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Query: UMLS:C0004352 (autism)
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A body of medically important work has accumulated in the field of developmental neurolinguistics in the 30 years since Lenneberg set forth a research agenda for that field, consisting of the following: (1) the physiologic specialization or endowment for speech; (2) the genetic origin or natural history of vocalization and speech; (3) the nature of prelinguistic behavior, making possible the detection of any environmental (social) influences; (4) the development of motor-speech organization from birth; and (5) the limiting effects of deficient intelligence, hearing, and environmental stimulation. Subsequent study of these questions has established a genetic, neuroanatomic, and functional basis for such outwardly disparate disorders as dyslexia, stuttering, autism, and delayed language. Studies of emergent motor behavior suggest that babbling may index a state of neural maturation favoring expression of spoken languages. Based on studies of the congenitally deaf, mentally retarded, and other clinical populations it is now considered possible to detect early warning signs of developmental language disorders during the first year of life based on analyses of vocal turn-taking, gesturing, and utterance complexity.
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PMID:Thirty years of research on developmental neurolinguistics. 138 11

Ninety-four children (eighty-three boys and eleven girls), who were delayed in verbal expression (expressive language less than two-thirds of the standard for their chronological ages) at the age of three years, were evaluated for school attendance and intelligence at the age of six. The Yamada's Check List for Language Development and Wechsler Preschool and Primary Scale of Intelligence (WPPSI) were used to assess language problems and the intelligence quotient (IQ). Thirty children (32%) were delayed in verbal expression only, and sixty-four (68%) were delayed in both: verbal expression and comprehension were less than two-thirds of the standard for their chronological ages. Of children with delay in verbal expression only, 36% of them had low full-scale IQs (less than 70), and 27% had required special tutoring. Of children with delayed development of verbal expression and comprehension, 85% had low full-scale IQs, and 89% had required special tutoring or had attended schools for mentally retarded children. In expressive and comprehensive language delay, forty-one children avoided personal relations at the age of three years. Later thirty of these children were diagnosed as suffering from infantile autism. Poor mental outcome could be predicted by the delay of expressive and comprehensive language at the age of three years. The high prevalence of developmental disorders at later stages for the children in this study suggests the need for close monitoring of children with delayed language.
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PMID:[A longitudinal study of children with language delay at 3 years of age; later WPPSI and school attendance]. 173 26

Delay in language development may be associated with an underlying anatomical, neurosensory, or psychological disorder such as: deafness, cerebral palsy, cleft palate, autism, or mental retardation. A condition called specific developmental language delay may occur in children devoid of any other identifiable disorder or developmental delay. Language delay associated with early onset, severe-to-profound hearing impairment has been well documented. Controversial studies have also appeared in the communicative disorders' literature suggesting that fluctuating conductive hearing loss in early childhood can significantly affect the development of language and related academic skills. Some authors have claimed that these deleterious effects can be irreversible. This study focuses on 3 groups of preschool children, in whom hearing acuity has been documented: One group with recurrent otitis and language delay; a second group with an equally well documented otitis history but without language delay; and a third group with documented language delay in the absence of any known predisposing conditions, including early-onset, recurrent otitis media. Prenatal, birth and developmental histories of the children in each group were compared in detail to identify any factors which may enhance or ameliorate the effects of fluctuating conductive hearing loss on language development. In a population of 1864 children (ages 9-59 months) referred for otolaryngologic and/or communicative evaluation, 480 otherwise normal children (67.6% males; 32.4% females) were found to have a history of early-onset, recurrent otitis media and/or delayed speech and language development on the basis of an extensive evaluation battery. This population was further subdivided into 3 groups (I = otitis-positive/normal language; II = otitis-positive/language delay; and III = otitis-free/language delay). Among the 329 children with positive histories for early otitis media (Groups I & II), a significantly higher percentage of those demonstrating language delay were from homes in the lower socio-economic category. Race and sex showed no significant relationship to language delay among the otitis-positive groups, although males were twice as numerous as females in the over-all study population. Articulation errors on speech measures and borderline delays in other developmental milestones (standing, walking, and toilet training) were also significantly greater in the language-delayed group when compared with otitis-positive children whose language was age-appropriate.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Medical profile of the language-delayed child: otitis-prone versus otitis-free. 358 81

The behavior of parents, adult caregivers, and peers comprises the critical features of community support for the development of communication in young children with developmental disabilities. In a bio-ecological model of development, communication development is the result of the interactions of individuals with specific characteristics, in particular contexts over time. From the perspective of this model, foundational findings of intervention research to current views of communication development in children with developmental disabilities are summarized. The contributions of individual child characteristics to child-caregiver interactions that support language development are illustrated based on research with children who have autism, Williams syndrome, Down syndrome, and children who use augmentative communication systems. Parent-child interaction and the quality and quantity of parent talk are discussed as factors in children's language development. The effects of young children's delayed language on their interactions with peers, the contributions of peers to children's language learning and use, and the critical features of classroom settings that support child language development are reviewed. MRDD Research Reviews 7:143-150, 2001.
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PMID:Supporting communication in young children with developmental disabilities. 1138 70

