SEARCH · PubMed Health

Results for “Autism Spectrum Disorder”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 433 records · Page 24Linked to original sources

PubMed2000

Medication treatment in subjects with autistic spectrum disorders.

Autism is a pervasive developmental disorder that is aetiologically and clinically heterogeneous. Twin and family genetic studies provide evidence for strong genetic components. An international consortium using an affected sib pair strategy has found a promising linkage to a region on chromosome 7. In 10-15 % of the cases autism is due to associated medical conditions that affect normal brain functioning. Post-mortem studies on small case series report cellular abnormalities in the limbic system and cerebellum. Between 10 and 20 % of subjects with autism have macrocephalia, which is in accordance with MRI findings of an increased total brain tissue volume and enlargement most prominent in the occipital and parietal lobes. The most robust and well-replicated neurobiological abnormality in autism is an elevation of whole blood serotonin found in over 30% of the patients. Pharmacological interventions with serotonin reuptake blockers or with atypical neuroleptics that block both dopamine (D2) and serotonin (5-HT2) receptors seem to offer clinical benefit and merit further study.

Adolescent↗

PubMed2001

Pervasive developmental disorder and obstetric complications in children and adolescents with tuberous sclerosis.

Children with autism have an increased risk for obstetric complications but it is not known whether these are of primary aetiological significance. It is also unclear whether obstetric complications play a secondary role in shaping phenotypic expression in individuals at genetic risk for autism. We investigated this question by studying the role of obstetric complications in determining phenotypic manifestations in tuberous sclerosis, a single gene disorder frequently associated with autism spectrum disorders. Obstetric histories of 43 children with non-familial TS and 40 unaffected siblings were obtained using a structured parent interview. ADI-R, ADOS-G and IQ evaluations were undertaken. Children with TS experienced more obstetric complications than their unaffected siblings, but these were related to mild rather than severe adversities. No differences in obstetric complications were found in children with and without autism spectrum disorders and there was no positive correlation between obstetric adversities and severity of autism spectrum disorders or intellectual impairments.

Adolescent↗

PubMed2026

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

Regulatory Factor X3 (RFX3-OMIM#601337) encodes a transcription factor that is highly expressed in the human brain, particularly during neurodevelopment. It has been previously associated with neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual developmental disorder, and attention-deficit/hyperactivity disorder. However, the neurological and epileptic features remain poorly characterized, and no phenotype has yet been formally annotated in OMIM. Here, we report the second known case of Infantile Epileptic Spasms Syndrome (IESS) associated with RFX3 variants. The patient developed clusters of extensor spasms associated with eye deviation and achieved complete remission within two weeks following vigabatrin and ACTH therapy, remaining seizure-free thereafter. During follow-up, he presented with global developmental delay, ASD, and facial dysmorphisms. Genetic analysis by array comparative genomic hybridization identified a de novo heterozygous microdeletion of approximately 147 kb at 9p24.2, involving the initial exons of RFX3 (NM_134428). This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption. It highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.

Humans↗

PubMed2006

The prevalence of autistic spectrum disorders in adolescents with a history of specific language impairment (SLI).

BACKGROUND: Traditionally, autism and specific language impairment (SLI) have been regarded as distinct disorders but, more recently, evidence has been put forward for a closer link between them: a common set of language problems, in particular receptive language difficulties and the existence of intermediate cases including pragmatic language impairment. The present study aimed to examine the prevalence of autism spectrum disorders in a large sample of adolescents with a history of SLI. METHOD: The presence of autism spectrum disorders was examined in seventy-six 14-year-olds with a confirmed history of SLI. A variety of instruments were employed, including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and the Family History Interview (FHI). RESULTS: The prevalence of autism spectrum disorders in young people with SLI was found to be 3.9%, about 10 times what would be expected from the general population. In addition, a much larger number of young people with a history of SLI showed only some autism spectrum symptoms or showed them in a mild form. CONCLUSIONS: Young people with SLI have an increased risk of autism. The magnitude of this risk is considerable. In addition, a larger proportion (a quarter of individuals) present with a number of behaviours consistent with autism spectrum disorders.

