Language,social, and cognitive impairments in autism and severe mental retardation

An epidemiological study is outlined that shows that Kanner's syndrome is one group among a wider range of children, all with impairment of social interaction, communication, and imagination. Most, but not all, children with this triad of impairments are severely mentally retarded, although severe retardation also occurs in those who are sociable and communicative. It is hypothesized that the socially impaired lack certain abilities that are inborn in normal children and the sociable mentally retarded: namely, the capacity to produce and monitor the normal speciesspecific preverbal sounds, the drive to explore the environment and form concepts to explain experiences, and the ability to recognize that other human beings are of special interest and importance. A possible neurological basis for these problems is briefly considered.     

Features of autism in Rett syndrome and severe mental retardation

It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct (except perhaps in a few cases). Despite this, further delineation of the phenotypic overlap between RS and autism is warranted to enhance clinical decision-making and to further understanding of neuropathological development in both disorders. The present study measured autistic symptoms using the Autism Behavior Checklist (ABC) in a sample of girls with RS and a comparison group of girls with severe and profound mental retardation (SMR). Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales. In contrast, there were no group differences on the Body and Object use, Language and Social and Self-help subscales. Further work on the characterisation of the behavioral phenotype of genetic disorders such as RS and autism may aid in identifying the neuropathogenic processes that lead from gene-to-brain-to-behavior.     

Responses and sustained interactions in children with mental retardation and autism

Sustained interactions and responses to social bids made by children with autism and verbal-age–matched children with mental retardation were recorded in two naturalistic settings. Children with autism produced fewer positive responses and more no responses than children with mental retardation; both groups were more likely to make positive responses to adults and not to respond to other children. Furthermore, although the frequency of conversations was not different for the two groups, children with autism were significantly less likely to engage in sustained play compared to children with mental retardation. Results suggest that children with autism are able to master the more rote and need-oriented social skills, such as simple conversation, but may not develop other forms of social interactions, like play.     

阿立哌唑治疗儿童孤独症与精神发育迟滞临床观察

目的:观察阿立哌唑治疗儿童孤独症和精神发育迟滞的多动及冲动等行为障碍的疗效及不良反应。方法:对48例儿童孤独症和精神发育迟滞,给予阿立哌唑治疗。疗程4周。在治疗前及治疗2、4周对其进行Conners父母量表评定,并观察不良反应。结果:治疗2周,品行问题、学习问题、心身障碍、冲动-多动、焦虑、多动等症状即有显著改善(P<0.001)。治疗4周改善更明显。不良反应少。结论:阿立哌唑能有效治疗精神发育迟滞和儿童孤独症的冲动及多动行为,不良反应少。     

Serum neurotrophin concentrations in autism and mental retardation: a pilot study

To evaluate the availability of the serum neurotrophins for the diagnosis of the patients with neurodevelopmental disorder, we measured the serum concentration of brain-derived neurotrophic factor (BDNF) and neurotrophin-4 (NT-4) in the patients diagnosed with autism (n=18) and mental retardation (n=20), or healthy controls (n=16), using enzyme-linked immunosorbent assay. There tended to be a higher concentration of serum BDNF found in the autistic group ( P <0.05 by analysis of variance (ANOVA)) and the mental retardation group ( P <0.001 by ANOVA) compared to the control group. Serum NT-4 concentration tended to be increased in the mental retardation group (P <0.05 by ANOVA). We conclude that measuring the serum concentration of two neurotrophins, BDNF and NT-4, might be helpful to diagnose or classify disorders such as autism or mental retardation.     

Differences in adaptive functioning among people with autism or mental retardation

This report describes differences in motoric and instrumental activity of daily living skills (MADLs and IADLs) between 1,442 people with autism and 24,048 people with mental retardation, using data from an adaptive behavior measure. Comparisons were made using groups defined by age (5–12, 13–21, and 21–35 years) and intellectual level. Diagnoses of record were confirmed through group analyses of rates of problem behaviors consistent with autism and comparison to an independent data base. Findings suggest that at ages 5–12 the skills of children with autism are more developed than those of children with mental retardation matched by age and intellectual level. However, in the older groups these differences diminish, and with increasing age (21–35 years) more developed instrumental skills are observed for people with mental retardation.     

