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PubMed2003

Autism families with a high incidence of alcoholism.

To determine the significance of neuropsychiatric disorders in autism families, we analyzed 167 pedigrees ascertained through an autistic child; 39% had alcoholism in patterns consistent with transmission of a genetic trait. Children from high alcoholism families were more likely to have the onset of their autistic behavior occur with a loss of language (52.5% vs. 35.8%, p = 0.04). This occurred primarily in families where the mother was alcoholic (80% vs. 40%, p = 0.05), suggesting an association between maternal alcoholism and regressive onset autism. Children from high alcoholism families were less likely to be macrocephalic (14.7% vs. 40.6%, p = 0.0006). Children from high alcohol and low alcohol families did not differ in dysmorphology status, IQ, sex ratio or sib recurrence risk.

Adolescent↗

PubMed2006

Parental perceptions and use of complementary and alternative medicine practices for children with autistic spectrum disorders in private practice.

The prevalence of autistic spectrum disorder (ASD) in the United States is approximately 1 in 150 children. Many health care providers are unaware of parental beliefs and treatments, both medical and complementary, that parents use for their child with ASD. Understanding these beliefs and practices concerning diagnosis, cause, and utilization of medical and complementary care may help physicians provide better comprehensive care. Parents of children with ASD from 2 private practices-one in New York and one in New Jersey-were mailed a 6-page, self-administered survey. In addition to demographics and ASD type, the survey asked parents who diagnosed their child and if there was a perceived delay in that diagnosis; whether they believed there was any causal reason for their child's autism; what chronic symptoms, if any, their child experiences; and, if they had used any complementary and/or alternative therapies and at whose recommendation. Respondents included 77 of the 150 parents (51%) contacted. Most children were diagnosed by a neurologist and/or developmental pediatrician (54% and 47%, respectively). Average perceived delay in diagnosis was 18 months. Parents most frequently cited immunizations (54%), genetic predisposition (53%), and environmental exposure (38%) as a cause of their child's autism. Approximately half of children were reported as having at least one gastrointestinal, neurological, and/or allergic symptom; more than a third had immunological symptoms. Almost all parents (95%) indicated some use of complementary and alternative medicine (CAM) therapies, with most of the self-reported referrals generated from a physician or nurse (44%). Systemic complaints, parental beliefs, and use of CAM practices warrant open discussion by all health care professionals who provide care to this population.

Asperger Syndrome↗

PubMed2005

Diagnosis of autistic spectrum disorders in Queensland: variations in practice.

OBJECTIVE: For both paediatricians and child psychiatrists, referrals to assess possible autistic spectrum disorders (ASD) are increasing. This study examines current practices of medical specialists in the assessment of these disorders. METHODS: An anonymous, self-report questionnaire was sent to all Queensland paediatricians and child psychiatrists. The survey elicited frequencies of consultation for ASD, diagnostic method, advice provided and perceived adequacy of training for this work. RESULTS: Responses were received from 79 (85%) eligible paediatricians and 26 (58%) eligible child psychiatrists. For one-third of all clinicians, new consultations for possible ASD occurred as often as 2-3 times per week. Most specialists approached the clinical diagnosis of ASD by considering history from different sources and professional assessments. Paediatricians (86%) were more likely than child psychiatrists (62%) to request genetic studies for children with severe autism (P = 0.01). Both general paediatricians and developmental paediatricians perceived level of training for possible ASD consultations was significantly worse than child psychiatrists (P < 0.001 and P = 0.02, respectively), but no difference was found between paediatric groups (P = 0.27). Perceived adequacy of specialist training was not associated with length of experience in clinical practice. CONCLUSION: Medical practice in Queensland around diagnosis of ASD is characterized by considerable variability. There is still a long way to go if we are to achieve consistency around medical issues of organic diagnosis and practices impacting on health as well as consideration of differential developmental diagnoses. The finding that recently trained paediatricians felt just as unprepared for this work as their older colleagues suggests that the graduate training response to this 'new morbidity' has not been adequate.

Autistic Disorder↗

PubMedDate not supplied

Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children.

