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PubMed2002

[Genetic study of 20 patients with autism disorders].

BACKGROUND: Many observations indicate that genetic factors play an important role in the aetiology of autism. Up to now, however, no genetic markers have been convincingly identified which influence the predisposition to this disorder. Complex genetic analysis of autistic patients and their families may therefore lead to the identification of features which could help to direct further search for the predisposing genes. METHODS AND RESULTS: We have analysed a sample of 20 patients with autism spectrum disorders. The patients have been subjected to clinical genetic examination, cytogenetic analysis and DNA analysis of the FMR1 gene. In the sample studied we have observed more boys (15/20), various degree of mental retardation (18/20), high frequency of complications during pregnancy (10/20) and delivery (10/20), increased incidence of psychiatric disorders, behavioural abnormalities and suicides among the relatives, and increased head circumference and unusually formed ears in the probands. Three patients had different chromosomal aberrations or variants (t(21;22), inv(9) and inv(10)). One patient harboured expansion of the trinucleotide repeat sequence in the FMR1 gene on the full mutation level which is characteristic for the fragile X syndrome, and one patient is suspected to suffer from the Rett syndrome. CONCLUSIONS: Our observations confirm and extend the results reported in the literature. Most interesting are mainly the macrocephaly which may be associated with the recently described increased neonatal levels of neural growth factors in autistic individuals, ear malformations which may indicate aberrations in the HOXA1 gene pathway, the occurrence of chromosomal inversions recurrent in autism, and peculiarities in the pedigrees of the patients.

Adolescent↗

PubMed2003

Disentangling weak coherence and executive dysfunction: planning drawing in autism and attention-deficit/hyperactivity disorder.

A tendency to focus on details at the expense of configural information, 'weak coherence', has been proposed as a cognitive style in autism. In the present study we tested whether weak coherence might be the result of executive dysfunction, by testing clinical groups known to show deficits on tests of executive control. Boys with autism spectrum disorders (ASD) were compared with age- and intelligence quotient (IQ)-matched boys with attention-deficit/hyperactivity disorder (ADHD), and typically developing (TD) boys, on a drawing task requiring planning for the inclusion of a new element. Weak coherence was measured through analysis of drawing style. In line with the predictions made, the ASD group was more detail-focused in their drawings than were either ADHD or TD boys. The ASD and ADHD groups both showed planning impairments, which were more severe in the former group. Poor planning did not, however, predict detail-focus, and scores on the two aspects of the task were unrelated in the clinical groups. These findings indicate that weak coherence may indeed be a cognitive style specific to autism and unrelated to cognitive deficits in frontal functions.

Attention↗

PubMed2003

The effect of choice-making opportunities during activity schedules on task engagement of adults with autism.

Increasing choice and participation by adults with autism spectrum disorders is an important, but neglected, aspect of research and services. This study evaluated the effects of choice-making opportunities, embedded within activity schedules, and contingent praise on the engagement of three adults with autism in a community vocational setting. In the baseline condition, staff assigned the order of the tasks. In the Choice condition and Maintenance phases, the participants chose the order of tasks that supervisors assigned to them. They made their own activity schedules by writing down the order of their tasks for that morning. Social praise was provided contingent on the participant's task completion. The same tasks were used in baseline, intervention, and maintenance phases. During the Choice and Maintenance conditions, client engagement was substantially higher than baseline for all three participants. Increasing choice-making opportunities within activity schedules was an effective and socially acceptable way to increase choice and engagement in adults with autism.

Activities of Daily Living↗

PubMed2004

Prominence of M50 auditory evoked response over M100 in childhood and autism.

This study investigated the 50 ms (M50) and 100 ms (M100) components of the auditory evoked field to explore their change during development. Using MEG, neuromagnetic fields elicited by a 1 kHz sinusoidal tone were recorded in adults and two groups of children and adolescents with typical development or autism spectrum disorder. M50 amplitude was larger in children than in adults, suggesting a developmental trajectory with M50 amplitude decreasing and M100 increasing with age. Child M50 and M100 latencies were prolonged relative to adults. Children with autism did not differ from control children with respect to these observations. The M50 in relation to the M100 is a robust index of early auditory system maturation suitable for future developmental investigations.

Acoustic Stimulation↗

PubMed2005

Communication software using pictures for use with Pocket PCs.

Autism spectrum disorder has become one of the most prevalent developmental disorders. A difficulty with communication is one of the main impairments. We are developing a digital library of images that will be used to help children with autism communicate without the need for reading or writing skills. Images will be displayed on Pocket PCs to convey messages. We are currently developing and evaluating the first prototype.

