| 1. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.
- 2007
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 49:4, s. 280-288
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Tidskriftsartikel (refereegranskat)abstract
- As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
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| 2. |
- Johansson, Maria E I, 1961, et al.
(författare)
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Autism spectrum disorders and underlying brain pathology in CHARGE association.
- 2006
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Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 48:1, s. 40-50
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Tidskriftsartikel (refereegranskat)abstract
- The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.
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| 3. |
- Nygren, Gudrun, 1957, et al.
(författare)
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The Swedish version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric properties.
- 2009
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Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 39:5, s. 730-741
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Tidskriftsartikel (refereegranskat)abstract
- Psychometric properties of the Diagnostic Interview for Social and Communication Disorders schedule (DISCO) have only been studied in the UK. The authorised Swedish translation of the tenth version of the DISCO (DISCO-10) was used in interviews with close relatives of 91 Swedish patients referred for neuropsychiatrical assessment. Validity analysis compared DISCO-10-algorithm diagnoses with clinical diagnoses and with Autism Diagnostic Interview Revised (ADI-R) algorithm diagnoses in 57 cases. Good-excellent inter-rater reliability was demonstrated in 40 cases of children and adults. The criterion validity was excellent when compared with clinical diagnoses and an investigator-based diagnostic interview. The DISCO-10 has good psychometric properties. Advantages over the ADI-R include valuable information of the broader autism phenotype and co-existing problems for clinical practice and research.
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| 4. |
- Strömland, Kerstin, 1934, et al.
(författare)
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CHARGE association in Sweden: malformations and functional deficits.
- 2005
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Ingår i: American journal of medical genetics. Part A. - : Wiley. - 1552-4825. ; 133:3, s. 331-9
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Tidskriftsartikel (refereegranskat)abstract
- CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
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| 5. |
- Strömland, Kerstin, 1934, et al.
(författare)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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Tidskriftsartikel (refereegranskat)abstract
- Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.
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| 6. |
- Billstedt, Eva, 1961, et al.
(författare)
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Autism after adolescence: population-based 13- to 22-year follow-up study of 120 individuals with autism diagnosed in childhood.
- 2005
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Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 35:3, s. 351-360
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Prospective population-based follow-up study of 120 individuals with autism followed from childhood to adulthood. METHODS: Individuals with autism, diagnosed in childhood, were followed prospectively for a period of 13-22 years and re-evaluated at ages 17-40 years. The instruments used at follow-up were the DISCO, WAIS-R, WISC-III, Vineland Adaptive Behavior Scales, psychiatric-medical examination and GAF-scale. A set of criteria was used for the classification of outcomes, taking into consideration employment, higher education/vocational training, independent living and peer relations. RESULTS: Six of the 120 (5%) had died at the time of follow-up, and six declined participation. Overall outcome was poor in 78% of cases. Only four individuals were independent albeit leading fairly isolated lives. Childhood IQ-level was positively correlated with better adult outcome, as was the existence of some communicative phrase speech at age six years. CONCLUSIONS: Children with autism as diagnosed in the 1960s, 1970s, and 1980s may have an even worse psychosocial outcome than previously believed.
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| 7. |
- Billstedt, Eva, 1961, et al.
(författare)
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Autism in adults: symptom patterns and early childhood predictors. Use of the DISCO in a community sample followed from childhood.
- 2007
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Ingår i: Journal of Child Psychology and Psychiatry, and Allied Disciplines. - : Wiley. - 0021-9630 .- 1469-7610. ; 48:11, s. 1102-1110
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Few studies have looked at the very long-term outcome of individuals with autism who were diagnosed in childhood. METHODS: A longitudinal, prospective, community-based follow-up study of adults who had received the diagnosis of autism (classic and atypical) in childhood (n = 105) was conducted. A structured interview (the Diagnostic Interview for Social and COmmunication disorders--the DISCO) was used in order to evaluate symptoms and symptom patterns 13-22 years after original diagnosis. Childhood measures, including IQ-level at time of childhood diagnosis and communicative speech registered before age 5 years, were studied in relation to the presence of autism symptoms at follow-up. RESULTS: The classical and atypical autism groups were fairly homogeneously impaired in terms of symptoms in the social interaction category whereas other common childhood autism symptoms, including maladaptive and stereotyped behaviours, were more variable in the study group at follow-up. Odd responses to sensory stimuli were still extremely common. Speech before 5 years of age, IQ, gender, diagnosed medical disorder and onset of epilepsy before 5 years were variables that correlated to outcome on the DISCO algorithm for autistic spectrum disorders (Wing & Gould, 1979) concerning style and quality of social interaction, communication style and pattern of self-chosen activities. CONCLUSIONS: Social interaction problems were still present in the vast majority of adults with autism/atypical autism, but behavioural impairments were much more variable in adulthood. Almost all cases were reported to show persistent perceptual problems. Certain childhood measures were found to prospectively predict adult social interaction style, communication type, and pattern of self-chosen activities, which still met diagnostic criteria for autism/atypical autism in adulthood.