In the last decade there has been a significant increase in the proportion of XYY males detected prenatally, mostly as a fortuitous finding. It is of utmost importance to obtain a clear idea of the developmental profile of boys with karyotype 47,XYY and of possible problem areas during further development in order to inform the parents correctly during pregnancy and to provide an adequate surveillance later on. In this study we observed 38 XYY males, of which 12 were diagnosed prenatally. We found that these patients are at considerably increased risk for delayed language--and/or motor development. From birth on, weight, height and head circumference are above average values. The majority attends kindergarten in the normal education circuit although in 50% of the cases psychosocial problems are documented. From primary school age on, there is an increased risk for child psychiatric disorders such as autism. Moreover, although normally intelligent, many of these boys are referred to special education programmes.
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PMID:The XYY syndrome: a follow-up study on 38 boys. 1457 71

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

Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a matching-to-sample test with four types of visual recognition (Object, Face, Affect, and Situation matching) developed by Lucci and Fein. Within-group analyses on 50 boys with MD found decreased Affect matching relative to the other matching conditions. Between-group comparisons on 20 sibling pairs found the boys with Duchenne performed more poorly only on the Affect-matching condition. Thus, mildly impaired facial affect recognition may be part of the phenotype associated with Duchenne or Becker MD.
J Autism Dev Disord 2007 Nov
PMID:Poor facial affect recognition among boys with duchenne muscular dystrophy. 1717 18

Language delay and impairment are salient features of autism. More specifically, there is evidence of atypical semantic organization in autism, but the functional brain correlates are not well understood. The current study used functional MRI to examine activation associated with semantic category decision. Ten high-functioning men with autism spectrum disorder and 10 healthy control subjects matched for gender, handedness, age, and nonverbal IQ were studied. Participants indicated via button press response whether visually presented words belonged to a target category (tools, colors, feelings). The control condition required target letter detection in unpronounceable letter strings. Significant activation for semantic decision in the left inferior frontal gyrus (Brodmann areas 44 and 45) was found in the control group. Corresponding activation in the autism group was more limited, with smaller clusters in left inferior frontal areas 45 and 47. Autistic participants, however, showed significantly greater activation compared to controls in extrastriate visual cortex bilaterally (areas 18 and 19), which correlated with greater number of errors on the semantic task. Our findings suggest an important role of perceptual components (possibly visual imagery) during semantic decision, consistent with previous evidence of atypical lexicosemantic performance in autism. In the context of similar findings from younger typically developing children, our results suggest an immature pattern associated with inefficient processing, presumably due to atypical experiential embedding of word acquisition in autism.
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PMID:Atypical [corrected] participation of visual cortex during word processing in autism: an fMRI study of semantic decision. 1733 46

Autism is characterized by an uneven profile of cognitive abilities and population studies show that approximately 10 percent of diagnosed individuals possess a skill that is significantly better than would be predicted by global IQ. Recent evidence suggests that individuals with autism who possess special skills may represent a distinct genetic group within the autism spectrum. Intellectually high- and low-functioning children and adolescents with autism, together with age- and intelligence-matched comparison participants, completed two experiments that tested pitch discrimination and pitch memory within a visuo-spatial format. The analysis of the data from the studies showed that a subgroup of individuals with autism achieved performance scores that were between four and five standard deviations above the mean for the groups. Unlike comparison participants, their performance appeared to be independent of intelligence, musical training and experience. The findings were interpreted within the context of neuroconstructivist models of typical development and delayed language acquisition characteristic of autism and other neurodevelopmental disorders.
Autism 2008 Mar
PMID:Autism and pitch processing splinter skills: a group and subgroup analysis. 1830 68

Visual motion perception and pursuit eye movement deficits have been reported in autism. However, it is unclear whether these impairments are related to each other or to clinical symptoms of the disorder. High-functioning individuals with autism (41 with and 36 without delayed language acquisition) and 46 control subjects participated in the present study. All three subject groups were matched on chronological age and Full-Scale IQ. The autism group with delayed language acquisition had bilateral impairments on visual motion discrimination tasks, whereas the autism group without delay showed marginal impairments only in the left hemifield. Both autism groups showed difficulty tracking visual targets, but only the autism group without delayed language acquisition showed increased pursuit latencies and a failure to show the typical rightward directional advantage in pursuit. We observed correlations between performance on the visual perception and pursuit tasks in both autism groups. However, pursuit performance was correlated with manual motor skills only in the autism group with delayed language, suggesting that general sensorimotor or motor disturbances are a significant additional factor related to pursuit deficits in this subgroup. These findings suggest that there may be distinct neurocognitive phenotypes in autism associated with patterns of early language development.
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PMID:Patterns of visual sensory and sensorimotor abnormalities in autism vary in relation to history of early language delay. 1895 78


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