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PubMed2003

Social play and autistic spectrum disorders: a perspective on theory, implications and educational approaches.

The article considers the nature of the presumed social play deficit in autistic spectrum disorders (ASDs). The nature of play and its typical development is outlined and discussed in relation to play development in ASDs. It is suggested that social play is a confluence of two strands of development that are affected in autism: social and emotional development, and the cognitive development of play. It is shown that social play develops in a transactional way and in ASDs initial social difficulties prevent the development of social interaction, with its role in eliciting and enriching spontaneous play. At the same time, cognitive and affective difficulties prevent the play of children with autism developing to the extent of attracting other children and being of a complexity from which social play might develop. This cycle of impoverished play opportunities for children with ASDs may be broken through direct teaching and there are encouraging models of teaching social play with some success.

Autistic Disorder↗

PubMed1998

Face recognition and emotion perception in boys with fragile-X syndrome.

Two independent and complementary studies were conducted to assess the ability of boys with fragile-X syndrome to recognize facial and emotional expressions. Both studies failed to find any specific deficits associated with fragile-X syndrome. The performance of the test group was comparable to the level of subjects with intellectual disability and subjects of average cognitive development matched for intellectual ability. This suggests that chronological age and intellectual level are unlikely to explain the findings. The results are discussed in the context of the controversy surrounding the relationship between autism and fragile-X syndrome. The findings are consistent with fragile-X individuals having a profile of social, communicatory and ritualistic disturbances, which in some ways may differ from those found in individuals who have more typical autistic spectrum disorders.

Affect↗

PubMed1999

Can children with autistic spectrum disorders perceive affect in music? An experimental investigation.

BACKGROUND: Children with autistic spectrum disorders typically show impairments in processing affective information within social and interpersonal domains. It has yet to be established whether such difficulties persist in the area of music; a domain which is characteristically rich in emotional content. METHODS: Fourteen children with autism and Asperger syndrome and their age and intelligence matched controls were tested for their ability to identify the affective connotations of melodies in the major or minor musical mode. They were required to match musical fragments with schematic representations of happy and sad faces. RESULTS: The groups did not differ in their ability to ascribe the musical examples to the two affective categories. CONCLUSIONS: In contrast to their performance within social and interpersonal domains, children with autistic disorders showed no deficits in processing affect in musical stimuli.

Adolescent↗

PubMed2004

Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.

Autism, a childhood neuropsychiatric disorder with a strong genetic component, is currently the focus of considerable attention within the field of human genetics as well many other medical-related disciplines. A recent study has implicated two X-chromosomal neuroligin genes, NLGN3 and NLGN4, as having an etiological role in autism, having identified a frameshift mutation in one gene and a substitution mutation in the other, segregating in multiplex autism spectrum families (Jamain et al. [2003: Nat Genet 34:27-29]). The function of neuroligin as a trigger for synapse formation would suggest that such mutations would likely result in some form of pathological manifestation. Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism.

Autistic Disorder↗

PubMed2003

Plasma amino acid levels in children with autism and their families.

Plasma amino acid levels were measured in autistic and Asperger syndrome patients, their siblings, and parents. The results were compared with values from age-matched controls. Patients with autism or Asperger syndrome and their siblings and parents all had raised glutamic acid, phenylalanine, asparagine, tyrosine, alanine, and lysine (p < .05) than controls, with reduced plasma glutamine. Other amino acids were at normal levels. These results show that children with autistic spectrum disorders come from a family background of dysregulated amino acid metabolism and provide further evidence for an underlying biochemical basis for the condition.

Adolescent↗

PubMed2003

Use of complementary and alternative treatments for children with autistic spectrum disorders is increasing.