Audiovisual Aids↗

PubMed2005

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

Autism is a highly heritable neurodevelopmental syndrome with a complex genetic etiology for which no disease genes have yet been definitively identified. We ascertained three subjects with autism spectrum disorders and chromosome 2q37.3 terminal deletions, and refined the deletion breakpoint regions using polymorphism mapping and fluorescence in situ hybridization (FISH) probes. We then genotyped polymorphic markers downstream from the breakpoint region in a sample of autism affected sibling pair families. Both the chromosomal breakpoints and linkage analyses focused our attention on the gene centaurin gamma-2 (CENTG2), an attractive candidate gene based also on its function and pattern of expression. We therefore assessed CENTG2 for its involvement in autism by (1) screening its exons for variants in 199 autistic and 160 non-autistic individuals, and (2) genotyping and assessing intra-genic polymorphisms for linkage and linkage disequilibrium (LD). The exon screen revealed a Ser --> Gly substitution in one proband, an Arg --> Gly substitution in another, and a number of additional variants unique to the autism families. No unique variants were found in the control subjects. The genotyping produced strong evidence for linkage from two intronic polymorphisms, with a maximum two-point HLOD value of 3.96 and a posterior probability of linkage (PPL) of 51%. These results were contradicted, however, by substantially weaker evidence for linkage from multi-point analyses and by no evidence of LD. We conclude, therefore, that 2q37.3 continues to be a region of interest for autism susceptibility, and that CENTG2 is an intriguing candidate gene that merits further scrutiny for its role in autism.

ADP-Ribosylation Factors↗

PubMed2007

Brief report: effect of maternal age on severity of autism.

The etiology of autism is complex, consisting of unknown genetic and environmental factors. Previous studies have revealed that maternal age is increased in autism compared to controls, making it a possible risk factor. This study examined the effects of maternal age on autism severity using IQ as a measure of cognitive severity and selected subtests of the Child Behavior Checklist (CBCL) as measures of social severity. A sample of 154 subjects with autism spectrum disorders was obtained from the Stanford Neuropsychiatry/Pervasive Developmental Disorder (PDD) clinic. Results indicate that there is no relationship between IQ or selected CBCL subtests and maternal age, suggesting that maternal age does not influence the severity of autism as measured by these indicators.

Autistic Disorder↗

PubMed2000

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.

The Autism Diagnostic Observation Schedule-Generic (ADOS-G) is a semistructured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorders. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language. Psychometric data are presented for 223 children and adults with Autistic Disorder (autism), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or nonspectrum diagnoses. Within each module, diagnostic groups were equivalent on expressive language level. Results indicate substantial interrater and test-retest reliability for individual items, excellent interrater reliability within domains and excellent internal consistency. Comparisons of means indicated consistent differentiation of autism and PDDNOS from nonspectrum individuals, with some, but less consistent, differentiation of autism from PDDNOS. A priori operationalization of DSM-IV/ICD-10 criteria, factor analyses, and ROC curves were used to generate diagnostic algorithms with thresholds set for autism and broader autism spectrum/PDD. Algorithm sensitivities and specificities for autism and PDDNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS.

Autistic Disorder↗

PubMed2006

Abnormal social behaviors in young and adult rats neonatally infected with Borna disease virus.

Autism spectrum disorders (ASD) have been the focus of a great deal of research and clinical speculation. This intense interest relates to both the perplexing pathogenesis and devastating consequences of these disorders. One of the obstacles to understanding the pathogenesis of autism and to developing efficient treatment has been the paucity of animal models that could be used for hypotheses-driven mechanistic studies of abnormal brain and behavior development and for the pre-clinical testing novel pharmacological treatments. In this report, we briefly review our animal model of ASD based on neonatal Borna disease virus (BDV) infection and present new data about abnormal social interaction in adult BDV-infected rats. We found that neonatal BDV infection profoundly affected social behaviors in adult rats. Compared to the control rats, both 90- and 180-day-old infected rats spent less time in active social interaction and more time in following their partners. In the intruder-resident test, the BDV-infected resident rats exhibited less aggression towards the intruders and showed more the following-the-intruder behavior. The following-the-partner behavior may be an example of "stereotypic" activity due to BDV-induced abnormal social communication between rats. The previously published results and present findings indicate that neonatal BDV infection significantly altered the normal pattern of social interaction in rats. Co-localization of activated microglia and dying Purkinje cells in BDV-infected rats suggests that the BDV model could be used to study a pathogenic link of Purkinje cell dropout and neuroinflammation to abnormal social behaviors.

Age Factors↗

PubMed2025

Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epilepsy.

