Marko Kielinen

Comorbid Psychiatric Disorders Associated with Asperger Syndrome/High-functioning Autism: A Community- and Clinic-based Study

The present study identifies the prevalence and types of comorbid psychiatric disorders associated with Asperger syndrome (AS)/high-functioning autism (HFA) in a combined community- and clinic-based sample of fifty 9- to 16-year-old subjects using the Schedule for Affective Disorders and Schizophrenia for School-Age Children, Present and Lifetime Version. The level of functioning was estimated using the Children’s Global Assessment Scale. The results support common (prevalence 74%) and often multiple comorbid psychiatric disorders in AS/HFA; behavioral disorders were shown in 44%, anxiety disorders in 42% and tic disorders in 26%. Oppositional defiant disorder, major depressive disorder and anxiety disorders as comorbid conditions indicated significantly lower levels of functioning. To target interventions, routine evaluation of psychiatric comorbidity in subjects with AS/HFA is emphasized.

Autism Spectrum Disorders According to DSM-IV-TR and Comparison With DSM-5 Draft Criteria: An Epidemiological Study

OBJECTIVE The latest definitions of autism spectrum disorders (ASDs) were specified in DSM-IV-TR in 2000. DSM-5 criteria are planned for 2013. Here, we estimated the prevalence of ASDs and autism according to DSM-IV-TR, clarified confusion concerning diagnostic criteria, and evaluated DSM-5 draft criteria for ASD posted by the American Psychiatry Association (APA) in February 2010. METHOD This was an epidemiological study of 5,484 eight-year-old children in Finland, 4,422 (81%) of them rated via the Autism Spectrum Screening Questionnaire by parents and/or teachers, and 110 examined by using a structured interview, semi-structured observation, IQ measurement, school-day observation, and patient records. Diagnoses were assigned according to DSM-IV-TR criteria and DSM-5 draft criteria in children with a full-scale IQ (FSIQ) ≥50. Patient records were evaluated in children with an FSIQ <50 to discover diagnoses of ASDs. RESULTS The prevalence of ASDs was 8.4 in 1,000 and that of autism 4.1 in 1,000 according to DSM-IV-TR. Of the subjects with ASDs and autism, 65% and 61% were high-functioning (FSIQ ≥70), respectively. The prevalence of pervasive developmental disorder not otherwise specified was not estimated because of inconsistency in DSM-IV-TR criteria. DSM-5 draft criteria were shown to be less sensitive in regard to identification of subjects with ASDs, particularly those with Aspergers syndrome and some high-functioning subjects with autism. CONCLUSIONS DSM-IV-TR helps with the definition of ASDs only up to a point. We suggest modifications to five details of DSM-5 draft criteria posted by the APA in February 2010. Completing revision of DSM criteria for ASDs is a challenging task.

Associated Medical Disorders and Disabilities in Children with Autistic Disorder: A Population-based Study

A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated medical disorders or associated disorders of known or suspected genetic origin were found in 12.3 percent, including tuberous sclerosis, Down syndrome, fragile X syndrome, Klinefelter syndrome, XYY syndrome, chromosome 17 deletion, chromosome 46, XX, dup(8)(p) and mitochondriopathy. Other associated medical disorders identified were epilepsy, hydrocephalus, foetal alcohol syndrome and cerebral palsy. Hearing impairments were found in 8.6 percent and severe impairment of vision in 3.7 percent of the individuals with autistic disorder. Medical disorders seem to have a special impact on the genesis of autistic disorder and need to be thoroughly examined in each child with autistic disorder.

Autism in Northern Finland.

Abstract Resent research reports show that autistic spectrum disorders may actually be more common than previously believed. General awareness and clinical knowledge of these disorders have increased, and the criteria in the ICD-10 and the DSM-IV are also now more detailed. The diagnostic criteria and the methods of ascertainment influence the prevalence. The age specific incidence obtained in this study showed the cumulative incidence to be lowest, 6.1 per 10 000, in the oldest age group of 15- to 18-year-old children, and highest, 20.7 per 10 000, in the age group of 5–7 year-olds, when the criteria of the ICD-10 and the DSM-IV were used. In this study, almost 50% of the autistic cases had a tested IQ above 70. The degree of autism, as assessed by the Childhood Autism Rating Scale (CARS), varied from mild autistic features in 8.5% through moderate in 58.5% to severe in 33.0%.

Deficient auditory processing in children with Asperger Syndrome, as indexed by event-related potentials.

Asperger Syndrome (AS) is characterized by normal language development but deficient understanding and use of the intonation and prosody of speech. While individuals with AS report difficulties in auditory perception, there are no studies addressing auditory processing at the sensory level. In this study, event-related potentials (ERP) were recorded for syllables and tones in children with AS and in their control counterparts. Children with AS displayed abnormalities in transient sound-feature encoding, as indexed by the obligatory ERPs, and in sound discrimination, as indexed by the mismatch negativity. These deficits were more severe for the tone stimuli than for the syllables. These results indicate that auditory sensory processing is deficient in children with AS, and that these deficits might be implicated in the perceptual problems encountered by children with AS.