Interventions considered to be CAM are in constant flux. New treatments emerge, older treatments become less popular, and the cycle recurs. Data supporting new treatments should be scrutinized for scientific study design, clinical safety, and scientific validity. Many families approach the clinician armed with brochures, handouts, and printouts from Web sites that are dedicated to the care and support of parents and children with ASD. A recent web search using "autism and detoxification" resulted in almost 8,000 sites. The Defeat Autism Now! (DAN!) Project arose in 1995 from collaboration of members of the Autism Research Institute. The DAN! Project advocates a specific and extensive protocol for diagnosis and treatment and can be viewed at http://www.autism.com/ari/#dan. The scientific validation and support for many interventions is incomplete and disparate from the recommendation in the American Academy of Pediatrics Policy Statement. Families should be encouraged to discuss all proposed investigations or treatments they wish to try with their primary care provider so the practitioner can serve as the medical home (Sidebar, page 688). The clinician should communicate and collaborate with the family and educational professionals to encourage objective identification of what works. With increasing access to health information and societal pressure for families to actively participate in their health management, continued growth of interest in CAM can be anticipated. Clinicians must remember that parents may have different beliefs regarding the effectiveness of treatment and different tolerance for treatment risks. Practitioners must keep avenues of communication open, remain open-minded, and not assume a "don't ask, don't tell" posture in the context of providing a medical home to the increasing number of children diagnosed with autism.

Autistic Disorder↗

PubMed1991

Brainstem auditory evoked potential study in children with autistic disorder.

Brainstem auditory evoked potentials were compared in 109 children with infantile autism, 38 with autistic condition, 19 with mental retardation, and 20 normal children. Children with infantile autism or autistic condition had significantly longer brainstem transmission time than normal (p less than .001). Autistic features, rather than age, sex, or lower mentality, correlated with brainstem transmission time (p less than .0001). The autistic characteristics may be related to dysfunction of the brainstem which affects the processing of the sensory input through the auditory pathway. The brainstem lesion may be part of a generalized process of neurological damage that accounts for the deviant language, cognitive, and social development in the spectrum of autistic disorder.

Autistic Disorder↗

PubMed2004

Brief report: assessment of sensory abnormalities in people with autistic spectrum disorders.

Sensory functioning has long been considered crucial in the life of people with autistic spectrum disorders (ASD) (Gillberg, C., & Coleman, M. (1992). The Biology of Autistic Syndromes (2nd ed.). London: Mac Keith press.) However, much of the research is methodologically flawed and based on child populations and adults' retrospective accounts (O'Neill, M.C 1995). Sensory-perceptual abnormalities in autism. Psychological Perspectives in Autism-Conference Proceedings 1995 (pp. 55-61). Autism Research Unit, University of Sundarland). Such sensory dysfunction may contribute to poor person/environment fit and subsequent challenging behaviour. This paper presents an assessment tool developed to explore the sensory functioning of adults with ASD.

Adult↗

PubMed2003

Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised.

Studies of the broader autism phenotype, and of subtle changes in autism symptoms over time, have been compromised by a lack of established quantitative assessment tools. The Social Responsiveness Scale (SRS-formerly known as the Social Reciprocity Scale) is a new instrument that can be completed by parents and/or teachers in 15-20 minutes. We compared the SRS with the Autism Diagnostic Interview-Revised (ADI-R) in 61 child psychiatric patients. Correlations between SRS scores and ADI-R algorithm scores for DSM-IV criterion sets were on the order of 0.7. SRS scores were unrelated to I.Q. and exhibited inter-rater reliability on the order of 0.8. The SRS is a valid quantitative measure of autistic traits, feasible for use in clinical settings and for large-scale research studies of autism spectrum conditions.

Asperger Syndrome↗

PubMed1998

Delayed language onset as a predictor of clinical symptoms in pervasive developmental disorders.

DSM-IV states that Asperger Disorder may be distinguished from Autistic Disorder by a lack of a delay in early language development. The aim of this study was to establish whether the presence or absence of early language delay would predict autistic symptomatology in children diagnosed with a PDD/autism spectrum disorder. Forty-six language-delayed and 62 normal language onset individuals (M age 11 years) were compared on ICD-10 research criteria and DSM-IV criteria, receptive language, and developmental history variables. Retrospective data were also obtained to determine whether language onset predicted autism symptomatology when young (< 6 years). We found that early language delay predicts more autistic symptomatology when young, but not at an older age. Early language delay is also associated with developmental motor milestone delays and lower receptive language abilities. The results question the use of early language delay as a valid discriminating variable between PDD subgroups.

Adolescent↗

PubMedDate not supplied

Narrative skills of children with communication impairments.

