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PubMed2003

Update on the language disorders of individuals on the autistic spectrum.

Inadequate language is a defining feature of the autism spectrum disorders (autism). Autism is a behaviorally and dimensionally defined developmental disorder of the immature brain that has a broad range of severity and many etiologies, with multiple genes involved. Early studies, which focused on the language of verbal children on the autistic spectrum, emphasized aberrant features of their speech such as unusual word choices, pronoun reversal, echolalia, incoherent discourse, unresponsiveness to questions, aberrant prosody, and lack of drive to communicate. Persistent lack of speech of some individuals was attributed to the severity of their autism and attendant mental retardation rather than possible inability to decode auditory language. Clinical study of unselected children with autism indicated that the language deficits of preschoolers fall into two broad types, perhaps with subtypes, those that involve reception and production of phonology (sounds of speech) and syntax (grammar), and those that do not but involve semantics (meaning) and pragmatics (communicative use of language, processing, and production of discourse). Except for the preschoolers' universally deficient pragmatics and comprehension of speech, many of their language deficits parallel those of non-autistic preschoolers with developmental language disorders. There is now biological support for the clinical observation that young autistic children are language disordered as well as autistic. Recent electrophysiological studies disclose auditory input abnormalities in lateral temporal cortex even in verbal individuals on the autistic spectrum. Severe receptive deficits for phonology enhance the risk for epilepsy. Genetic studies indicate that linkage to chromosome 7q31-33 is limited to families with evidence for phonologic impairment as well as autism. Clearly, social and cognitive disorders alone provide an inadequate explanation for the range of language deficits in autism.

Auditory Perception↗
PubMed2006

Magnesium profile in autism.

The aim of the present study was to determine and compare plasma and erythrocyte concentrations of magnesium in 12 autistic children (10 boys, 2 girls), 17 children with other autistic spectrum disorders (14 boys, 3 girls), 5 girls with classic Rett syndrome, and 14 normal children (7 boys, 7 girls) of the same age. No differences in intracellular Mg were found between controls and pathological subjects; however, autistic children and children with other autistic spectrum disorders had significantly lower plasma concentrations of Mg than normal subjects (p=0.013 and p=0.02, respectively). Although our study population was small, we conclude that children with autistic spectrum disorders require special dietary management. If these cases are diagnosed at an early stage, they can be helped through diet.

Adolescent↗
PubMed1995

The sleep/wake rhythm in children with autism.

The sleep patterns of two groups of children with autism, one with moderate to severe intellectual handicap, and one with mild handicap to normal IQ level, were compared with those of children without autism. Parents completed 14 day sleep diaries and questionnaires. Results suggested that at some stage during childhood, particularly under 8 years of age, the majority of children with autism will experience sleep problems. These problems are likely to be severe in many cases and will generally include one or more of: extreme sleep latencies; lengthy periods of night waking, shortened night sleep; and early morning waking. Such problems may have some specificity for autism as they appear to be rare in non-handicapped children and in children with mild degrees of intellectual handicap. It is likely that sleep problems in early childhood are related to the severe social difficulties present in autism and the consequent inability of these children to use social cues to synchronize their sleep/wake cycle. Continued sleep difficulties at older ages and with higher IQ may also be related to arousal and anxiety factors.

Adolescent↗
PubMed2005

Subtypes of autism by cluster analysis based on structural MRI data.

