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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two studies were conducted to examine executive function skills in siblings of children with autism. In Study 1, four computerised tasks (three executive tasks: the ID/ED set-shifting task; a spatial working memory task; and the Tower of London planning task; and a control spatial span task) from the CANTAB battery were used to compare 31 siblings of children with autism with 32 siblings of children with developmental delay and 32 children from unaffected families. In Study 2, the two sibling groups were compared on two manually administered executive tasks (verbal fluency and list recall). As a group, autism siblings showed superior spatial and verbal span, but a greater than expected number performed poorly on the set-shifting, planning, and verbal fluency tasks. There were no group differences in working memory performance. The implications of these findings for the broader phenotype of autism is discussed.
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PMID:Towards a cognitive phenotype for autism: increased prevalence of executive dysfunction and superior spatial span amongst siblings of children with autism. 1043 5

The association between, and stability of, clinical diagnosis and diagnosis derived from the Autism Diagnostic Interview-Revised (ADI-R; Lord, Rutter, & Le Couteur, 1994) was examined in a sample of prospectively identified children with childhood autism and other pervasive developmental disorders assessed at the age of 20 months and 42 months. Clinical diagnosis of autism was stable, with all children diagnosed with childhood autism at age 20 months receiving a diagnosis of childhood autism or a related pervasive developmental disorder (PDD) at age 42 months. Clinical diagnosis of childhood autism was also reasonably sensitive, with all children who went on to receive a clinical diagnosis of childhood autism at 42 months being identified as having autism or PDD at 20 months. However, clinical diagnosis for PDD and Asperger's syndrome lacked sensitivity at 20 months, with several children who subsequently received these diagnoses at 42 months receiving diagnoses of language disorder or general developmental delay, as well as in two cases being considered clinically normal, at the earlier timepoint. The ADI-R was found to have good specificity but poor sensitivity at detecting childhood autism at 20 months; however, the stability of diagnosis from 20 to 42 months was good. In addition, the ADI-R at age 20 months was not sensitive to the detection of related PDDs or Asperger's syndrome. The continuity and discontinuity between behavioural abnormalities identified at both timepoints in the three domains of impairment in autism was examined, both in children who met final clinical criteria for an autistic spectrum disorder, and for children with language disorder who did not, as well as for a small sample of typically developing children.
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PMID:Autism spectrum disorders at 20 and 42 months of age: stability of clinical and ADI-R diagnosis. 1043 6

Interstitial deletions in the terminal region of chromosome 6 are rare. We describe three new cases with subtle interstitial deletions in the q24-q26 region of the long arm of chromosome 6. The karyotypes were analyzed at a 550 band level. Patient1 is a 9-month-old boy with an interstitial deletion, del(6)(q24.2q25.1), developmental delay, low birth weight, hypotonia, heart murmur, respiratory distress, craniofacial and genital anomalies. This is the first report of a case with deletion del(6)(q24.2q25.1). Patient 2 is a 17-year-old young man with an interstitial deletion del(6)(q25.1q25.3), developmental delay, short stature, mental retardation, autism, head, face, chest, hand and feet anomalies and a history of seizures. For the first time autism was described as a manifestation in 6q deletions. Patient 3 is baby boy with a de novo interstitial deletion, del(6)(q25.1q26), anomalies of the brain, genital organs, limbs and feet. This is the first report of a case with deletion, del(6)(q25.1q26). In all three patients, fluorescence in situ hybridization (FISH) using chromosome 6 painting probe ruled out an insertion. The ESR (6q25.1) and TBP (6q27) probes were used to confirm the breakpoints. Since TBP signal is present in all cases, it confirmed an interstitial deletion proximal to this probe. Patient 1 has a deletion of the ESR locus; Patient 2 and 3 have signals for the ESR locus on both chromosomes 6. Therefore the deletion in Patients 2 and 3 are between ESR and TBP loci distal to that of Patient 1. FISH validated the deletion breakpoints assessed by conventional cytogenetics.
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PMID:Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH. 1052 41

