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PubMed2005

Autistic spectrum disorders.

Autistic spectrum disorders is a complex developmental disorder with social and communication dysfunction at its core. It has a wide clinical spectrum with a common triad of impairments -- social communication, social interaction and social imagination. Even mild or subtle difficulties can have a profound and devastating impact on the child. To be able to provide suitable treatments and interventions the distinctive way of thinking and learning of autistic children has to be understood. The core areas of social, emotional, communication and language deficits have to be addressed at all levels of functioning. The important goals of assessment include a categorical diagnosis of autism that looks at differential diagnosis, a refined precise documentation of the child's functioning in various developmental domains and ascertaining presence of co-morbid conditions. The interventions have to be adapted to the individual's chronological age, developmental phase and level of functioning. The strategies of curriculum delivery and teaching the child with autism is distinctive and includes presence of structure to increase predictability and strategies to reduce arousal of anxiety.

Age Factors↗

PubMed2002

[Specificity hypothesis of a theory of mind deficit in early childhood autism].

OBJECTIVES: In order to test the hypothesis that a theory of mind deficit is specific for autism, the present study presents the first replication of the Sally-Anne test (Baron-Cohen, Leslie & Frith, 1985) in the German-speaking countries. METHODS: The Sally-Anne test was administered to 16 autistic, 24 probands with Down's syndrome and 20 normal preschool prosands. The intelligence of the autistic group and that with Down's syndrome was measured by the CPM/SPM. In addition, the ADI-R was used with the principal caregivers of the autistic and Down's syndrome subjects. RESULTS: With regard to the clinical diagnosis, theory of mind deficit turned out to be not specific for autism. Six of 16 (37.5%) autistic subjects passed the theory of mind tasks. Thus performance in the autistic group surpassed that of both control groups. Out of 16 autistic subjects, autism could be confirmed in only 8 on the basis of the ADI-R diagnostic criteria, only one of whom showed a theory of mind. The autistic individuals with a theory of mind differed significantly in their mean IQ from those without this ability. CONCLUSIONS: Spectrum and specificity of a theory of mind deficit in autism remain controversial. For further research it seems important to administer the ADI-R during the diagnostic process. The findings suggest that the clinical diagnosis of autism is not precise enough to distinguish between autism and nonautistic mental handicap.

Adolescent↗

PubMed1977

[Features of schizoid states, constitutional and acquired].

The authors conducted a clinical comparison of schizoid traits of asthenic pole in 2 nozological heterogenic groups of patients. In one group they were of a constitutional character (the group of effusive schizoids), in the other--they were formed following a schizophrenic attack (the group of patients with mildly progressive schizophrenia in the state of remission of asthenic type). It was possible to demonstrate significant differences between the patients of these groups not only in specific schizophrenic traits (autism, the emotional sphere, social adaptation), but in their development. These differences testify to the existence of constitutionally conditioned stable schizoid states and the necessity to distinguish them from acquired psychopathic traits of the schizoid spectrum.

Emotions↗

PubMed1999

Imaging of autism: lessons from the past to guide studies in the future.

OBJECTIVE: To review the scientific literature on the imaging of autism with a view to understanding how imaging can contribute to future studies. METHODS: Medline was searched, and bibliographies from retrieved articles were reviewed. Inclusion criteria were a diagnosis of autism according to Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria, third edition or later, and a control group without autism. RESULTS: The field suffers from a lack of replication studies and poor methodology in terms of not controlling for confounding variables. Enlarged brain size, particularly in the temporoparietal brain region, and decreased size of the posterior corpus callosum are the only findings that have been independently replicated. CONCLUSION: Future imaging studies should attempt to investigate more homogeneous subgroups of patients such as those with "the lesser variant of PDD" and high-functioning patients with PDD who do not have comorbid medical conditions. A different approach, examining the individual behaviours that constitute the PDD spectrum and exploring these separately along with other associated variables such as neuropsychological deficits, structural and functional brain abnormalities, and genetic information could help identify biological mechanisms that do not follow diagnostic boundaries.

Autistic Disorder↗

PubMed2002

Mobius sequence--a Swedish multidiscipline study.

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.

Abducens Nerve Diseases↗

PubMed2005

Psychiatric telephone interview with parents for screening of childhood autism - tics, attention-deficit hyperactivity disorder and other comorbidities (A-TAC): preliminary reliability and validity.