BACKGROUND: Narrative assessment is sensitive to the communication impairments of children with specific language impairment and those with autistic spectrum disorders. Although both groups of children tend to show deficits in narrative, it is unclear whether these deficits are qualitatively different and how language and pragmatic ability may impact on narrative competence. Comparing these two groups of children with children who exhibit pragmatic language impairment without autism may help to clarify these issues. AIMS: This study explored the relationship between structural language ability and pragmatic competence in narrative in children with communication impairments and typically developing children. METHODS AND PROCEDURES: Diagnostic status was determined using the Children's Communication Checklist. All children were asked to generate a narrative to the wordless picture book Frog, Where are You? (Mayer 1969). Narratives were analysed according to their global structure, local linguistic structure and the child's ability to provide evaluative comments, especially about mental or emotional states. OUTCOMES AND RESULTS: No group differences were seen in global structure or evaluation. Children with specific language impairment and autistic disorder made more syntactic errors, and children with autism were significantly more likely to provide ambiguous references in the story. No significant relationships were evident between the Children's Communication Checklist and narrative measures. The complexity of language used was related to evaluation in the clinical groups. CONCLUSIONS: Narrative is a good way of assessing linguistic ability in older children with communication impairments. Core language abilities rather than pragmatic skill or diagnostic status are likely to influence narrative development.

Autistic Disorder↗

PubMed2000

Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome.

We report a child who developed autoimmune lymphoproliferative syndrome (ALPS) secondary to a heterozygous dominant negative mutation in the death domain of the Fas receptor. Previously developmentally normal, he had symptoms of autism with rapid regression in developmental milestones coincident with the onset of lymphoproliferation and autoimmune hemolytic anemia. Low-dose steroid therapy induced early and complete remission in the ALPS phenotype. There was subjective improvement, followed by objective improvement in speech and developmental milestones. We propose that autism may be part of the autoimmune disease spectrum of ALPS in this child, and this case represents a novel manifestation and target organ involvement in this disease.

Apoptosis↗

PubMed1999

Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders.

OBJECTIVE: Etiologically unexplained disorders of language and social development have often been reported to improve in patients treated with immune-modulating regimens. Here we determined the frequency of autoantibodies to brain among such children. DESIGN: We collected sera from a cohort of children with (1) pure Landau-Kleffner syndrome (n = 2), (2) Landau-Kleffner syndrome variant (LKSV, n = 11), and (3) autistic spectrum disorder (ASD, n = 11). None had received immune-modulating treatment before the serum sample was obtained. Control sera (n = 71) were from 29 healthy children, 22 with non-neurologic illnesses (NNIs), and 20 children with other neurologic disorders (ONDs). We identified brain autoantibodies by immunostaining of human temporal cortex and antinuclear autoantibodies using commercially available kits. RESULTS: IgG anti-brain autoantibodies were present in 45% of sera from children with LKSV, 27% with ASD, and 10% with ONDs compared with 2% from healthy children and control children with NNIs. IgM autoantibodies were present in 36% of sera from children with ASD, 9% with LKSV, and 15% with ONDs compared with 0% of control sera. Labeling studies identified one antigenic target to be endothelial cells. Antinuclear antibodies with titers >/=1:80 were more common in children with ASD and control children with ONDs. CONCLUSION: Children with LKSV and ASD have a greater frequency of serum antibodies to brain endothelial cells and to nuclei than children with NNIs or healthy children. The presence of these antibodies raises the possibility that autoimmunity plays a role in the pathogenesis of language and social developmental abnormalities in a subset of children with these disorders.

Antibodies, Antinuclear↗

PubMed1996

Social cognition in developmental language disorders and high-level autism.

Two groups of children with contrasting types of developmental language disorder (phonologic-syntactic and semantic-pragmatic) were compared with a group of children with high-level autism and with a control group of normal children on tests of social cognition (theory of mind; social comprehension; and detection of eye direction). The similarly poor performances of the semantic-pragmatic group and the autistic group suggest that semantic-pragmatic language disorder lies on the autistic spectrum.

Analysis of Variance↗

PubMed2005

Brain-derived neurotrophic factor and autoantibodies to neural antigens in sera of children with autistic spectrum disorders, Landau-Kleffner syndrome, and epilepsy.

