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

Aim of the study was (1) to evaluate sensorimotor development of children with autism in comparison with that of children with developmental delay, (2) to verify the possible unevenness of the developmental profiles through correlations amongst domains and between domains and chronological age. 46 children with autism were compared with 45 children with developmental delay. Mean chronological age was 3.7 yr. in children with autism and 3.6 yr. in children with mental retardation. Mean mental age was 1.3 yr. in children with autism and 1.1 yr. in children with developmental delay. Ordinal scales of Uzgiris-Hunt show that the two groups score significantly differently on the scales of Object Permanence, Means-Ends, Operational Causality, and Spatial Relations and that scores were higher for the children with autism. The comparison made between the developmental levels of each group indicate that the sensorimotor profile in children with developmental delay is fairly homogeneous, while it appears uneven in autistic children, for whom Object Permanence appears to be the most advanced skill, Verbal and Gestural Imitation and Schemes for Relating to Objects the lowest. The results are in keeping with the assumption that the pivotal defect of autism is a deficit in social interactive skills.
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PMID:Profiles of sensorimotor development in children with autism and with developmental delay. 1292 62

We review the evidence for the frequency of the fragile X syndrome (FXS), other X-linked abnormalities, and other chromosomal disabilities of Turkish pediatric psychiatry outpatients with intellectual disability. Reported clinical features and genetic findings were used in cytogenetic screenings to estimate the prevalence of the fragile X (fra X) and other chromosomal aberrations in 120 patients with mental retardation, language disorders, attention deficit hyperactivity, or developmental delay, in comparison with 30 healthy children. Data on the clinical, intellectual and behavioral findings in 14 fra X positive children (11.7%) is presented. Ten of the 120 patients (8.3%) had enlargement of the heterochromatin region of chromosome 9. Other chromosomal aberrations and autosomal fragile sites (FS) were also observed. There was a statistically significant difference in the autosomal and X-linked FS between the study and control groups (p < 0.05). The tests for the fra X chromosome are likely to be of diagnostic benefit in young children with autism or developmental delay, particularly in speech, and who have large and prominent ears.
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PMID:A cytogenetic study in 120 Turkish children with intellectual disability and characteristics of fragile X syndrome. 1295 Jan 12

We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger brother was affected by partial biotinidase deficiency diagnosed at birth through our neonatal screening program. He was precociously treated with cofactor biotin therapy (10 mg daily) and did not show any behavioral abnormality or developmental delay. Since the brain is quite vulnerable to biotin deficiency, delayed biotin therapy could result in neurological damage. Our patient is the first case of partial biotinidase deficiency associated with autism. We hypothesize that the low biotinidase activity could have caused biotin deficiency in his brain and cerebrospinal fluids and consequently serious neurological problems, such as stereotyped and autistic behaviors, which were irreversible in spite of biotin supplementation.
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PMID:A case of partial biotinidase deficiency associated with autism. 1368 Apr 8

The purpose of this study was to examine adaptive behaviour profiles in children with autism and moderate to severe developmental delay. Previous research has found that children with autism present a characteristic pattern of adaptive behaviour, as measured by the Vineland Adaptive Behavior Scales (VABS) (deficit in the domain of socialization, relative deficit in the domain of communication and relative strength in the domain of daily living). In this study VABS were administered (as part of a comprehensive evaluation of abilities) to a sample of 50 children with moderate to severe developmental delay (23 children with autism and 27 chronological and developmental age matched non-autistic children). Contrary to initial predictions, the sample presented fairly homogeneous adaptive behaviour profiles. Results are discussed with respect to the effectiveness of adaptive behaviour profiles in the detection of autism and the importance of employing limited chronological and developmental age ranges in the study of autism in infancy.
Autism 2003 Sep
PMID:Vineland adaptive behavior profiles in children with autism and moderate to severe developmental delay. 1451 60