Comparison of 34 fragile X [(fra(X)] male children (age 3-18 years) with 32 IQ- and age-matched, non-fra(X) male control children was conducted using specific DSM-III-R criteria for autism. Statistical analyses supported predictions that fra(X) males show increased dysfunction in peer social play, nonverbal communication (e.g., gaze aversion, gesturing), verbal communication (e.g., rate, volume, word/phrase perseveration), and repetitive motor behaviors (e.g., handflapping, rocking). There was a trend for fra(X) children to show abnormal responsivity to sensory stimuli as well such as oversensitivity to sound and increased mouthing or smelling of objects. The investigation supports the contention that fra(X) males manifest a specific subset of behaviors from the autistic spectrum. Implications for treatment are discussed.

Adolescent↗

PubMed1992

Autism in fetal alcohol syndrome: a report of six cases.

This paper reports on six children who all fulfill the criteria for fetal alcohol syndrome and have a history of maternal alcohol abuse during pregnancy, and who also fulfill the criteria for diagnosis of autism. Their behavior and natural history is compared with eight contrast FAS children, of similar ages and functional levels, who were free of autistic behaviors. The autistic FAS children were all moderately or severely retarded. Autistic behavior has not been commonly associated with prenatal alcohol exposure. Clinicians need to be aware of this potential dual diagnosis so that appropriate educational and treatment resources can be employed.

Adolescent↗

PubMed2005

The Adult Asperger Assessment (AAA): a diagnostic method.

At the present time there are a large number of adults who have suspected Asperger syndrome (AS). In this paper we describe a new instrument, the Adult Asperger Assessment (AAA), developed in our clinic for adults with AS. The need for a new instrument relevant to the diagnosis of AS in adulthood arises because existing instruments are designed for use with children. Properties of the AAA include (1) being electronic, data-based, and computer-scorable; (2) linking with two screening instruments [the Autism Spectrum Quotient (AQ) and the Empathy Quotient (EQ)]; and (3) employing a more stringent set of diagnostic criteria than DSM-IV, in order to avoid false positives. The AAA is described, and its use with a series of n = 42 clinic-patients is reported. Thirty-seven of these (88%) met DSM-IV criteria, but only 34 of these (80%) met AAA criteria. The AAA is therefore more conservative than DSM-IV.

Adult↗

PubMedDate not supplied

Internet survey of treatments used by parents of children with autism.

We developed an Internet survey to identify treatments used by parents of children with autism. The survey listed 111 treatments and was distributed via colleagues and through chapters of the Autism Society of America and Autism Organizations Worldwide. A total of 552 parents submitted usable returns during the 3-month survey period. On average the parents reported using seven different treatments. The number of treatments used varied as a function of the child's age and type/severity of disability within the autism spectrum. Speech therapy was the most commonly reported intervention, followed by visual schedules, sensory integration, and applied behavior analysis. In addition, 52% of parents were currently using at least one medication to treat their child, 27% were implementing special diets, and 43% were using vitamin supplements. Because parents were using a large number of treatments, many of which lack empirical support, future research should focus on understanding the decision-making processes that underlie treatment selection by parents of children with autism.

Adult↗

PubMed1998

[Frequency and current clinical diversity of cerebral cortical dysgenesis].

OBJECTIVE: The extended use of MRI has increased the number of patients diagnosed of cortical dysgenesis and has changed the clinical spectrum usually associated with this disorder. The aim of this study was to know the frequency and clinical variety of cortical dysgenesis in our current patient population. PATIENTS AND METHODS: All patients with dysgenesis of the neocortex or of the hippocampus, according to radiological or pathological features, were selected from the total number of patients attended during 1996 at an outpatient hospital-based neuropediatric clinic. Malformations of cerebellar cortex and neurocutaneous syndrome were excluded. RESULTS: Twenty-one patients (1.3% of all patients attended at the clinic) studied by MRI showed polymicrogyria (43%) which was of perisilvian localization in three patients, heterotopias (33%), dysplasia of the hippocampus (24%), agyria-pachygria (14%) and hemimegaencephalia (5%). Three patients underwent surgical interventions. Epilepsy was present in 90%, mental retardation in 68%, cerebral palsy 47%, infantile spasms 40%, microcephally 25%, autism 10%, hyperkinesis 5% and learning disabilities in 33% of those school age children free of mental retardation. CONCLUSIONS: The actual prevalence of cortical dysgenesis at our clinic is similar to that of neurodevelopmental impairments following birth-asphyxia (1.2%), amounting to two thirds of those following prematurity and to half of those following a brain injury of late prenatal onset. Except for the almost constant presence of epilepsy, especially infantile spasms, clinical symptomatology is diverse and occurs in a similar percentages in brain lesions acquired during labour or during late pregnancy. Hyperkinesis and autism have a similar prevalence to that seen in the total number of patients attended at the clinic during 1996.