An increasing number of women with cerebrospinal fluid shunts are surviving to child-bearing age, and are making independent decisions in regard to planning their families. As a result, a broad range of interdisciplinary health care professionals will require information about the management of these patients, especially during pregnancy and delivery. The purpose of this ongoing study is to gather comprehensive data from shunted women regarding their clinical history during pregnancy and within the six-month post-partum period. As part of this study, the following questions were addressed: 1. How does maternal shunt dependency influence the course of pregnancy and pregnancy outcomes? 2. What neurosurgical complications characterize this population of patients? 3. What complications of shunt dependency influence obstetrical management including pre-natal testing and delivery? 4. What are the implications of shunt dependency with respect to general reproductive health concerns within this population? A total of 70 respondents, 18-41 years old and accounting for 138 pregnancies, completed a questionnaire providing information on maternal background, medical history, shunt performance during pregnancy, management of delivery, pregnancy outcomes, and unusual complications. One hundred three (103) pregnancies resulted in 105 live births including two surviving sets of twins; of these, 84 occurred in women with ventriculoperitoneal shunts (including both mothers who gave birth to live twins). Four women underwent therapeutic abortions, five delivered pre-term, one mother delivered a stillborn infant, and 16 experienced 32 miscarriages (including two ectopic pregnancies, and 33 fetal losses). Three women had seizures during pregnancy. Nine mothers reported an increase in headache activity during pregnancy. Twelve described abdominal pains during the course of pregnancy with anecdotal reports of increased frequency of painful episodes during the first and third trimesters. Twelve babies were diagnosed with congenital defects, including one pair of fraternal twins individually diagnosed with symmetric parietal foramina. Seven additional children were diagnosed with developmental disabilities including attention deficit disorder (ADD), attention deficit hyperactivity disorder (ADHD), pervasive developmental delay (PDD), and autism. Shunt malfunctions and revisions occurred seven times (four women) during pregnancy, and in 24 pregnancies (13 women) within six months of delivery. One malfunction and revision followed the miscarriage of twins at 12 gestational weeks. No acute malfunctions requiring immediate revision occurred during delivery, although two women reported severe headaches during labor. Transient signs of raised intracranial pressure occurred in 15 mothers over the course of 19 pregnancies which did not require surgical revision of the shunt following delivery or termination of pregnancy. No signs of shunt malfunction were identified in 100 of the pregnancies described in this series; 31 of these resulting in miscarriage and 69 resulting in live births. This study extends observations made previously to a larger population of shunt dependent mothers, and nearly doubles the amount of data available in our last publication. The results suggest that maternal shunt dependency carries a relatively high incidence of complications for some patients, but that proper management of these patients can lead to normal pregnancy and delivery.
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PMID:Hydrocephalus and the reproductive health of women: the medical implications of maternal shunt dependency in 70 women and 138 pregnancies. 1067 83

Three experiments examined the role of attention in explaining dyadic (child-adult) and triadic (child-adult-object) joint attention difficulties in autism. Experiments 1 and 2 investigated children's ability to orient to an adult's attention bid and to follow the direction of a human or nonhuman cue. Experiment 3 tested ability to disengage and shift attention to objects. Results showed autism-specific difficulties at both dyadic and triadic levels. Children with autism were less responsive than developmentally delayed controls in orienting to attention bids and in following a human head-turn cue yet had no difficulty in shifting attention and were faster overall in orienting to targets. Results suggest a specific developmental delay in which children with autism rely on the presence of objects in the visual field to guide action. The relation between this problem and autistic children's difficulties with human communicative signals is discussed.
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PMID:Attention and joint attention in preschool children with autism. 1074 83

We have identified a one megabase deletion in the 15q22-15q23 region in a patient with autism, developmental delay, and mild dysmorphism. Genes that map within the deletion region and genes that are interrupted or rearranged at the deletion breakpoints are candidate genes for autism. Fluroescence in situ hybridization studies in this patient revealed that part or all of the PML gene is absent from one chromosome 15 and a BAC clone containing the D15S124 gene locus hybridizes to only one chromosome 15. BAC clones containing the PTPN9, and SLP-1[hUNC24] genes showed markedly reduced hybridization in the 15q22-q23 region on one chromosome 15 in the patient. These BACs also hybridize to the 15q11-q13 region in close proximity to SNRPN and HERC2, and in this region there is equal intensity of signal on the normal and on the deleted chromosome. There are previous reports of deletions and duplications of the 15q11-q13 region in patients with autism. Our patient represents the first report of a 15q22-q23 deletion. Hybridization of the PTPN9 and Slp-1 Bac clones to the 15q11-q13 and the 15q22-q23 regions of chromosome 15 may be due to the presence of PTPN9 or SLP-1 gene sequences or to the presence of other gene sequences or to non-coding homologous DNA sequences. The PTPN9 gene encodes a non-receptor protein tyrosine phosphatase. The Slp-1 [hUNC24] gene is expressed mainly in the brain. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:765-770, 2000.
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PMID:Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. 1112 Nov 77