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| 8. |
- Billstedt, Eva, 1961
(författare)
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Children with autism grow up. Use of the DISCO (Diagnostic Interview for Social and COmmunicative disorders) in population-based cohorts
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Objectives: Examine the prevalence and outcome of autism in child and adult population cohorts using the Diagnostic Interview for Social and COmmunication disorders (DISCO). Method: The Faroe Islands school population aged 7-18 years (n=7689) was screened for autism and cases raising suspicion were examined and tested. Parents were interviewed using the DISCO. Clinical diagnoses were established on the basis of all available information. Prevalence rates for autistic disorder, atypical autism and Asperger syndrome were calculated. The autism outcome was looked at in 3 partly overlapping population cohorts of individuals (n=120) diagnosed in childhood as suffering from autism or atypical autism from the region of Göteborg, Sweden. They were re-examined at ages 17-40 years, 13-22 years after diagnosis. Parents and carers were interviewed using the DISCO. Strict operationalised criteria for outcome were used. Diagnostic stability over time was analysed. Symptom profiles on the basis of the DISCO were reviewed and background factors contributing to outcome in adult age were assessed. Aspects of Quality of Life were examined. Results: The prevalence of autism, atypical autism and Asperger syndrome in the Faroe Islands child population was 0.56%. The boy:girl ratio was 4.8:1. The DISCO was very useful in eliciting the information needed for a correct clinical diagnosis. The overall outcome of autism in the Göteborg population was psychosocially poor with few adults leading independent lives. Mortality was high (5%) and seemed to be associated with medical disorders including epilepsy. All but one of the individuals included in the follow-up study (n=108) still met criteria for autism or atypical autism. A small subgroup showed better psychosocial outcomes. They had all had some spoken language at age 3 years. Those with a childhood diagnosis of atypical autism tended to be diagnosed with autism at follow-up. The correspondence between clinical diagnoses and DISCO algorithm diagnoses was very good. The level of intellectual functioning showed a significant shift downwards. A subgroup deteriorated in adolescence. According to DISCO results, social, communication, and sensory impairment problems typical of the childhood period were still present at very high rates in late adolescence and adult life. Quality of Life seemed to be relatively good in some cases in spite of the poor overall psychosocial outcome. Early communication skills and IQ predicted aspects of outcome. Discussion: The DISCO is a useful instrument for diagnosis and follow-up of individuals with autism spectrum conditions. Combined with clinical examination of the individuals themselves, the DISCO yields important diagnostic and symptom information needed for appropriate diagnosis in childhood and for clinical review of diagnosis and symptom load in adolescence and adult life. The prevalence of autism in the Faroe Islands was very similar to that reported for autism in other parts of the world. The outcome of autism in the Göteborg cohort was psychosocially very poor, but life quality did not generally appear to be at a correspondingly low level. However, an important minority had very poor quality of life. The Faroe Islands cohort included relatively much higher functioning individuals than did the Göteborg group, which included cases diagnosed 15-30 years ago. The Faroe Islands cohort may have a very different prognosis, and the outcome findings from the Göteborg study can only be generalized, if at all, to other populations with autism diagnosed before the 1990s, when diagnostic concepts and criteria were more narrow than they are today. Conclusions: Autism is not a very rare disorder. Outcome in severe cases with intellectual impairment is psychosocially poor (with little or no independence in adult life), but life quality can be good even in such cases. The DISCO is a very helpful instrument for diagnosis in childhood and in adult life and can be used for follow-up of symptom profiles and problem assessment before and after adolescence.
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| 9. |
- Cederlund, Mats, 1962, et al.
(författare)
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Asperger syndrome and autism: a comparative longitudinal follow-up study more than 5 years after original diagnosis.
- 2008
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Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 38:1, s. 72-85
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Tidskriftsartikel (refereegranskat)abstract
- Prospective follow-up study of 70 males with Asperger syndrome (AS), and 70 males with autism more than 5 years after original diagnosis. Instruments used at follow-up included overall clinical assessment, the Diagnostic Interview for Social and Communication Disorders, Wechsler Intelligence Scales, Vineland Adaptive Behavior Scales, and Global Assessment of Functioning Scale. Specific outcome criteria were used. Outcome in AS was good in 27% of cases. However, 26% had a very restricted life, with no occupation/activity and no friends. Outcome in the autism group was significantly worse. Males with AS had worse outcomes than expected given normal to high IQ. However, outcome was considerably better than for the comparison group of individuals with autism.
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| 10. |
- Danielsson, Susanna, 1964, et al.
(författare)
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Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood.
- 2005
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Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 46:6, s. 918-923
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Little is known about the long-term outcome of epilepsy in autism and the epilepsy characteristics of adults with autism. This prospective population-based study was conducted in an attempt to point out differences on a group basis between adults with autism with or without epilepsy, and to describe the occurrence, the seizure characteristics, and the outcome of epilepsy in autism. METHODS: One hundred eight of 120 individuals with autism diagnosed in childhood and followed up prospectively for a period of 13-22 years were reevaluated at ages 17-40 years. As adults, the majority had mental retardation and autistic disorder or autistic-like condition. Interviews were performed with the caretakers of 42 of 43 individuals with a history of epilepsy, and their medical records were reviewed. RESULTS: Adults with autism and mental retardation constituted a severely disabled group. On a group basis, both the cognitive level and the adaptive behavior level were lower in the epilepsy group than in the nonepilepsy group (p<0.05). In all, 38% had epilepsy. One third had epilepsy onset before age 2 years. Remission of epilepsy was seen in 16%. Partial seizures with or without secondarily generalized seizures were the dominating seizure type. CONCLUSIONS: In a community sample of individuals with autism followed up from childhood through to adult age, one of three had epilepsy since childhood/adolescence. Severe mental retardation and autism are significantly associated with epilepsy, especially in female patients. Seizure frequency has a great impact on the individuals' lives. Specialist medical care is needed in this severely communication-disabled population.
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