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

Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau-Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield.
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PMID:Etiologic yield of autistic spectrum disorders: a prospective study. 1641 94

We describe a familial interstitial deletion of 7.7-Mb involving Xp22.2-22.3. The deletion was transmitted from an asymptomatic mother to her two children with severe developmental delay, no speech development and autistic behavior. Assessment of the deletion boundaries by FISH and PCR analyses indicated that the deletions encompasses 27 genes. Several of these genes are associated with known disorders, like KAL1 (Kallmann syndrome), steroid sulfatase (STS) (X-linked ichtyosis), and arylsulfatase E (ARSE) (chondrodysplasia punctata). The deletion also includes all four VCX genes (VCX-A, VCX-B1, VCX-B, and VCX-C) and the neuroligin 4 (NLGN4) gene. VCX-A deficiency has been shown previously to be associated with mental retardation and NLGN4 mutations lead to mental retardation in conjunction with autism. Functional deficiency of both MRX genes, VCX-A and NLGN4, are most likely associated with the impaired cognitive development of the patients described here. The phenotype associated with the Xp deletion was highly variable in female carriers and might be attributed to unfavorable X inactivation. However, all the 27 genes included in the deleted interval escape X inactivation and are expressed at variable levels from the normal X chromosome. Thus, the overall X inactivation pattern and inter-individual expression variability of the genes in distal Xp might be determinants of the phenotype associated with the deletion.
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PMID:Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. 1647 Jul 42

Acts of dyadic orienting (responses to attention bids by a researcher) and acts of joint attention (e.g. pointing and showing behaviors) were observed in preschool children with autism and children with developmental delay. Children with autism responded to fewer adult vocal and non-vocal attention bids that were made singly and by combining modalities (e.g. name call plus touch). Sensitivity in dyadic orienting was significantly related to child-initiated acts of joint attention (IJA). Sensitivity to dyadic orienting was also significantly related to language and non-verbal ability. These findings indicate that dyadic orienting difficulties are found alongside triadic joint attention difficulties in children with autism.
J Autism Dev Disord 2006 Feb
PMID:Dyadic orienting and joint attention in preschool children with autism. 1650 42

Fragile X syndrome is the most common inherited form of mental retardation, affecting approximately 1 in 4,000 males and 1 in 8,000 females. DNA-based molecular analysis is the preferred method of diagnosis for fragile X syndrome and its premutations. Prenatal testing for fragile X syndrome should be offered to known carriers of the premutation or mutation. Testing for fragile X syndrome should be considered for any child with developmental delay of uncertain etiology, autism, or autistic behavior or for any individual with mental retardation of uncertain etiology. Women with ovarian failure or an elevated follicle-stimulating hormone level before 40 years of age without a known cause should be screened to determine whether they have the fragile X premutation.
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PMID:ACOG committee opinion. No. 338: Screening for fragile X syndrome. 1673 87

Tuberous sclerosis (TS) is a relatively rare, autosomal dominant syndrome that displays high genetic penetrance in affected families. It is identified by a classic triad of symptoms including epilepsy, skin lesions, and mental retardation. Tuberous sclerosis causes hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, lungs, and liver. Awareness of the signs and symptoms and the organs involved is critical to provide safe and effective anesthesia care. We describe a 10-year-old girl with TS scheduled to receive a general anesthetic for laser treatment of facial angiofibromas. The patient had several coexisting maladies from TS, including hypertension, autism, seizure disorder, cardiac rhabdomyomas, developmental delay, and bilateral polycystic renal disease. The laser procedure was performed, and there were no surgical or anesthetic complications. However, the potential for complications due to TS remained high throughout the provision of anesthesia care. Increased knowledge of TS and diligence in anesthesia practice can greatly reduce these risks.
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PMID:Anesthesia concerns for children with tuberous sclerosis. 1678 16

Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, developmental delay, mental retardation, and autism. These features are generally accepted to result from structural brain abnormalities that are found in patients with TSC. Although much progress has recently been made in discerning the function(s) of the TSC genes, many questions remain as to the role of these genes in brain development and homeostasis. This review will summarize recent progress and suggest future avenues of basic science research.
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PMID:The neurobiology of tuberous sclerosis complex. 1681 74

Causes and contributing factors for autism are poorly understood. Evidence suggests that prevalence is rising, but the extent to which diagnostic changes and improvements in ascertainment contribute to this increase is unclear. Both genetic and environmental factors are likely to contribute etiologically. Evidence from twin, family, and genetic studies supports a role for an inherited predisposition to the development of autism. Nonetheless, clinical, neuroanatomic, neurophysiologic, and epidemiologic studies suggest that gene penetrance and expression may be influenced, in some cases strongly, by the prenatal and early postnatal environmental milieu. Sporadic studies link autism to xenobiotic chemicals and/or viruses, but few methodologically rigorous investigations have been undertaken. In light of major gaps in understanding of autism, a large case-control investigation of underlying environmental and genetic causes for autism and triggers of regression has been launched. The CHARGE (Childhood Autism Risks from Genetics and Environment) study will address a wide spectrum of chemical and biologic exposures, susceptibility factors, and their interactions. Phenotypic variation among children with autism will be explored, as will similarities and differences with developmental delay. The CHARGE study infrastructure includes detailed developmental assessments, medical information, questionnaire data, and biologic specimens. The CHARGE study is linked to University of California-Davis Center for Children's Environmental Health laboratories in immunology, xenobiotic measurement, cell signaling, genomics, and proteomics. The goals, study design, and data collection protocols are described, as well as preliminary demographic data on study participants and on diagnoses of those recruited through the California Department of Developmental Services Regional Center System.
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PMID:The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. 1683 68

This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns without motor delay. Descriptive analysis showed all children with ASD had delays in gross motor skills, fine motor skills, or both. Children with ASD and children with DD showed significant impairments in motor development compared to children who had developmental concerns without motor delay. Motor scores of young children with ASD did not differ significantly on motor skill measures when compared to young children with DD.
J Autism Dev Disord 2007 Feb
PMID:A comparison of motor delays in young children: autism spectrum disorder, developmental delay, and developmental concerns. 1686 47

This study compared behavioral presentation of toddlers with autistic spectrum disorders (ASD) and toddlers with global developmental delay (DD) or developmental language disorder (DLD) who display some characteristics of ASD using the diagnostic algorithm items from the Autism Diagnostic Observation Schedule, Generic (ADOS), the Childhood Autism Rating Scale (CARS), and Modified Checklist for Autism in Toddlers (M-CHAT). To date, 195 children have failed the M-CHAT and have been diagnosed with ASD, DD or DLD. Children with ASD had prominent and consistent impairments in socialization skills, especially joint attention skills and were more impaired in some aspects of communication, play, and sensory processing. Children with ASD and children with DD/DLD shared common features, but certain behavioral markers differentiated the two groups.
J Autism Dev Disord 2007 Mar
PMID:Differentiating between autism spectrum disorders and other developmental disabilities in children who failed a screening instrument for ASD. 1689 77

Autism involves a basic impairment in social cognition. This study investigated early stage face processing in young children with autism by examining the face-sensitive early negative event-related brain potential component in 3-4 year old children with autism spectrum disorder (ASD), typical development, and developmental delay. Results indicated that children with ASD showed a slower electrical brain response to faces and a larger amplitude response to objects compared to children with typical development and developmental delay. These findings indicate that children with ASD have a disordered pattern of brain responses to faces and objects at an early age.
J Autism Dev Disord 2006 Oct
PMID:ERP evidence of atypical face processing in young children with autism. 1689


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