Adolescent↗

PubMed2006

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders.

To assess the frequency of cryptic subtelomeric rearrangements in children and adolescents with autism spectrum disorders, blood samples were studied using a complete set of subtelomeric FISH probes in 72 children with autism spectrum disorders. All children had normal high resolution karyotype, DNA fra-X analysis, brain MRI, metabolic work-up, and physical/neurological examination. Subtelomeric analysis did not detect abnormalities in any of the subjects, suggesting the uselessness of such investigations in individuals with primary autism spectrum disorders.

Child↗

PubMed2006

[Autism: neuroimaging].

Autism is a neurodevelopmental disorder with a range of clinical presentations. These presentations vary from mild to severe and are referred to as autism spectrum disorders. The most common clinical sign of autism spectrum disorders is social interaction impairment, which is associated with verbal and non-verbal communication deficits and stereotyped and repetitive behaviors. Thanks to recent brain imaging studies, scientists are getting a better idea of the neural circuits involved in autism spectrum disorders. Indeed, functional brain imaging, such as positron emission tomography, single foton emission tomography and functional MRI have opened a new perspective to study normal and pathological brain functioning. Three independent studies have found anatomical and rest functional temporal lobe abnormalities in autistic patients. These alterations are localized in the superior temporal sulcus bilaterally, an area which is critical for perception of key social stimuli. In addition, functional studies have shown hypoactivation of most areas implicated in social perception (face and voice perception) and social cognition (theory of mind). These data suggest an abnormal functioning of the social brain network in autism. The understanding of the functional alterations of this important mechanism may drive the elaboration of new and more adequate social re-educative strategies for autistic patients.

Auditory Perception↗

PubMed2003

Insomnia is a frequent finding in adults with Asperger syndrome.

BACKGROUND: Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). METHODS: 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version.Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. RESULTS: compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. CONCLUSIONS: the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment plan in these individuals. Conversely, when assessing adults with chronic insomnia the possibility of autism spectrum disorders as one of the potential causes of this condition should be kept in mind.

Adult↗

PubMed2005

Disorganization: the forgotten executive dysfunction in high-functioning autism (HFA) spectrum disorders.

Executive function (EF) abilities were investigated in 72 children with high-functioning autism (HFA) spectrum disorders through the collection of parent ratings and performance on laboratory measures of EF. In addition, discrepancy analysis was used to isolate executive functioning on tasks that carry multiple demands. Comparison of HFA and Asperger Disorder (AD) groups did not reveal consistent differences in EF. Results did indicate global EF deficits in the combined group of children with HFA and AD. Within the EF domain, specific deficits in flexibility and organization were most prominent.

Adolescent↗

PubMed2004

Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis.

Tuberous sclerosis is a genetic condition that is strongly associated with the development of an autism spectrum disorder. However, there is marked variability in expression, and only a subset of children with tuberous sclerosis develop autism spectrum disorder. Clarification of the mechanisms that underlie the association and variability in expression will potentially throw light on the biological processes involved in the etiology of idiopathic forms of autism spectrum disorder. Current evidence indicates that the likelihood of a child with tuberous sclerosis developing an autism spectrum disorder is greater if the child has a mutation in the TSC2 gene, although autism can and does develop in children with TSC1 mutations. The likelihood is also greater if the child has early-onset infantile spasms that are difficult to control, especially if there is an epileptiform focus in the temporal lobes. The emerging evidence is consistent with the notion that early onset electrophysiological disturbances within the temporal lobes (and perhaps other locations) has a deleterious effect on the development and establishment of key social cognitive representations concerned with processing social information, perhaps especially from faces. However, alternative mechanisms to account for the findings cannot yet be ruled out. Future research will have to employ prospective longitudinal designs and treatment trials to clarify the processes involved.