Cerebral Cortex↗

PubMed2024

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1.

Child↗

PubMed2006

Quantitative assessment of autistic symptomatology in preschoolers.

Given a growing emphasis on early intervention for children with autism, valid quantitative tools for measuring treatment response are needed. The Social Responsiveness Scale (SRS) is a brief (15-20 minute) quantitative measure of autistic traits in 4-to 18-year-olds, for which a version for 3-year-olds was recently developed. We obtained serial SRS measurements on 73 preschool children with (n = 51) and without (n = 22) autism spectrum conditions. Inter-rater reliability (mothers and teachers) and test-retest reliability were of the order of 0.75 (Pearson's r). There was substantial agreement between SRS scores and (1) the Vineland Adaptive Behavior Composite (Pearson's r = -0.86) and (2) scores for social impairment on the Autism Diagnostic Interview-Revised (r = 0.63). Overall, quantitative autistic trait scores tended to improve over time in preschoolers, irrespective of treatment conditions. We conclude that it is possible to obtain reliable quantitative measurements of autistic social impairment in preschoolers, suitable for assessing treatment response.

Autistic Disorder↗

PubMed1988

Symptom development in childhood onset schizophrenia.

Symptom development from birth to 12 years of age was examined in 18 children who met DSM-III criteria for schizophrenia with onset before 10 years of age. Using a follow-back design, symptom development was rated at each of four age levels using a DSM-III Symptom Rating Scale and the Achenbach Child Behavior Checklist. Results revealed a gradual developmental unfolding of a broad spectrum of symptoms affecting social, cognitive, sensory and motor functioning and beginning many years before the appearance of schizophrenic symptoms--usually in early infancy. Prior to 6 years of age, severe language deficits and motor development problems were each found in 72% of the sample and symptoms of infantile autism were found in 39% of the sample. Onset of schizophrenia occurred at an earlier age for children with a history of autistic symptoms during infancy than for other children in the sample. Schizophrenia as defined by DSM-III was entirely absent before 6 years of age.

Autistic Disorder↗

PubMed2003

Beyond echoplaylia: promoting language in children with autism.

The article was written to support the use of play as a medium to extend and enrich the communicative exchanges and, more specifically, the symbolic language of children on the autistic spectrum. The first argument in support of such use of play lies within the features of autistic communication, and particularly the extreme challenges encountered in imaginative play and narrative thought. The second argument on behalf of play lies within the selection of specific intervention strategies, which are discussed subsequently. Finally, the article presents a case illustration of how adult facilitated dramatic peer play led to a breakthrough in a range of symbolic behaviours in a 9-year-old girl with autism, who up to that point had not progressed beyond a semi-communicative use of echolalia, best described as 'situation association'.

Autistic Disorder↗

PubMedDate not supplied

Achieving dialogue with children with severe autism in an adaptive multisensory interaction: the "MEDIAte" project.

This paper presents an adaptive physical environment that allows children with severe autism to successfully interact with multimodal stimuli, giving them a sense of control of the interaction and, hence, providing them with a sense of agency. This has been an extremely important effort for two main reasons: 1) This user group cannot be typified, hence making the design of an interactive system to fit all the spectrum of individuals a very complex task; 2) each individual PAS (Person on the Autistic Spectrum) user must be able to develop himself within the environment according to his own capacities and potentiality. Qualitative evaluation by psychologists shows very good results and sketches an encouraging future for research on these environments.

Autistic Disorder↗

PubMed2006

Etiologic yield of autistic spectrum disorders: a prospective study.

Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau-Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield.

Adolescent↗

PubMed1999

[Current concept of schizophrenia: state of the art].