The aim of our study was to subcategorize Autistic Spectrum Disorders (ASD) using a multidisciplinary approach. Sixty four autistic patients (mean age 9.4+/-5.6 years) were entered into a cluster analysis. The clustering analysis was based on MRI data. The clusters obtained did not differ significantly in the overall severity of autistic symptomatology as measured by the total score on the Childhood Autism Rating Scale (CARS). The clusters could be characterized as showing significant differences: Cluster 1: showed the largest sizes of the genu and splenium of the corpus callosum (CC), the lowest pregnancy order and the lowest frequency of facial dysmorphic features. Cluster 2: showed the largest sizes of the amygdala and hippocampus (HPC), the least abnormal visual response on the CARS, the lowest frequency of epilepsy and the least frequent abnormal psychomotor development during the first year of life. Cluster 3: showed the largest sizes of the caput of the nucleus caudatus (NC), the smallest sizes of the HPC and facial dysmorphic features were always present. Cluster 4: showed the smallest sizes of the genu and splenium of the CC, as well as the amygdala, and caput of the NC, the most abnormal visual response on the CARS, the highest frequency of epilepsy, the highest pregnancy order, abnormal psychomotor development during the first year of life was always present and facial dysmorphic features were always present. This multidisciplinary approach seems to be a promising method for subtyping autism.

Autistic Disorder↗
PubMed2006

Psychopathology in adults with autism and intellectual disability.

There have been few studies of psychopathology in adult with autism. This study examined psychiatric co-morbidity in 147 adults with intellectual disability (ID) and autism and 605 adults with ID but without autism. After controlling for the effects of gender, age, psychotropic medication and level of ID, people with autism and ID were no more likely to receive a psychiatric diagnosis than people with ID only. People with autism were less likely to receive a diagnosis of personality disorder. These findings cast doubts on the hypothesis that adults with ID and autism are more vulnerable to certain psychiatric disorders than non-autistic adults with ID.

Adolescent↗
PubMed2006

Treating anxiety disorders in children with high functioning autism spectrum disorders: a controlled trial.

A family-based, cognitive behavioural treatment for anxiety in 47 children with comorbid anxiety disorders and High Functioning Autism Spectrum Disorder (HFA) was evaluated. Treatment involved 12 weekly group sessions and was compared with a waiting list condition. Changes between pre- and post-treatment were examined using clinical interviews as well as child-, parent- and teacher-report measures. Following treatment, 71.4% of the treated participants no longer fulfilled diagnostic criteria for an anxiety disorder. Comparisons between the two conditions indicated significant reductions in anxiety symptoms as measured by self-report, parent report and teacher report. Discussion focuses on the implications for the use of cognitive behaviour therapy with HFA children, for theory of mind research and for further research on the treatment components.

Adolescent↗
PubMed1993

The neurobiology and genetics of infantile autism.

Autism is a syndrome with multiple etiologies, as is made clear both by the evidence of neurobiological research and by the catalog of disorders that present with autistic behaviors. What remains unclear are the specific neuropathological mechanisms that produce autistic behaviors; for example, is there a common neuroanatomic pathology for all cases of autism, or can autistic behaviors emerge from different pathological sequences within the brain? Although it is premature to generalize, neuropathological studies appear to have identified common abnormalities in the cerebellum and limbic system of at least five autistic subjects. These subjects, with variable levels of mental retardation, demonstrated marked Purkinje cell loss in the cerebellar hemispheres, together with retained fetal neuronal circuitry in cerebellar nuclei and increased neuronal packing in specific regions of the limbic system, amygdala, and hippocampus. The architecture of the cerebral cortex was not affected. Although our knowledge of brain functioning is incomplete, alterations of the kind noted in the cerebellum and limbic system could reasonably produce autistic behaviors. For more detail, readers are directed to a review of cerebellar contributions to higher functions by Schmahmann (1991). Neuroimaging studies allow less resolution of brain structure than do neuroanatomic studies, and the reported findings from neuroimaging are somewhat contradictory. However, a number of investigators have reported structural abnormalities in ventricle size and cerebral hemispheric asymmetry using CT. MRI, which offers greater resolution, has uncovered some consistent findings, along with a variety of nonspecific abnormalities. Common abnormalities include reduced volume of cerebellar hemispheres and vermal lobules--findings not inconsistent with the above-mentioned neuropathological defects. It is also interesting to note that individuals with fragile X syndrome have similar cerebellar findings. PET and NMR studies of autism are at a preliminary stage, but these methodologies allow insight into the functioning of the brain, rather than simply brain anatomy. Recent PET studies indicating decreased association between paired regions of the brains of autistic subjects are of interest, particularly if they can be confirmed and refined by additional studies. Neurophysiological studies also offer insight into brain function, but are subject to numerous methodological criticisms. Nevertheless, recent reports of diminished P300 waves and absent NC components in autistic subjects seem to indicate fundamental defects in attention and secondary processing, which could help explain the self-stimulatory behaviors often seen in autism. The disturbances in brain development associated with autism can be produced in a number of ways, and at different times during development of the nervous system.(ABSTRACT TRUNCATED AT 400 WORDS)

