Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The nature of hyperresponsiveness to sensory stimuli in children with autism, using a new observational measure, the SPA, was examined. Three groups of young participants were assessed (autism, developmental delay, typical). Across all groups, MA was a predictor of hyperresponsiveness, such that aversion to multisensory toys decreased as MA increased. The two clinical groups displayed higher levels of sensory aversion than the typical group. The groups did not differ in the proportion of children habituating to an auditory stimulus; however, nonresponders were more prevalent in the autism group. These findings elucidate developmental influences on sensory features and the specificity of hyperresponsiveness to clinical groups. Implications for understanding pathogenesis, differentiating constructs of hypersensitivity, and planning treatment are discussed.
 ...
PMID:Hyperresponsive sensory patterns in young children with autism, developmental delay, and typical development. 1755 91

The purpose of this study was to compare levels of gross motor (GM) and fine motor (FM) development in young children with autism spectrum disorder (ASD), and to compare their levels of GM and FM development with children with developmental delay (DD) without ASD. Thirty-eight children (ASD group: n = 19; DD group: n = 19) between 21 and 41 months of age were assessed using the Peabody Developmental Motor Scales, Second Edition (PDMS-2). Using PDMS-2 classifications as well as differences between standard scores, each child was placed in one of three motor profiles based on the child's relative levels of GM and FM skills (GM = FM,GM>FM, and GM<FM). The results showed that most of the children with ASD had generally similar levels of GM and FM development. The motor profiles of children with ASD were analogous to those of children with DD.
 ...
PMID:Levels of gross and fine motor development in young children with autism spectrum disorder. 1761 54

Few studies have focused on the validity of the ADI-R and ADOS in the assessment of preschool children with developmental delay. This study aimed to evaluate the diagnostic validity of the ADI-R and the ADOS in young children. Two-hundred and nine children aged 20-55 months participated in the study, 120 of whom received a diagnosis of autism. ADI-R and ADOS diagnostic classifications were compared to consensus clinical diagnoses. Children with a clinical diagnosis of autism scored significantly higher on all algorithm domains of the ADI-R and ADOS. The ADOS performed better than the ADI-R in comparison to consensus clinical diagnosis. Characteristics of the ADI-R and ADOS false positive and false negative cases are explored. Further research is recommended in terms of examining which items of the ADI-R best predict a diagnosis of autism for very young children with developmental problems.
J Autism Dev Disord 2008 Apr
PMID:Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule with young children with developmental delay: evaluating diagnostic validity. 1769 Sep 67

Helping and cooperation are central to human social life. Here, we report two studies investigating these social behaviors in children with autism and children with developmental delay. In the first study, both groups of children helped the experimenter attain her goals. In the second study, both groups of children cooperated with an adult, but fewer children with autism performed the tasks successfully. When the adult stopped interacting at a certain moment, children with autism produced fewer attempts to re-engage her, possibly indicating that they had not formed a shared goal/shared intentions with her. These results are discussed in terms of the prerequisite cognitive and motivational skills and propensities underlying social behavior.
J Autism Dev Disord 2008 Feb
PMID:Helping and cooperation in children with autism. 1769 74

Several reports indicate that autism spectrum disorder is associated with increased rate of head growth in early childhood. Increased rate of growth may index aberrant processes during early development, may precede the onset of symptoms, and may predict severity of the disease course. We examined rate of change in occipitofrontal circumference measurements (abstracted from medical records) in 28 boys with autism spectrum disorder and in 8 boys with developmental delay without autism from birth to age 36 months. Only children who had more than 3 occipitofrontal circumference measurements available during this age period were included. All data were converted to z scores based on the Centers for Disease Control and Prevention norms. Rate of growth from birth to age 36 months was statistically significantly higher for the autism spectrum disorder group than the developmental delay group, with children with autism spectrum disorder showing a statistically significant increase in occipitofrontal circumference relative to norms between 7 and 10 months; this group difference in rate of growth was more robust when height was used as a covariate. Rate of growth was not found to be different for children with autism spectrum disorder whose parents reported a history of loss of skills (regression) vs those whose parents reported early onset of autism symptoms. Findings from this study suggest that the aberrant growth is present in the first year of life and precedes the onset and diagnosis in children with autism spectrum disorder with and without a history of autistic regression.
 ...
PMID:Rate of head circumference growth as a function of autism diagnosis and history of autistic regression. 1794 Feb 44