Autistic Disorder↗

PubMed2005

Delayed mismatch field for speech and non-speech sounds in children with autism.

This study investigated the magnetic mismatch field elicited by changes in streams of vowels or spectrally matched tones in children with autism spectrum disorder (ASD) relative to children with typical development to explore whether impaired sound discrimination may contribute to language impairments in autism spectrum disorder. Using magnetoencephalography, we recorded evoked neural activity to 300-Hz and 700-Hz tones (and /u/ and /a/ vowels) presented in an oddball paradigm with deviant stimuli (15%) occurring within a train of standards (85%). The magnetic mismatch field was robustly observed in both groups, but children with autism spectrum disorder demonstrated a significantly delayed magnetic mismatch field compared with typically developing peers. Difficulty parsing transient differences in sounds may lead to impaired acoustic or phonological representations and subsequent language impairment in autism spectrum disorder.

Adolescent↗

PubMed2006

Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study.

In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit/hyperactivity disorder and autism spectrum disorders in childhood, and schizophrenia in adolescence or adult life. However, the neurobiology of 22qDS, and the relationship between abnormalities in brain anatomy and behaviour, is poorly understood. Thus, we studied the neuroanatomy of 22qDS children using fully automated voxel-based morphometry (VBM) and manually traced single region-of-interest (ROI) analysis. Also, we investigated whether those brain regions that differed significantly between groups were related to behavioural differences within children with 22qDS. We compared the brain morphometry of 39 children and adolescents with 22qDS (mean age: 11 years, SD +/-3, IQ = 67, SD +/-10) and 26 sibling controls (mean age: 11 years, SD +/-3, IQ = 102, SD +/-12). Using VBM, we found, after correction for IQ, that individuals with 22qDS compared with controls had a significant reduction in cerebellar grey matter, and white matter reductions in the frontal lobe, cerebellum and internal capsule. Using single ROI analysis, we found that people with 22qDS had a significant (P < 0.05) reduction in bulk volume bilaterally in the occipital-parietal lobes, but a larger right caudate nucleus and lateral ventricles. Further, within people with 22qDS, there was a significant positive correlation between severity of (i) schizotypy score and grey matter volume of the temporo-occipital regions and the corpus striatum; (ii) emotional problems and grey matter volume of frontostriatal regions; and (iii) social behavioural difficulties and grey matter in frontostriatal regions. Thus, subjects with 22qDS have widespread changes in brain anatomy, particularly affecting white matter, basal ganglia and cerebellum. Also, within 22qDS, regionally specific differences in brain development may partially underpin behavioural differences. We suggest that there is preliminary evidence for specific vulnerability of the frontostriatal and cerebellar-cortical networks in 22qDS.

Adolescent↗

PubMed2006

Hardy-Weinberg disequilibrium identified genotyping error of the serotonin transporter (SLC6A4) promoter polymorphism.

We analyzed the putative functional promoter polymorphism of the serotonin transporter (5-HTTLPR) in two large autism spectrum disorder samples and a control sample. A Hardy-Weinberg disequilibrium was detected for 5-HTTLPR in the unaffected founders of both autism spectrum disorder samples and control samples. When we lowered the total magnesium concentration in the polymerase chain reaction below levels reported in previously published studies, we observed a shift in relative allele frequencies and restoration of the Hardy-Weinberg equilibrium. Our data suggest that higher magnesium concentrations caused allele-dependent, non-random genotyping errors. Genotyping data obtained from the 2 mM magnesium protocol increased the significance of linkage and gave suggestive (P=0.06) association with autism spectrum disorder, whereas the corrected genotypes of 5-HTTLPR provide no linkage information beyond the results we have previously published and no evidence of association with autism spectrum disorder. We present details regarding appropriate polymerase chain reaction conditions for the accurate genotyping of this polymorphism.

Autistic Disorder↗

PubMed2006

Amygdalar volume and behavioral development in autism.