PURPOSE: Approximately 6% of individuals with neurodevelopmental disorders are predicted to be X-linked, and the GSPT2 gene, located at Xp11.22, has not yet been associated with any Mendelian disease. METHODS: To establish genotype-phenotype associations between GSPT2 and neurodevelopmental disorders, clinical investigations were performed in unrelated individuals, genomic and functional studies were conducted on the participants' blood and heterologous cell system. RESULTS: We described 6 individuals from 6 unrelated families carrying hemizygous variants in GSPT2 with intellectual disability, delayed speech and language development, autism spectrum disorder, epilepsy, or abnormal fetal neurodevelopment. Structural molecular modeling revealed significant deleterious effects of the identified variants. GSPT2 is preferentially enriched in the brain and cerebellum compared with other tissues. GSPT2-deficient H4 neuroglioma cells slow down the proliferation and downregulate the expression of cell-cycle-related genes. Transcriptomics revealed that GABAergic and calcium-signaling-related genes were significantly downregulated in GSPT2-deficient cells. Consistent with the transcriptomic data, RT-PCR analysis verified the marked downregulation of critical genes (CACNA1B, etc) in GSPT2-knockout cells and further confirmed these findings with proteomic profiling. CONCLUSION: Our data suggest a putative GSPT2-related X-linked neurodevelopmental disorders through dysregulation of cell-cycle progression and calcium/GABAergic signaling pathways.

Humans↗

PubMed2003

Weak central coherence, poor joint attention, and low verbal ability: independent deficits in early autism.

C. Jarrold, W. Butler, E. M. Cottington, and F. Jiminez (2000) proposed that weak central coherence is a primary cognitive deficit in autism and speculated that it may even account for theory of mind impairments. The current study investigated whether weak central coherence could account for deficits in 2 behaviors purported to tap capabilities fundamental to a theory of mind: joint attention and pretend play. Twenty-one children (ages 3-5 years) with autism spectrum disorders were matched to 21 control children on chronological age, nonverbal ability, and gender. Pretend play did not differentiate the groups. Weak central coherence, poor joint attention, and low verbal ability contributed significantly and independently to the prediction of autism group membership, a finding consistent with 3 independent cognitive deficits underlying autism.

Aptitude↗

PubMed2003

Plasma amino acids profiles in children with autism: potential risk of nutritional deficiencies.

The plasma amino acid profiles of 36 children with autism spectrum disorders were reviewed to determine the impact of diet on amino acid patterns. Ten of the children were on gluten and casein restricted diets administered by parents, while the other 26 consumed unrestricted diets. No amino acid profile specific to autism was identified. However, children with autism had more essential amino acid deficiencies consistent with poor protein nutrition than an age/gender matched control group. There was a trend for children with autism who were on restricted diets to have an increased prevalence of essential amino acid deficiencies and lower plasma levels of essential acids including the neurotransmitter precursors tyrosine and tryptophan than both controls and children with autism on unrestricted diets. These data indicate that larger, more focused studies of protein nutrition in children with autism are needed in order to determine the extent to which restricted diets might place the developing brains of children with autism at risk from protein malnutrition. The high rate of tryptophan and tyrosine deficiency in this group is also of concern given their role as neurotransmitter precursors.

Amino Acids↗

PubMed2006

Early identification of autism: how early can we go?

Identification of young children at risk for Autism Spectrum Disorders (ASD) depends on early behavioral symptomatology and yet conventional criteria provide little guidance for use with infants and toddlers. Recent research, however, has demonstrated that there are patterns of behavior below 2 years of age that distinguish children with autism from those who are developing typically or those with other developmental disabilities. Skill areas with particular promise for early identification include social communication, sensory regulation, and play. This article previews current innovative methodologies, presents a synthesis of recent research findings related to these three key areas, and provides clinicians with practical guidelines for early identification of infants and toddlers at risk for ASD and other disorders.

Age Factors↗

PubMed2006

Parental beliefs about autism: implications for the treating physician.

This study investigated parental beliefs about the etiology, diagnosis, and treatment of autism spectrum disorders. Sixty-two families of affected children completed a questionnaire asking when the parent first noticed developmental or behavioral problems, when they were told the diagnosis, how confident they were about the ability of their child's physician to recognize autism, whether they believed anything specific might have caused their child's autism, and what medications and complementary or alternative therapies they had tried. Two-thirds of parents suspected a specific cause, and three-quarters questioned their physician's ability. Parents who perceived a greater delay in diagnosis or who had tried more different therapies both tended to have less confidence in their physician (p = 0.20 and p = 0.07, respectively). Physicians should inquire about parental beliefs concerning etiology, learn what treatments the children are receiving, perform screening at the 18 month visit, and make referrals for further evaluation as soon as a child begins to exhibit signs suggestive of autism.