Asperger's disorder is one of autistic spectrum disorders; sharing clinical features with autism, but without developmental delay in language acquisition. There have been some studies of intellectual functioning in autism so far, but very few in Asperger's disorder. In the present study, we investigated abstract reasoning ability, whose form of intelligence has been labeled fluid intelligence in the theory of Cattell [Cattell, R. B. (1963). Theory of fluid and crystallized intelligence: A critical experiment. Journal of Educational Psychology, 54, 1-22.], in children with Asperger's disorder. A test of fluid intelligence, the Raven's Standard Progressive Matrices Test, was administered to 17 children with Asperger's disorder and 17 age-, gender-, and FIQ-matched normal children. The results showed that children with Asperger's disorder outperformed on the test of fluid reasoning than typically developing children. We suggest that individuals with Asperger's disorder have higher fluid reasoning ability than normal individuals, highlighting superior fluid intelligence.
 ...
PMID:Superior fluid intelligence in children with Asperger's disorder. 1798 Sep 44

We describe a nondysmorphic patient with developmental delay and autism spectrum disorder who has a missense mutation in the Jumonji AT-rich interactive domain 1C (JARID1C) gene. This child first presented at 30 months of age with stereotyped and repetitive behaviors, impairment in social reciprocity and in the use of multiple nonverbal behaviors, and developmental delay primarily in the language domain. A diagnosis of autism was made and subsequently confirmed at the current age of 47 months. Cytogenetic and fragile X studies were normal. Mutational analysis revealed a novel missense mutation in exon 16 of the JARID1C gene that results in an arginine to tryptophan substitution at amino acid 766 (R766W). Sequence alignment analysis with multiple available eukaryotic sequences including the homologous proteins of mouse and zebrafish demonstrated that the affected amino acid is conserved. JARID1C has not previously been implicated in autism susceptibility. Recent novel molecular evidence suggests that it is a histone demethylase specific for di- and trimethylated histone 3 lysine 4 (H3K4) and functions as a transcriptional repressor by fostering REST-mediated neuronal gene regulation. The JARID1C-regulated genes SCN2A, CACNA1H, BDNF, and SLC18A1 have previously been associated with autism and cognitive dysfunction. This patient brings the total number of reported JARID1C mutations to 14. This presentation both extends the range of neurocognitive phenotypes attributable to mutations in this gene and illustrates the importance of molecular studies and DNA sequence analysis for accurate diagnosis of monogenic causes of autism.
 ...
PMID:A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). 1820 67

Monozygotic 3.5-year-old twin boys presented for developmental assessment with a history of global developmental delay, behavioral issues including self-harm, and severe receptive and expressive language delays. Chromosome testing confirmed for both a 17p11.2 interstitial microdeletion commonly seen in Smith-Magenis syndrome (SMS), which is characterized by developmental delay, cognitive impairment, and facial and behavioral phenotype. To our knowledge, this is the first description in the literature of monozygotic twins with SMS. Despite their zygosity, the twins had marked differences in presentation including cardiac and renal anomalies, language development, and behavioral phenotype. Both twins displayed disordered speech development, impairments in social interaction, and stereotyped behaviors consistent with autism spectrum disorder, common in the vast majority of cases of SMS. Examining the differences in behavioral and clinical phenotype in monozygotic twins may lead to a better understanding of the cause of the clinical variability seen in SMS, as well as the natural history of this syndrome.
 ...
PMID:A case report of monozygotic twins with Smith-Magenis syndrome. 1830 19

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (CGH) is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy). Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements. Individuals with deletion 22q13 should have routine examinations by the primary care physician as well as genetic evaluations with referral to specialists if neurological, gastrointestinal, renal, or other systemic problems are suspected. Affected individuals benefit from early intervention programs, intense occupational and communication therapies, adaptive exercise and sport programs, and other therapies to strengthen their muscles and increase their communication skills. No apparent life-threatening organic abnormalities accompany the diagnosis of deletion 22q13.
 ...
PMID:Deletion 22q13.3 syndrome. 1850 57

Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
 ...
PMID:Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. 1856 83


<< Previous 1 2 3 4 5 6 7 8 9 10