Some aspects of treatment and habilitation of children and adolescents with autistic disorder in Northern-Finland

Hospital records and data on the treatment/habilitation status of 187 children with autism aged 3–18 years were gathered from Northern Finland. The treatment programs and therapies varied, depending on the trained staff available. One-hundred and fifty-two (82.9%) children and adolescents with autism received more than one therapeutic intervention or specific training program. The most common therapies were physiotherapy as well as speech, occupational and music therapy. 43.9% of the children and adolescents with autism received specific training according to TEACCH (Treatment and Education of Autistic and related Communication-Handicapped Children), 10.2% according to Lovaas and 30.5% according to the Portage program. Antiepileptic medication had been prescribed to 23.9% and psychopharmacological interventions to 14.9% of the individuals with autistic disorder (AD). One hundred and seventy-eight subjects out of 187 showed some improvement on the Childhood Autism Rating Scale (CARS), even if no statistically significant difference was found between the outcome of the available habilitation methods.

Autism in Northern Finland : a prevalence, follow-up and descriptive study of children and adolescents with autistic disorder

Abstract Objectives. The aims of this study were to estimate the prevalence of autism in Northern Finland and to assess retro-spectively the associations of autistic disorder with identified medical conditions and additional disabilities in this defined population of children and adolescents with autistic disorder. In order to find out the factors influencing the outcome, the methods of treatment/habilitation and the interventions used were studied in detail. The last aim was to elicit reliable information for decision-makers as well as ideas for giving support and, because of the presumed better outcome, saving resources in the long run. (Int J Circumpolar Health 2005; 64(1):99–100)

Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised

Background: Twin and family studies have indicated a strong genetic component in autism spectrum disorders, and genetic studies have revealed highly heterogeneous risk factors. The range and severity of the symptom presentation also vary in the spectrum. Thus, symptom-based phenotypes are putatively more closely related to the underlying biology of autism than the end-state diagnosis. Methods: We performed principal component analysis on Autism Diagnostic Interview-Revised algorithm for 117 Finnish families and 594 families from the Autism Genetic Research Exchange (AGRE). The resulting continuous component scores were used as quantitative phenotypes in family-based association analysis. In addition, K-means clustering was performed to cluster and visualize the results of the PCA. Unaffected siblings were included in the study. Results: The components were interpreted as Social Component (SC), communication component and Restricted and Stereotyped Behavior Component (RSBC). K-means clustering showed that, especially in SC, the range of the symptom severity was increased by the siblings. The association of neuroligin 1 with SC was increased, compared to a previous study where only the end-state diagnosis was used. In RSBC, the range of the symptom severity of siblings overlapped greatly with that of patients, which could explain why no association of reelin was found in previous studies in which only the end-state diagnosis was used, but a significant association of reelin with RSBC was now found in the Finnish families (Bonferroni-corrected p=0.029 for rs362644). Although, the Finnish sample is isolated and genetically very homogeneous, compared to the heterogeneous background of AGRE families, many single-nucleotide polymorphisms in reelin, showed modest association with RSBC in the AGRE sample, too. Conclusions: This study demonstrates how the quantitative phenotypes can affect the association analyses, and yields further support to the use of siblings in the study of complex neuropsychiatric disorders.

Intervention,treatmentand care in autistic disorder. Challenging case reports from northern Finland

Abstract Objectives. Autism produces characteristic patterns of behaviour, and individuals with autistic disorder (AD) have a lot in common in terms of behaviour and mannerisms. Individuals with autism, however, also have their own overall personalities, which both underlie and interact with their autism. This article focuses on challenges of identifying AD and delivering appropriate services in face of long distances and limited resources. Study design. This study is a retrospective descriptive chart review and cases series. Hospital records and data on the treatment/habilitation status of 187 children and adolescents with autistic disorder aged 3–18 years were evaluated from Northern Finland. Methods. Nine subjects, representing the age group of 9-to 17-year-olds, did not show any improvement on the Childhood Autism Rating Scale (CARS) and in the clinical examination during the follow-up period 1990–97. In this study, these children and adolescents with AD were evaluated more carefully. Results. The treatment programs and therapies varied, depending on the availability of trained staff. There were various reasons for the absence of the most suitable treatment, or habilitation, at the individual level. The difficulties also varied over time and between individuals. In addition, after the follow-up period, four of the nine (55.6%) individuals showed more positive outcome when the level of autism had been taken into account in the planning of the intervention for, treatment and care of AD. Conclusion. The possible reasons for poor outcome included the level of mental disability, impairments of speech and communication, lack of knowledge of autism at the municipal level, long distance to services, severe epilepsy, additional medical diagnosis, parental acceptance of the child’s autism and late start of the intervention for, or habilitation of autism. (Int J Circumpolar Health 2005; 64(1):65–76)