BACKGROUND: Reliable, valid and easily administered screening instruments would greatly facilitate large-scale neuropsychiatric research. AIMS: To test a parent telephone interview focused on autism - tics, attention-deficit hyperactivity disorder (ADHD) and other comorbidities (A-TAC). METHOD: Parents of 84 children in contact with a child neuropsychiatric clinic and 27 control children were interviewed. Validity and interrater and test - retest reliability were assessed. RESULTS: Interrater and test - retest reliability were very good. Areas under receiver operating characteristics curves between interview scores and clinical diagnoses were around 0.90 for ADHD and autistic spectrum disorders, and above 0.70 for tics, learning disorders and developmental coordination disorder. Using optimal cut-off scores for autistic spectrum disorder and ADHD, good to excellent kappa levels for interviews and clinical diagnoses were noted. CONCLUSIONS: The A-TAC appears to be a reliable and valid instrument for identifying autistic spectrum disorder, ADHD, tics, learning disorders and developmental coordination disorder.

Adolescent↗

PubMed2003

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.

The clinical significance of an interstitial duplication of (15)(q11-q13) remains unclear and controversial. The reported phenotypes vary widely and appear to be influenced by the parent of origin of the duplication. Aside from cases of dup(15) reported with autism, the behavioral phenotype of individuals with dup(15) has not been described. We present three families, two with intrachromosomal duplication (15)(q11-q13) ascertained because of developmental delay in a relative. Two families show clear evidence of multigenerational maternal inheritance. The individuals discussed in this paper have minor anomalies and developmental delays. In addition, we describe a behavioral phenotype which often includes attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder. Responses to medications used to manage these behaviors are also described, including a positive response to methylphenidate and a poor response to fluoxetine. The duplication in each presenting individual, and available family members, was investigated utilizing cytogenetic and molecular techniques including high resolution cytogenetics, fluorescence in situ hybridization (FISH), DNA methylation studies, and quantitative fluorescence PCR. High resolution cytogenetic techniques alone missed some cases, demonstrating the need to confirm results with other methods.

Child↗

PubMed2006

[Autistic spectrum disorders in very young children: issues in the diagnostic process].

The diagnosis of very young children with autistic spectrum disorders and differentiating the disorder from mental retardation are difficult in the early years. Some efforts to improve diagnostic practice are reviewed. The usefulness of standardized behavioural rating scales, observation of core deficits in communication and play and parental reports are discussed in view of the author's experience with 13 children (2-4 years of age). Even in the case of diagnostic uncertainty, focussing early intervention on core symptoms of autism and supporting responsive parent-child interactions is recommended in order to prevent further social isolation of children with autistic features.

Autistic Disorder↗

PubMed1996

Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the full mutation in the fra-X group obtained a diagnosis of the schizophrenia-spectrum (schizophrenia, schizophreniform disorder, and schizoaffective disorder). Carriers of the fra-X full mutation had considerably lower IQ than carriers of the fra-X premutation. There was a negative correlation between length of CGG repeats and IQ which failed to reach significance in both groups of fra-X carriers. Psychiatric morbidity was not restricted to carriers of the fra-X full mutation only but was also present in normal intelligent premutation carriers. Furthermore the age of onset of psychiatric morbidity in both groups of mothers of fra-X children as well as the group of mothers with autistic children was much earlier than the age when mental retardation had been diagnosed in their children. Increased psychosocial burden of raising a developmentally retarded child and/or feelings of guilt of being a fra-X carrier can therefore not fully explain our findings (three-fold higher frequencies of affective disorders compared to mothers from the general population).

Adult↗

PubMed2004

[A magnetoencephalographic study of generalised developmental disorders. A new proposal for their classification].

INTRODUCTION: Autistic spectrum disorders (ASD) is a term that is not included in DSM IV or in ICD 10, which are the diagnostic tools most commonly used by clinical professionals but can offer problems in research when it comes to finding homogenous groups. DEVELOPMENT: From a neuropaediatric point of view, there is a need for a classification of the generalised disorders affecting development and for this purpose we used Wing's triad, which defines the continuum of the autistic spectrum, and the information provided by magnetoencephalography (MEG) as grouping elements. Specific generalised developmental disorders were taken as being those syndromes that partially expressed some autistic trait, but with their own personality so that they could be considered to be a specific disorder. ASD were classified as being primary, cryptogenic or secondary. The primary disorders, in turn, express a continuum that ranges from Savant syndrome to Asperger's syndrome and the different degrees of early infantile autism. MEG is a functional neuroimaging technique that has enabled us to back up this classification.

Child Development Disorders, Pervasive↗

PubMedDate not supplied

Follow-up of children attending infant language units: outcomes at 11 years of age.