The diagnosis of Angelman syndrome (AS) can be confirmed by genetic laboratory in about 80% of cases. In 20%, the diagnosis remains clinical, but often there is uncertainty about the correctness of the clinical diagnosis and alternative diagnoses may be investigated. In evaluating individuals for AS in our center since 1989, we have encountered several mimicking conditions, and additional ones have been reported in the literature. Mimicking conditions can be grouped into the areas of chromosome, single gene, and symptom complex anomalies. Microdeletions or microduplications include chromosome regions 2,4,17, 22, and 15. Single gene conditions include methylene tetrahydrofolate reductase deficiency (MTHFR), Rett syndrome, alpha-thalassemia retardation syndrome (ATR-X), and Gurrieri syndrome. Symptom complexes include cerebral palsy, static encephalopathy, Lennox-Gastaut syndrome, autism spectrum disorder, pervasive developmental delay (PDD), and mitochondrial disorders. We present a review of these mimicking disorders to increase the awareness about conditions that can lead to an incorrect clinical diagnosis of AS.
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PMID:Angelman syndrome: mimicking conditions and phenotypes. 1175 74

We describe the case of a patient with Rett syndrome, a syndrome characterized by progressive infant encephalopathy, developmental delay, dementia, autism, ataxia, microcephaly, spastic paraparesis, and autonomic neuropathy with constipation. At colonoscopy, multiple foci of tiny white, sessile, polypoid lesions were seen throughout the colon and rectum, mimicking the appearances of small hyperplastic or adenomatous polyps, associated with generalized melanosis coli. This is the first case to our knowledge describing melanosis coli in a patient with Rett syndrome. As melanosis pigment deposition is characteristically not seen in lymphoid tissue, the lymphoid tissue was identifiable at endoscopy as multiple white nodules mimicking generalized colonic polyposis throughout the colon. We discuss the likely mechanisms of lymphoid hyperplasia and coexistent melanosis coli in Rett syndrome.
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PMID:Colonic lymphoid hyperplasia in melanosis coli. 1147 72

This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected individuals from six families were evaluated in detail, using standardized and semi-standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence of autism spectrum disorders as well as the relationship between the parental origin of the duplication and the phenotypic effects. Assessments of the affected individuals were compared with evaluations of the unaffected relatives from the same families. Results indicated that duplications in the region were associated with variable degrees of intellectual impairments and motor coordination problems. Four of the subjects received a diagnosis of pervasive developmental disorder. Three of these cases were probands and only one met criteria for classic autism. There was very little evidence of the duplication cosegregating with autism spectrum disorder diagnosis. Paternally inherited duplications were significantly less likely to give rise to phenotypic effects. The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders. They also suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments. Further research will be required to clarify the range and basis of the phenotypic manifestations.
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PMID:The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. 1180 14

This study utilized electroencephalographic recordings to examine whether young children with autism spectrum disorder (ASD) have impaired face recognition ability. High-density brain event-related potentials (ERPs) were recorded to photos of the child's mother's face versus an unfamiliar female face and photos of a favorite versus an unfamiliar toy from children with ASD, children with typical development, and children with developmental delay, all 3 to 4 years of age (N = 118). Typically developing children showed ERP amplitude differences in two components, P400 and Nc, to a familiar versus an unfamiliar face, and to a familiar versus an unfamiliar object. In contrast, children with ASD failed to show differences in ERPs to a familiar versus an unfamiliar face, but they did show P400 and Nc amplitude differences to a familiar versus an unfamiliar object. Developmentally delayed children showed significant ERP amplitude differences for the positive slow wave for both faces and objects. These data suggest that autism is associated with face recognition impairment that is manifest early in life.
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PMID:Neural correlates of face and object recognition in young children with autism spectrum disorder, developmental delay, and typical development. 1203 46


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