In this study, we longitudinally followed into childhood a cohort of preschool children, initially diagnosed as autistic or non-autistic with developmental delay, to evaluate the stability of cognitive assessments performed during the preschool period. The consistency in group means and intra-individual stability of developmental quotients (DQ) and non-verbal intelligence quotients (IQs) were compared for these two groups, which were matched by chronological age, initial non-verbal IQ/DQs, initial test given, and length of follow-up interval. The case group comprised 16 autistic children with average age at initial assessment of 3 years 8 months. The control group comprised 16 non-autistic developmental delayed children with average age at initial assessment of 3 years 11 months. Mean DQ/non-verbal IQ at initial assessment was 73.9+/-23.9 for the case group and 80.3+/-23.2 for the control group. ANOVA yielded no significant effect of time or time x diagnosis interaction (F=0.183, P=0.675). The absolute difference in scores and group means were equivalent for both groups of children, with no difference in patterns of change. Correlations between DQ/non-verbal IQs at initial assessment and follow-up were significant and high for the two groups (autistic group: r=0.87; control: r=0.77). Intellectual functioning can be a valid measure in Taiwanese preschool children with autism, and has an equivalent meaning for children with autism and for non-autistic children with developmental delay. Though the follow-up period is too short for definite prognostic conclusions to be drawn, we think that non-verbal intelligence should be an essential assessment for preschool oriental autistic children so that sound expectation and treatment plan can be made.
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PMID:Preschool children with autism spectrum disorders in Taiwan: follow-up of cognitive assessment to early school age. 1458 Jun 67

The pediatric otolaryngologist cares for children who have abnormal language as a primary or secondary deficiency. Five children, each with a different form of language disorder, are presented. These are children with specific language impairment (SLI) expressive, pervasive developmental delay (autism), expressive language delay associated with severe to profound hearing loss early in life, language delay secondary to a moderate to severe hearing loss diagnosed late and not cared for, and language delay secondary delay secondary to social deprivation and otitis media with effusion.
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PMID:Five children--vignettes of language disorders. 1466 83

Deletions of the sub-telomeric region of chromosome 22 have been associated with mental retardation, developmental delay, and autistic behaviors. This study investigated sub-telomeric anomalies of chromosome 22 using fluorescent in situ hybridization (FISH) probes in 82 subjects diagnosed with autism and atypical autism. No microdeletions were detected in this group. Similar FISH analyses were undertaken on two children with developmental delay, who were ascertained to be ring 22 during routine cytogenetic investigations. One subject was shown to have a microdeletion in the sub-telomeric region tested. Both children met the social and communication cut off for autism on the ADI and but did not meet the cut off for restrictive and repetitive behaviors. Only one of the two children met the criteria for PDD on the ADOS.
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PMID:An investigation into sub-telomeric deletions of chromosome 22 and pervasive developmental disorders. 1475 53

We present a 6-year-old boy with moderate developmental delay, gait disturbance, autism related disorder and mild dysmorphic features. He was seen for evaluation of his retardation since the age of 2.8 years. At first sight, a cytogenetic analysis showed a normal 46,XY karyotype. Neurological examination at the age of 5.5 years revealed a motor and sensory polyneuropathy. A quantitative Southern blot with probes PMP22 and VAW409 specific for Charcot-Marie-Tooth type 1 (CMT1) disclosed a duplication which confirmed the diagnosis HMSN Ia. Subsequently, GTG banded metaphases were re-evaluated and a small duplication 17p was seen on retrospect. Additional FISH with probe LSISMS (Vysis) specific for the Smith-Magenis region at 17p11.2 again showed a duplication. Both parents had a normal karyotype and the duplication test for CMT1 showed normal results for both of them. The boy had a de novo 46,XY,dup(17)(p11.2p12) karyotype. The present observation confirms previous findings of mild psychomotor delay, neurobehavioural features and minor craniofacial anomalies as the major phenotypic features of dup(17)(p11.2) and dup(17)(p11.2p12); in cases of duplications comprising the PMP22 locus HMSN1 is associated. A recognizable facial phenotype emerges characterized by a broad forehead, hypertelorism, downslant of palpebral fissures, smooth philtrum, thin upper lip and ear anomalies.
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PMID:Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). 1508 3

The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome received an ADOS-G algorithm classification of ASD; the remaining three were outside the autistic spectrum. Ten fulfilled the criteria for autism, and three for PDD-NOS. The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills. The results indicated that Angelman syndrome is better understood in terms of developmental delay, and autism in terms of developmental deviance. It is concluded that autism might have been overdiagnosed due to the extremely low mental age of the children with Angelman syndrome.
Autism 2004 Jun
PMID:Autism in Angelman syndrome: an exploration of comorbidity. 1516 32

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS.
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PMID:Joubert syndrome: review and report of seven new cases. 1527 93


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