A large cohort of 242 children who had been attending infants language units at 7 years of age was followed up when the children were in their final year of primary school. Two hundred (83%) of the children were reassessed at 11 years of age on a wide battery of language and literacy measures, on a test of non-verbal ability, an autism checklist and a communication checklist. In total, 89% of children still scored < 1 SD from the mean on at least one test of language and the majority (63%) scored poorly on three or more assessments demonstrating widespread difficulties. Compared with non-verbal abilities at 7 years of age, a large proportion of the cohort also performed poorly on performance IQ subtests (28%). A further 10 children scored highly on a checklist for autistic spectrum disorder. Thus, only 115 (58%) children could be said to meet criteria for specific language impairment. A small group of 16 children appeared to have entirely resolved their difficulties. These outcomes and their implications for education and long-term impact of the disorder are discussed.

Autistic Disorder↗

PubMed2006

Health-related quality of life in parents of school-age children with Asperger Syndrome or High-Functioning Autism.

BACKGROUND: The estimated prevalence rate of Pervasive Developmental Disorders (PDD) in children is 6 per 1.000. Parenting children who are intellectually impaired and have PDDs is known to be linked to the impaired well-being of the parents themselves. However, there is still little available data on health-related quality of life (HRQL) in parents of children with Asperger Syndrome (AS) and High-Functioning Autism (HFA), or other PDD diagnoses in children of normal intelligence. The present study aimed to evaluate aspects of HRQL in parents of school-age children with AS/HFA and the correlates with child behaviour characteristics. METHODS: The sample consisted of 31 mothers and 30 fathers of 32 children with AS/HFA and 30 mothers and 29 fathers of 32 age and gender matched children with typical development. Parental HRQL was surveyed by the use of the 12 Item Short Form Health Survey (SF-12) which measures physical and mental well-being. The child behaviour characteristics were assessed using the structured questionnaires: The High-Functioning Autism Spectrum Screening Questionnaire (ASSQ) and The Strengths and Difficulties Questionnaire (SDQ). RESULTS: The mothers of children with AS/HFA had lower SF-12 scores than the controls, indicating poorer physical health. The mothers of children with AS/HFA also had lower physical SF-12 scores compared to the fathers. In the AS/HFA group, maternal health was related to behaviour problems such as hyperactivity and conduct problems in the child. CONCLUSION: Mothers but not fathers of children with AS/HFA reported impaired HRQL, and there was a relationship between maternal well-being and child behaviour characteristics.

Adolescent↗

PubMed1989

An epidemiological study of infantile autism in a French department (Rhône): a research note.

In a French Department (Rhône), the prevalence of infantile autism was found to be 10.8 per 10,000 in the 5-9 age group, using broad operational criteria. The prevalence decreases to 5.1 per 10,000 when another set of criteria, similar to DSM-III, is used. The boy/girl sex ratios for these two sets of criteria were 2.1:1 and 2.3:1 respectively. The use of DSM-III turned out to be problematic for taking into account a broad spectrum of early psychotic disorders, autistic-like, yet more polymorphous. A subdivision concerning the existence of associated major neurological anomalies has appeared promising but requires finer validation.

Autistic Disorder↗

PubMed2006

[Autism and neuroscience].

The understanding of autism has improved with neurosciences, especially with genetics, molecular biology and cerebral neuroimaging. This trouble looks much more heterogenous than expected, from a clinical and an etiological point of view as well. No clear pathopsychological model about the syndromes of the autistic spectrum can so far be proposed but several scientific breakthroughs seem interesting.

Autistic Disorder↗

PubMed2000

Story-telling ability in children with autism or Asperger syndrome: a window into the imagination.

BACKGROUND: Autism spectrum conditions are diagnosed on the basis of impaired imagination. The present study used a totally free story-telling method to assess if narratives produced by children with autism or Asperger Syndrome (AS) contained fewer imaginative events. METHOD: In Condition 1, children were offered an imaginary theme and asked to elaborate a story. In Condition 2, they were offered a reality-based theme with the same instructions. Comparison groups included 13 children with autism, 14 children with AS, 15 children with moderate learning difficulties (MLD), and 14 normally developing children. The non-autistic controls had a verbal mental age (VMA) either equivalent or lower than the autism and AS groups. RESULTS: Both the children with autism and AS were less likely to introduce imaginary elements into their stories in Condition 2, though the children with AS were more able to produce imaginative narratives than children with autism in Condition 1. CONCLUSIONS: This study provides experimental evidence for imaginative impairments in story-telling in children with autism spectrum conditions. These are discussed in terms of two cognitive theories: executive dysfunction and theory of mind. LIMITATIONS: In this study it was not possible to match the children with autism and AS with each other on VMA, as the children with autism were not as high-functioning. Future research could examine VMA matched groups of autism and AS.

