therapy. The reason why she developed premature lip cancer and refused to stay in a hospital and the way she illustrated her "sun addiction" in her pictures is presented. Two years later she was free of recurrence. She has remained a sun worshipper until now, but after X-ray therapy she used daily sunscreens with very high sun protection factors, which attenuated the actinic damage. Considering the specific personality of the autistic painter, outpatient radiation therapy was a good alternative to inpatient surgery.
We report a possible association between autism in our sample and a recently described brain-expressed tryptophan hydroxylase gene (TPH2). The well-replicated involvement of the serotonin neurotransmitter system in autism has stimulated interest in many genes in the serotonin pathway as possible candidates for mutations leading to autism susceptibility. Serotonin synthesis is controlled by the rate-limiting enzyme tryptophan hydroxylase. A mouse study of the original tryptophan hydroxylase gene (TPH1) and the new isoform (TPH2) showed that while TPH1 is primarily expressed peripherally, TPH2 is found exclusively in brain tissue. We searched for human sequence variants in 6,467 nucleotides covering all 11 exons of TPH2, and also 248 nucleotides upstream of the start codon, and 935 nucleotides downstream of the stop codon. Eighteen variants were characterized in 88 subjects with autism studied at our two centers, and 95 unrelated control subjects. Using a model-free association method and empirical P value estimation, two variants showed frequency differences between autism and control subjects (P = 0.01 for a T-G variant in intron 1, and P = 0.02 for a A-T variant in intron 4). A haplotype including these variants showed slightly increased significance (P = 0.005). Further investigation of clinical phenotypes showed a possible association between presence of the variants at these two SNPs and higher scores on the Autism Diagnostic Interview (ADI) domain describing repetitive and stereotyped behaviors (P = 0.007). We conclude that TPH2 may play a modest role in autism susceptibility, perhaps relating specifically to repetitive behaviors, pending replication of this result.
Two preliminary studies have indicated a variation in season of birth in severely language-disordered children. In the current study, the season of birth in 472 Danish children with language disorder born between 1958 and 1976 was compared with the season of birth of all Danish live-born children in the same period. For some part of the period (1964-1969), an excess of boys born in November was found. Particular attention was given to the inconsistent findings also found in language-related disorders like infantile autism and dyslexia and the choice of statistical method to determine seasonality.