2007
DOI: 10.1001/archpedi.161.4.411
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Despite Major Challenges, Autism Research Continues to Offer Hope

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Cited by 6 publications
(7 citation statements)
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“…78,[81][82][83][84] Although at least 1 autism-linked abnormality has been found on almost every chromosome, sites on a few chromosomes (X, 2, 3, 7, 15, 17, and 22) seem to be more promising than others. 67,68,75,79,[85][86][87][88][89][90] Maternally derived 15q duplications are common; depending on the investigator, yields vary from 1% to 10%, 91 with most in the range of 1% to 3%. 92,93 Patients with these duplications may not display dysmorphic features, but they often have hypotonia and/or global developmental delay (GDD) and may develop seizures later.…”
Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning
confidence: 99%
See 1 more Smart Citation
“…78,[81][82][83][84] Although at least 1 autism-linked abnormality has been found on almost every chromosome, sites on a few chromosomes (X, 2, 3, 7, 15, 17, and 22) seem to be more promising than others. 67,68,75,79,[85][86][87][88][89][90] Maternally derived 15q duplications are common; depending on the investigator, yields vary from 1% to 10%, 91 with most in the range of 1% to 3%. 92,93 Patients with these duplications may not display dysmorphic features, but they often have hypotonia and/or global developmental delay (GDD) and may develop seizures later.…”
Section: Table 2 Diagnostic Criteria For 29980: Asperger's Disorder mentioning
confidence: 99%
“…Some of these tests include functional neuroimaging, immunologic studies, metabolic testing, fibroblast karyotypes, neuroligin gene testing, mitochondrial gene sequencing, genomic microarrays, and identification of endophenotypes. 90,319 Although these tests may not be relevant in clinical practice, they do have the potential to expand the fund of knowledge about ASDs, reveal more specific ASD subtypes, and provide a better understanding of coexisting disorders and future prognosis. As the fund of knowledge regarding genetic markers for ASDs expands and technology continues to become more sophisticated, the yield of these laboratory investigations may eventually prove to be useful in the routine clinical evaluation of children with idiopathic ASDs.…”
Section: Comprehensive Evaluation (See Step 82a)mentioning
confidence: 99%
“…This does not mean there is no advantage to use them for genetic studies. 74,75 More and larger studies in ethnically homogenous populations are needed to search for a possible correlation between MPAs and family history as well as to achieve sufficient power to search the potential role of moderating variables such as gender, autism symptoms and IQ.…”
Section: Recommendations For Future Researchmentioning
confidence: 99%
“…On almost every chromosome, at least one ASD linked locus has been identified; more linked to it than others are those on X, 2, 3, 7, 11, 15, 17, and 22. It seems that such linked genes are crucial for the normal development of neuro-circuits concerned with communication, social reciprocity, and emotional expression which are impaired in autistics [19]. On the other hand, about 20% of autistic children were found to suffer from comorbid genetic conditions as Down syndrome, fragile X syndrome, phenylketonuria, tuberous sclerosis, Smith Lemli Opitz syndrome, and others [20].…”
Section: What Is Behind the Occurrence Of Autism Spectrum Disorder?mentioning
confidence: 99%