Approaches to diagnosing schizophrenia are different. There is a distinct tendency either to narrow the limits of the disease or to expand it, which in some cases leads to a disagreement and even a tendency to disputes. The comprehensive studies conducted in the Mental Health Research Center, Russian Academy of Medical Sciences, have provided an overall notion of the disease in terms of its progression and outcome. The clinical picture of schizophrenia is characterized by obligatory specific disorders, such as autism, reduced energy potential, emotional thinking, and behavioral disorders. Personality changes may be seen as the smoothening of specific personality traits and the appearance of the features that are not inherent to the patients in the past. Schizophernia is also characterized by positive psychopathological syndromes: pseudoneurotic, affective, psychopathy-like, hallucinatory-paranoid and catatonic. A study of 7500 patients with schizophrenia demonstrated that there were clear-cut regularities in the development of the disease, which suggest that there are forms and types in its progression. The study identified 3 forms of development: continuous, recurrent, and attack-like progressive with varying degrees and rates of the process (severe, moderate, and mild). Genealogical and clinicogenetic studies demonstrated accumulation of psychoses and abnormal personalities in the families of probands, manifest and slowly progressive forms of schizophrenia and cases of schizoid psychopathy. Among the wide spectrum of pathogenetic concepts, priority should be given to the dopamine hypothesis, whose main point is accumulation of an excessive amount of dopamine in the brain tissue, especially in the nigrostriatal, mesocortical, and mesolimbic systems. This may lead to activation of dopaminergic brain structures with an increase of dopamine receptors. This hypothesis is confirmed by the neuropathological studies demonstrating a significant increase in the numerical density of the dendritic spines and dendritic trunks in the with layer of the prefrontal cortex. The highest index of the numerical density was observed in young patients with prevalent negative disorders. Inasmuch as there is no correlation of this index with the duration of the disease, it can be concluded that the abundance of synaptical connections is a result of disturbed brain development and a factor predisposing to severe progression of schizophrenia. Treatment modalities are determined by the form and rate of progression of and the pattern of the psychopathological syndrome. Of particular importance is the role of age, somatic state, and individual sensitivity to neuroleptic drugs. Another important factor in the treatment of schizophrenia is a simultaneous or consecutive impact on the psychopathological syndrome and the disease as a whole.

Humans↗

PubMed2006

The Autism-Spectrum Quotient (AQ)--adolescent version.

The Autism Spectrum Quotient (AQ) quantifies autistic traits in adults. This paper adapted the AQ for children (age 9.8-15.4 years). Three groups of participants were assessed: Group 1: n=52 adolescents with Asperger Syndrome (AS) or high-functioning autism (HFA); Group 2: n=79 adolescents with classic autism; and Group 3, n=50 controls. The adolescents with AS/HFA did not differ significantly from the adolescents with autism but both clinical groups scored higher than controls. Approximately 90% of the adolescents with AS/HFA and autism scored 30+, vs. none of the controls. Among the controls, boys scored higher than girls. The AQ can rapidly quantify where an adolescent is situated on the continuum from autism to normality.

Adolescent↗

PubMed2006

Peripheral audition of children on the autistic spectrum.

OBJECTIVE: To determine whether the peripheral audition of a group of children comprehensively diagnosed as being on the autistic spectrum was quantitatively different from that of a matched group of typically developing children. METHODS: Thirty-seven children with autism and an equal number of control participants matched for chronological age within 6 mo were examined by means of behavioral and physiologic measures of auditory function. All participants had normal hearing (thresholds <15 dB HL; 0.25 to 8 kHz) and normal middle ear function by quantitative tympanometry. Conventional behavioral audiometry, a computer-assisted threshold assessment procedure, acoustic middle ear muscle reflex thresholds, and evoked otoacoustic emissions (both transient and distortion product) tests were administered to both groups. RESULTS: No significant differences between children with autism and those developing typically on any behavioral or physiologic measure of peripheral auditory function were found. CONCLUSIONS: There was no evidence of intrinsic differences in the peripheral auditory mechanism of children with autism that would account for the auditory processing disorders and sound sensitivity that are commonly reported in this population.

Acoustic Impedance Tests↗

PubMed2006

Residual language deficits in optimal outcome children with a history of autism.

This study examined whether language deficits persist even in children with optimal outcomes. We examined a group of children with prior diagnoses on the autism spectrum who had IQs in the normal range, were in age-appropriate mainstream classes, and had improved to such an extent that they were considered to be functioning at the level of their typically developing peers. Fourteen such children between the ages of five and nine were matched on age and sex with typically developing children, and were given a battery of 10 language tests to investigate their language abilities. Results indicated that while these children's grammatical capabilities are mostly indistinguishable from their peers, they are still experiencing difficulties in pragmatic and semantic language.

Asperger Syndrome↗