CONTEXT: The amygdala is associated with socioemotional function and has been implicated in the pathophysiology of autism. OBJECTIVE: To examine the relationship between amygdalar volume at ages 3 and 4 years and severity of clinical course and outcome at 6 years of age in children with autism spectrum disorder. DESIGN: Magnetic resonance images acquired at 3 and 4 years of age were used to measure total cerebral, amygdalar, and hippocampal volumes. Acquisition of social and communication skills was assessed semiannually using the Vineland Adaptive Behavior Scales. Hierarchical linear models were used to predict variability in individual linear growth trajectories as a function of IQ, total cerebral, and amygdalar or hippocampal volumes. SETTING: Longitudinal study of children with autism spectrum disorder. PARTICIPANTS: Forty-five children with autism spectrum disorders between 3 and 6 years of age. MAIN OUTCOME MEASURE: Linear growth trajectory of age equivalence Vineland communication and social scores. RESULTS: Larger right amygdalar volume was associated with more severe social and communication impairments at ages 3 and 4 years. Larger right amygdalar volume also was predictive of poorer social and communication abilities at age 6 years, even after controlling for IQ and total cerebral volume. Parallel analyses with hippocampal volumes found no relationship to social or communication development. CONCLUSIONS: Larger right amygdalar volume at 3 and 4 years of age, but not left amygdalar, hippocampal, or total cerebral volume, is associated with a more severe clinical course and worse outcome at age 6 years in children with autism spectrum disorder. These results provide additional evidence that amygdalar development is implicated in the behavioral impairments found in autism.

Amygdala↗

PubMed2006

Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.

We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland Adaptive Behavior Scale (VABS), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Scale-Generic (ADOS-G), measures that are widely used to diagnose autism spectrum disorders. We tested for association between the AVPR1a microsatellites and autism in 116 families (128 probands diagnosed with the ADI-R and ADOS-G using a family-based association test (UNPHASED)). Testing each individual microsatellite showed significant transmission disequilibrium in these families with the AVR intronic microsatellite (UNPHASED: LRS=11.46, global P-value=0.009, df=3). Haplotype analysis of three microsatellites also showed significant association (LRS=144.94, df=103, global P=0.004). Additionally, significant association is observed between these three microsatellite haplotypes and the VABS scores (P=0.009), with the ADI-R (P=0.009) and the ADOS-G (P=0.0000765) diagnoses of autistic disorder versus pervasive developmental disorder-not otherwise specified (PDD-NOS) that were available for 47 of these probands. This is the third consecutive report of an association between the AVPR1a gene and autism spectrum disorders and in the current study a third microsatellite is shown to be associated with autism spectrum disorders as well as haplotypes consisting of all three markers. Importantly, the association appears to be mainly mediated by the role of the AVPR1a gene in shaping socialization skills, similar to its role in lower vertebrates.Molecular Psychiatry (2006) 11, 488-494. doi:10.1038/sj.mp.4001812; published online 7 March 2006.

Adolescent↗

PubMed2006

[Urine peptide patterns in children with milder types of autism].

BACKGROUND: Autism is a severe developmental disorder. The condition is probably not homogenous. Elevated urine peptides have been found in individuals affected by autism spectrum disorders. This finding may be explained by characteristics of the samples studied. Autistic children without mental retardation (high-functioning autism) or mild mental retardation may represent a more homogenous group among those suffering from autism spectrum disorders. The purpose of this study is to compare urine peptide patterns in this group of patients with healthy controls. This has never been done before. METHOD: Urine from the first miction was frozen immediately in order to inhibit bacterial growth and enzymatic degeneration. Peptides from the urine samples were later analysed by high pressure liquid chromatography (HPLC). RESULTS: No significant differences in urine peptide values were found between the autism spectrum disorders group and the controls. There was an age dependent decrease in peptides, with values decreasing with the age of the child. Three individuals in the autism group (17%) and one in the familiar control group (0.05%) had high levels of urine peptides. No one in the same age non-familiar control group had elevated levels of urine peptides. INTERPRETATION: This study shows that high-functioning autism cannot be identified by the urine peptide pattern.