Adolescent↗

PubMedDate not supplied

[What can we expect of Collaborative Review Groups of Cochrane Collaboration in neuropaediatrics?].

INTRODUCTION: Cochrane Collaboration (CC) contains detailed, critical and up-to-date systematic reviews (SR) of the best scientific evidence available. AIM: To analyse the bibliometric characteristics of the SR related to paediatric neurology published in the 50 Collaborative Review Groups (CRG) of the CC. MATERIALS AND METHODS: Bibliometric analysis of the Database of Systematic Reviews in Cochrane Library, Issue 2, 2005 (n = 2.231 SR). The variables recorded were: number of SR and protocols in any CRG, authors and clusters of secondary research, dates (late review and update), type of study, critical review of the SR and conclusions. RESULTS: Nine published SR about neuropaediatrics: the Epilepsy Group (24 SR), the Neuromuscular Disease Group (16), the Neonatal Group (16), the Developmental, Psychosocial and Learning Problems Group (10), the Pain, Palliative Care and Supportive Care Group (4), the Movement Disorders Group (3), the Injuries Group (3), the Infectious Disease Group (3) and the Acute Respiratory Infections Group (2). The three main thematic areas were treatment of epilepsy (pharmacologic and non-pharmacologic), neonatal neurology (mainly intraventricular haemorrhage and perinatal asphyxia) and miscellanea (autism spectrum disorder, headache, cerebral palsy, myasthenia gravis, Guillain-Barre syndrome, Bell's palsy and bacterial meningitis). All the SR were about treatment interventions. CONCLUSIONS: Paediatric neurology SR are infrequent (3.6% of the 2.231 SR published in CC), and helps an evidence-based decision-making in a few areas: pharmacologic treatment of epilepsy, management of intraventricular haemorrhage of preterm infants and bacterial meningitis. Many therapies in paediatric neurology persist with no supporting evidence, and we detected no SR about important neurological issues in childhood as attention-deficit hyperactivity disorder, mental retardation and hypotonia.

Bibliometrics↗

PubMed2001

A genomewide screen for autism susceptibility loci.

We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.

Asperger Syndrome↗

PubMed2005

An evaluation of the Gilliam Autism Rating Scale.

The Gilliam Autism Rating Scale was developed to identify individuals with autism in research and clinical settings. It has benefited from wide use and acceptance but has received little empirical attention. The purpose of this study was to evaluate the construct and diagnostic validity, interrater reliability, and effects of participant characteristics of the GARS in a large and heterogeneous sample of children and adolescents with autism spectrum disorders. 360 parent and teacher ratings were submitted to factor analysis. A three-factor solution explaining 38% of the variance was obtained. Almost half of all items loaded on a Repetitive and Stereotyped Behavior factor. The Developmental Disturbance subscale did not contribute to the Autism Quotient (AQ) and was poorly related to other subscales. Internal consistency for the three behavioral subscales was good but low for the Developmental Disturbance subscale. The average AQ was significantly lower than what was reported in the test manual, suggesting low sensitivity with the current cutoff criteria. Interrater reliability was also much lower than originally reported by the instrument's developer. No significant age or gender effects were found. Level of impairment, as measured by adaptive behavior, was negatively related to total and subscale scores. The implications of these findings were discussed, as was the use of diagnostic instruments in the field in general.

Adult↗

PubMed2006

Neuropsychiatric and neurodevelopmental outcome of children at age 6 and 7 years who screened positive for language problems at 30 months.

We present a prospective study at school age of neuropsychiatric and neurodevelopmental outcome of language delay suspected at child health screening around 30 months of age. In a community sample, 25 children (21 males, 4 females) screening positive and 80 children (38 males, 42 females) screening negative for speech and language problems at age 30 months were examined in detail for language disorders at age 6 years. The screen-positive children were then followed for another year and underwent in-depth neuropsychiatric examination by assessors blind to the results of previous testing. Detailed follow-up results at age 7 years were available for 21 children. Thirteen of these 21 children (62%) had a major neuropsychiatric diagnosis (autism, atypical autism, Asperger's syndrome, attention-deficit-hyperactivity disorder [ADHD]), or combinations of these. Two further children (10%) had borderline IQ with no other major diagnosis. We conclude that children in the general population who screen positive for speech and language problems before age 3 years appear to be at very high risk of autism spectrum disorders or ADHD, or both, at 7 years of age. Remaining language problems at age 6 years strongly predict the presence of neuropsychiatric or neurodevelopmental disorders at age 7 years.

Age Factors↗