Asperger Syndrome↗

PubMed2005

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Tuberous sclerosis complex (TSC) is a severe autosomal-dominant disorder characterized by the development of benign tumors (hamartomas) in many organs. It can lead to intellectual handicap, epilepsy, autism, and renal or heart failure. An inactivating mutation in either of two tumor-suppressor genes-TSC1 and TSC2-is the cause of this syndrome, with TSC2 mutations accounting for 80-90% of all mutations. Molecular diagnosis of TSC is challenging, since TSC1 and TSC2 consist of 21 and 41 coding exons, respectively, and the mutation spectrum is very heterogeneous. Here we report a new approach for detecting mutations in TSC: a denaturing gradient gel electrophoresis (DGGE) analysis for small TSC2 mutations, a multiplex ligation-dependent probe amplification (MLPA) analysis for large deletions and duplications in TSC1 or TSC2, and a long-range PCR/sequencing-based analysis for small TSC1 mutations. When applied in this order, the three methods provide a new sensitive and time- and cost-efficient strategy for the molecular diagnosis of TSC. We analyzed 65 Danish patients who had been clinically diagnosed with TSC, and identified pathogenic mutations in 51 patients (78%). These included 36 small TSC2 mutations, four large deletions involving TSC2, and 11 small TSC1 mutations. Twenty-eight of the small mutations are novel. For the missense mutations, we established a functional assay to demonstrate that the mutations impair TSC2 protein function. In conclusion, the strategy presented may greatly help small- and medium-sized laboratories in the pre- and postnatal molecular diagnosis of TSC.

Adolescent↗

PubMed2005

MeCP2 dysfunction in humans and mice.

Rett syndrome is a leading cause of postnatal neurodevelopmental regression. Rett syndrome is caused by mutations in MECP2, the gene encoding methyl-CpG binding protein 2. In up to 96% of all classic cases, Rett syndrome cases are caused by mutations or deletions in MECP2. The phenotypic spectrum of MECP2 mutations is broad and includes mental retardation with or without seizures, Angelman syndrome-like phenotype, and autism. Mecp308/Y mice carry a truncating mutation and display many of the features seen in Rett syndrome. Social behavior abnormalities and impaired social interactions in Mecp308/Y mice suggest that MeCP2 plays a role in modulating the activity of genes and neurons important for social interactions. Mice that overexpress MeCP2 at twice the endogenous levels develop a progressive neurologic disorder, demonstrating that MeCP2 levels are tightly regulated and raising the possibility that duplications or gain-of-function mutations of MECP2 might underlie some cases of neurodevelopmental X-linked disorders.

Animals↗

PubMed2000

Assessment in multisite randomized clinical trials of patients with autistic disorder: the Autism RUPP Network. Research Units on Pediatric Psychopharmacology.

Assessment of autistic disorder (autism) symptoms, primary and secondary, poses more challenging problems than ordinarily found in multisite randomized clinical trial (RCT) assessments. For example, subjects may be uncommunicative and extremely heterogeneous in problem presentation, and current pharmacological treatments are not likely to alter most core features of autism. The Autism Research Units on Pediatric Psychopharmacology (RUPP Autism Network) resolved some of these problems during the design of a risperidone RCT in children/adolescents. The inappropriateness of the usual anchors for a Clinical Global Impression of Severity (CGI-S) was resolved by defining uncomplicated autism without secondary symptoms as a CGI-S of 3, mildly ill. The communication problems, compromising use of the patient as an informant, were addressed by several strategies, including careful questioning of care providers, rating scales, laboratory tests, and physical exams. The broad subject heterogeneity requires outcome measures sensitive to individual change over a wide spectrum of treatment response and side effects. The problems of neuropsychologically testing nonverbal, lower functioning, sometimes noncompliant subjects requires careful instrument selection/adaptation and flexible administration techniques. The problems of assessing low-end IQs, neglected by most standardized test developers, was resolved by an algorithm of test hierarchy. Scarcity of other autism-adapted cognitive and neuropsychological tests and lack of standardization required development of a new, specially adapted battery. Reliability on the Autism Diagnostic Interview (currently the most valid diagnostic instrument) and other clinician instruments required extensive cross-site training (in-person, videotape, and teleconference sessions). Definition of a treatment responder required focus on individually relevant target symptoms, synthesis of possible modest improvements in many domains, and acceptance of attainable though imperfect goals. The assessment strategy developed is implemented in a RCT of risperidone (McDougle et al., 2000) for which the design and other methodological challenges are described elsewhere (Scahill et al., 2000). Some of these problems and solutions are partially shared with RCTs of other treatments and other disorders.

Antipsychotic Agents↗