Autistic Disorder↗
PubMed2002

Depression in persons with autism: implications for research and clinical care.

Although several studies have investigated the occurrence of medical and neurological conditions in persons with autism, relatively few reports have focused on the phenomenology and treatment of psychiatric disorders in this population. There is emerging evidence that depression is probably the most common psychiatric disorder that occurs in autistic persons. In this review, we examine the factors that influence the presence of depression in this population, such as the level of intelligence, age, gender, associated medical conditions, and the role of genetic factors and life events. We discuss the various forms of treatment available and highlight the need for early detection.

Antidepressive Agents↗
PubMed2006

Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism.

Previous studies revealed a linkage of the kainate receptor GluR6 with autism, a pervasive developmental disorder. Mutational screening in autistic patients disclosed the amino acid exchange M836I in a highly conserved domain of the cytoplasmic C-terminal region of GluR6. Here, we show that this mutation leads to GluR6 gain-of-function. By using the two-electrode voltage clamp technique we observed a significant increase of current amplitudes of mutant GluR6 compared to wild type GluR6. Western blotting of oocytes injected with mutant or wild type GluR6 cRNA and transfection of EGFP-tagged GluR6 receptors into COS-7 cells revealed an enhanced plasma membrane expression of GluR6(M836I) compared to wild type GluR6. Membrane expression of GluR6(M836I) but not of wild type GluR6 seems to be regulated by Rab11 as indicated by our finding that GluR6(M836I) but not wild type GluR6 showed increased current amplitudes and protein expression when coexpressed with Rab11. Furthermore, injection of GTP plus Rab11A protein into oocytes increased current amplitudes in GluR6(M836I) but not in wild type GluR6. By contrast, Rab5 downregulated the currents in oocytes expressing wild type GluR6 but had only little, statistically not significant effects on currents in oocytes expressing GluR6(M836I). Our data on altered functional properties of GluR6(M836I) provide a functional basis for the postulated linkage of GluR6 to autism. Furthermore, we identified new mechanisms determining the plasma membrane abundance of wild type GluR6 and GluR6(M836I).

Amino Acid Substitution↗
PubMedDate not supplied

[Specific aspects of psychoses in mentally retarded children and adolescents].

Mental retardation is a heterogenous neurodevelopmental disorder characterized by arrested or incomplete psychological development. The first part of the study deals with psychological and biological factors: etiology and pathogenesis of mental retardation and comorbid psychiatric disorders. Their etiopathogenesis is similar as in other neurodevelopmental disorders and it was analyzed in the part dealing with biological specificities of persons with mental retardation. Numerous biopsycho-social factors cause increased vulnerability of the mentally retarded to development of mental disorders. Thus, prevalence of these disorders is higher in mentally retarded persons than in general population. This study also deals with specificities regarding diagnosis of psychotic disorders in mentally retarded persons as well as neurobiologic, epidemiologic, clinical and therapeutic characteristics of schizophrenic psychoses, autism and affective disorders in persons with mental retardation. Special emphasis was given to diagnostics of these disorders in mentally retarded children and adolescents, as well as to problems of differential diagnostics. Apart from other things, we have concluded that specific clinical pictures demand subspeciality approach in the frame of developmental psychiatry.