Relationships between facial discrimination and social adjustment in mental retardation

Sixty-two adults with mental retardation of heterogeneous etiology performed four facial emotion discrimination tasks and two facial nonemotion tasks. Staff members familiar with the participants completed measures of social adjustment (the Socialization and Communication domains of the Vineland Adaptive Behavior Scales and the Social Performance Survey Schedule). All facial discrimination tasks had very good reliability (internal consistency), but only some of the tasks correlated with measures of social adjustment. Furthermore, no evidence was found that emotion tasks and nonemotion tasks assessed different social constructs. Emotion tasks in which participants were presented with visual emotion stimuli correlated significantly with prosocial behavior, whereas those with verbal emotion stimuli did not.     

White matter reduced streamline coherence in young men with autism and mental retardation

Background and purpose:  It has been proposed that white matter alterations might play a role in autistic disorders; however, published data are mainly limited to high-functioning autism. The goal of this study was to apply diffusion tensor imaging (DTI) and fiber tractography (FT) to study white matter in low-functioning autism and the relationship between white matter and cognitive impairment.
Methods:  Ten low-functioning males with autism (mean age: 19.7 ± 2.83 years) and 10 age-matched healthy males (mean age: 19.9 ± 2.64 years) underwent DTI-MRI scanning. fractional anisotropy (FA) maps were analyzed with whole brain voxel-wise and tract-of-interest statistics. Using FT algorithms, white matter tracts connecting the orbitofrontal cortex (OFC) with other brain regions were identified and compared between the two groups. FA mean values of the autistic group were correlated with intelligence quotient (IQ) scores.
Results:  Low-functioning autistic subjects showed a reduced tract volume and lower mean FA values in the left OFC network compared with controls. In the autistic group, lower FA values were associated with lower IQ scores.
Conclusions:  We showed evidence of OFC white matter network abnormalities in low-functioning autistic individuals. Our results point to a relationship between the severity of the intellectual impairment and the extent of white matter alterations.     

Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation

There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. In 99% of children with autism and 97% with mental retardation, levels of at least one of these substances exceeded those of all control children. Concentrations were similar in subgroups of the autistic spectrum (core syndrome with or without mental retardation, other autistic spectrum disorders with or without mental retardation) and in the presence or absence of a history of regression. Among children with mental retardation, concentrations did not differ by severity or known cause (n = 11, including 4 with Down syndrome). Concentrations of measured substances were similar in children with CP as compared with control subjects. SP, PACAP, NGF, and NT3 were not different by diagnostic group. No measured analyte distinguished children with autism from children with mental retardation alone. In autism and in a heterogeneous group of disorders of cognitive function, overexpression of certain neuropeptides and neurotrophins was observed in peripheral blood drawn in the first days of life.     

Differentiating the behavioural profile in autism and mental retardation and testing of a screener

Abstract. In order to differentiate the behavioural profiles in autism and mental retardation and to cross-validate a behavioural autism screen, 84 subjects with autism (64 males and 20 females) with a mean age of 10 years selected from a Swiss national survey were compared to a control group of 84 subjects matched by age and gender with mental retardation, but without autistic features. The behavioural profile was assessed using the Developmental Behaviour Checklist (DBC). The behavioural profile in autism, in contrast to mental retardation, was marked by higher scores in the domains of disruptive, self-absorbed, communication disturbed, anxious and autistic behaviour, and a higher total DBC score. Furthermore, a higher vulnerability for behavioural abnormalities became evident for females with autism. A recently proposed DBC-Autism Screen was cross-validated, and a slight extension of the screen led to even higher correct classification rates. It was concluded that the DBC is a suitable instrument for the assessment of the behavioural profile and for screening in autism.     

Parent-child predictors of social competence with peers in children with and without autism

The current study investigated the relations among parent-child joint engagement, dyadic interactive behaviors, and children's subsequent social competence with peers. Participants were 40 children (20 children with autism, and 20 developmentally-matched typical children) between the ages of 2.75 and 6.5 years. Observational coding was conducted to assess children's joint engagement initiations, global interactive behaviors with parents, and parents’ responsiveness, behavior regulation, and attention regulation. Children's social competence with peers was measured approximately one year later. Group differences were observed in child-initiated joint engagement, children's interactive behaviors in the parent-child context, and individual aspects of social competence. Child-initiated joint engagement with parents was positively related to social competence with peers overall, and with less exclusion by peers and hyperactive-distractible behaviors with peers, in particular. In addition, parent attention regulation emerged as the most salient predictor of children's behaviors within the parent-child context. Findings are discussed with respect to implications for future research and intervention.     

Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism

Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.