BACKGROUND: Brain derived neurotrophic factor (BDNF) elevation in newborn sera predicts intellectual/social developmental abnormalities. Other autoantibodies (AAs) to endothelial cells (ECs) and myelin basic protein (MBP) are also elevated in some children. We tested relationships between BDNF, BDNF AAs, and other AAs in children with these disorders. METHODS: BDNF levels and IgG/IgM autoantibodies to BDNF, ECs, MBP, and histones were measured in children with autism, childhood disintegrative disorder (CDD), pervasive developmental delay-not otherwise specified (PDD-nos), acquired epilepsy, Landau-Kleffner syndrome (LKS); healthy children (HC), and children with non-neurological illnesses (NNI). RESULTS: Mean BDNF levels were elevated in children with autism and CDD, (p < or = 0.0002) compared to HC or NNI. Mean IgG and IgM BDNF AAs were elevated in children with autism, CDD and epilepsy (p < or = 0.0005) compared to HC but not to NNI. Mean IgM AA EC titers detected by immunocytochemistry were higher in autism, PDD-NOS, epilepsy, and LKS (p < or = 0.005) compared to HC and NNI. While mean ELISA IgG EC AAs were higher in autism and PPD-NOS (p < 0.005) compared to HC but not NNI, ELISA IgM EC AAs were higher in children with autism, CDD, PDD-NOS, and epilepsy compared to both HC and NNI (p < 0.0005). Mean anti-MBP IgG and IgM titers were higher in all study groups (p < 0.005) except for LKS compared to both HC and NNI. CONCLUSION: Children with developmental disorders and epilepsy have higher AAs to several neural antigens compared to controls. The presence of both BDNF AAs and elevated BDNF levels in some children with autism and CDD suggests a previously unrecognized interaction between the immune system and BDNF.

Antibodies, Antinuclear↗

PubMed2005

Savant talent.

The notion of talent is an elusive concept but there appears to be sound evidence that both savants and experts share important qualities. Brief descriptive accounts of the talents displayed by savants are presented, along with a discussion of intelligence, implicit learning, and the organization of knowledge. Cognitive theories helpful in understanding exceptional abilities in people with autism are also discussed. It is concluded that a certain cognitive style, i.e. weak coherence, may predispose individuals to develop their talents. Although it would be interesting to speculate that some great artists and mathematicians show a similar degree of obsessive preoccupation and a cognitive style reminiscent of autistic spectrum disorder, presumably as a strategic mechanism, there is, as yet, little research on the subject.

Aptitude↗

PubMed2026

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well as additional multisystemic findings. Intrauterine growth restriction (IUGR) and feeding difficulties were common in the neonatal period. It is notable that nearly all females had de novo variants, and males had de novo or inherited variants from clinically unaffected carrier mothers. Three genetic hotspots were identified in evolutionarily conserved regions of HUWE1 that have clinical impact. This report provides additional characterization of the spectrum of HUWE1-related neurodevelopmental disorder (HNDD).

Humans↗

PubMed2004

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.

The neuroligins are a family of postsynaptic transmembrane proteins that associate with presynaptic partners, the beta-neurexins. Neurexins and neuroligins play a critical role in initiating formation and differentiation of synaptic junctions. A recent study reported that a mutation of neuroligin-3 (NL3), an X-linked gene, was found in siblings with autistic spectrum disorder in which two affected brothers had a point mutation that substituted a Cys for Arg451. To characterize the mutation at the biochemical level, we analyzed expression and activity of the mutated protein. Mass spectrometry comparison of the disulfide bonding pattern between the native and the mutated proteins indicates the absence of aberrant disulfide bonding, suggesting that the secondary structure of the mutated protein is conserved. However, the mutation separately affects protein expression and activity. The Cys mutation causes defective neuroligin trafficking, leading to retention of the protein in the endoplasmic reticulum. This, in turn, decreases the delivery of NL3 to the cell surface. Also, the small fraction of protein that reaches the cell membrane lacks or has markedly diminished beta-neurexin-1 (NX1beta) binding activity. Other substitutions for Arg451 allow for normal cellular expression but diminished affinity for NX1beta. Our findings reveal a cellular phenotype and loss of function for a congenital mutation associated with autistic spectrum disorders.

Amino Acid Substitution↗