Adolescent↗

PubMed2002

Minor form of trigonocephaly is an autistic skull shape? A suggestion based on homeobox gene variants and MECP2 mutations.

A possible role for Hoxa1 genotype in susceptibility to autism spectrum disorders was recently proposed. Furthermore, it has been demonstrated that Rett syndrome, which is categorized into pervasive developmental disorders the same as the autism spectrum disorders are, is associated with mutations in MECP2 gene. These findings suggest that the genetic backgrounds of these behavioral conditions may involve genes which also have an important role in the development of skull, because Hoxa1 is a key gene for skull development as well as for brain development and one of the clinical characteristics of Rett syndrome is deceleration in head growth. Together with this evolving knowledge, a series of ethical arguments concerning the indication of surgical treatment in patients with minor forms of trigonocephaly with autistic behaviors and/or hyperactivity leads us to hypothesize the presence of an autism subtype which may frequently be accompanied by specific morphological skull characteristics (autistic skull shape).

Attention Deficit Disorder with Hyperactivity↗

PubMed2003

Outcome of teenage-onset anorexia nervosa in a Swedish community-based sample.

In a prospective long-term outcome study of a representative sample of teenage-onset anorexia nervosa (AN), 51 individuals with AN, recruited after community screening, were contrasted with 51 matched comparison cases at a mean age of 24 years (10 years after AN onset). All 102 cases had been examined at age 16 and 21 years. At 24 years all probands were interviewed regarding mental and physical health, and overall outcome was assessed. Ten-year outcome of teenage-onset AN seemed to be relatively favourable in that half of all cases were free from eating disorder (ED) and other axis I disorder. There were no deaths. However, one in four in the AN group had a persisting ED, 3 of whom still had AN. Lifetime diagnoses of affective disorders and obsessive-compulsive disorder (OCD) were overrepresented in the AN group. Affective disorders coincided with the ED, and were not a problem after recovery from the ED. On the other hand, OCD, OCPD (obsessive-compulsive personality disorder), and/or autism spectrum disorder continued to characterise more than one-third of the AN cases. One in six of the AN group had persistent problems with social interaction and obsessive compulsive behaviours from childhood into early adult years. Half the AN group had a poor overall outcome. These were subjects with either persisting ED or lifelong problems with social interaction and obsessive compulsive behaviour.

Adolescent↗

PubMed2005

The genetic basis of hair whorl, handedness, and other phenotypes.

Evidence is presented that RHD, RHCE, and other RH genes, may be interesting candidates to consider when searching for the genetic basis of hair whorl rotation (i.e., clockwise or counterclockwise), handedness (i.e., right handed, left handed or ambidextrous), speech laterality (i.e., right brained or left brained), speech dyslexia (e.g., stuttering), sexual orientation (i.e., heterosexual, homosexual, bisexual, or transsexual), schizophrenia, bipolar disorder, and autism spectrum disorder. Such evidence involves the need for a genetic model that includes maternal immunization to explain some of the empirical results reported in the literature. The complex polymorphisms present among the maternally immunizing RH genes can then be used to explain other empirical results. Easily tested hypotheses are suggested, based upon genotypic (but not phenotypic) frequencies of the RH genes. In particular, homozygous dominant individuals are expected to be less common or lacking entirely among the alternative phenotypes. If it is proven that RH genes are involved in brain architecture, it will have a profound effect upon our understanding of the development and organization of the asymmetrical vertebrate brain and may eventually lead to a better understanding of the developmental processes which occur to produce the various alternative phenotypes discussed here. In addition, if RH genes are shown to be involved in the production of these phenotypes, then the evolutionary studies can be performed to demonstrate the beneficial effect of the recessive alleles of RHD and RHCE, and why human evolution appears to be selecting for the recessive alleles even though an increase in the frequency of such alleles may imply lower average fecundity among some individuals possessing them.

Chromosome Mapping↗