Adolescent↗
PubMed2001

A study looking at the effectiveness of developmental screening in identifying learning disabilities in early childhood.

This is a retrospective study of children under six years of age referred to the Brothers of Charity Early Intervention Services in County Galway, a service that caters for children under 6 years with learning disabilities. The aim in doing this study was to assess the value of routine developmental screening in identifying children with learning difficulties. This study also investigates the patterns and sources of referral to the remedial services provided by the Brothers of Charity and highlights possible avoidable delays in referral. The results showed that many children were referred for remedial services late. The reasons for late referral included late identification of some children with problems, insufficient co-ordination of community-based services and a lack of awareness of the importance of early intervention in some cases. As some communication disorders such as autism, autistic spectrum disorders and specific language delay may not express themselves until the later part of the second year of life, the 18-24 month developmental assessment is of vital importance. However identification of these disorders can present difficulties and may call for additional training for professionals involved in the developmental screening of children in that age group. The interval between initial identification and referral for remedial care in many cases was more than twelve months. We propose that, in order to minimize this time, children requiring a more in-depth assessment should be assessed by a community-based multidisciplinary team, enabling integrated assessment by the different disciplines and thus speedier referral to remedial services.

Child, Preschool↗
PubMed2006

Effects of season of birth on autism spectrum disorders: fact or fiction?

OBJECTIVE: This study attempted to examine the relationship between month and season of birth and risk for autism spectrum disorders. METHOD: The cohort included all Jewish individuals born in Israel over 5 consecutive years (N=311,169) and assessed by the Israeli Draft Board as part of the mandatory assessment of eligibility for military service conducted at age 17. The outcome of autism spectrum disorders was ascertained from the Draft Board Medical Registry, which contains information about medical and psychiatric disorders for this population of adolescents. RESULTS: There was no association between month or season of birth and the prevalence of autistic spectrum disorders. CONCLUSIONS: The findings from this historical, population-based cohort study do not support an association between season of birth and autistic spectrum disorders.

Adolescent↗
PubMed2005

Stimulus over-selectivity in rats.

The present study explored whether a similar phenomenon to stimulus over-selectivity occurred in rats, in the hope of establishing a non-human model for the autism. Rats were serially presented with two-15 seconds, two-element compound stimuli prior to the delivery of food, in an appetitive classical conditioning procedure. Each compound stimulus consisted of two lights. Once the rats had acquired a conditioned response (CR) to the stimuli, they were presented with each of the component elements separately in extinction. The rats demonstrated greater conditioning to components of the compound presented just prior to reinforcement than to the components of the temporally distant compound. However, there was a smaller difference between CRs to the components of the compound presented just prior to reinforcement (i.e. less overshadowing) than between the components of the temporally distant compound. It is suggested that rats demonstrated a form of stimulus over-selectivity, resulting in greater overshadowing of one cue by another. Such results may form the basis of a viable non-human model of this symptom of autistic spectrum disorder.

Animals↗
PubMed2006

Brief report: relative effectiveness of different home-based behavioral approaches to early teaching intervention.

The effectiveness of home-based early behavioral interventions for children (2:6-4:0 years old) with autistic spectrum disorders was studied over 9-10 months. Measures of autistic severity, intellectual, educational, and adaptive behavioral functioning were taken. There was no evidence of recovery from autism. High-intensity behavioral approaches (mean 30 h/week) produced greater gains than low-intensity programs (mean 12 h/week). Lovaas- and complete application of behavior analysis to schools approach-type interventions produced largest gains [similar to gains produced by longer-term clinic-based applied behavior analysis (ABA) programs]. Within the high-intensity groups, increased temporal input on the program was not associated with increased gains in the children. The results from clinic-based ABA trials were partially replicated on a home-based sample, using children with greater autistic and intellectual impairments.

Age Factors↗