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S Steffenburg

Publications and source records attributed to S Steffenburg.

At least 19 recordsLinked to original sources
PubMed2000

Children with septo-optic dysplasia - how to improve and sharpen the diagnosis.

The data in this article are based on investigations performed in 25 children with suspected septo-optic dysplasia (SOD). There are many signs and methods that help in the diagnosis of SOD. In particular, the ocular fundus, abnormalities of the hypothalamo-pituitary axis and other midline brain structures should be described. In order to achieve a more holistic and functional diagnosis, the degree of neurological, neuropsychiatric and psychological involvement should also be stated. It has been suggested that SOD is associated with autosomal recessive inheritance, and it can be speculated that it is the result of genetic and environmental influences early in gestation. An early diagnosis can favourably influence the outcome of the affected child.

Blindness↗
PubMed1996

Psychiatric disorders in children and adolescents with mental retardation and active epilepsy.

OBJECTIVE: To assess the prevalence and types of psychiatric disorders in a representative sample of school-age children with the combination of mental retardation (MR) and active epilepsy. SUBJECTS AND METHODS: Ninety-eight children were identified with MR and active epilepsy in a population-based study from Göteborg, Sweden, which has a general population at risk of 48873 children. They were born between 1975 and 1986 and were 8 to 16 years old at the time of psychiatric examination. Five children had died, 3 had parents who declined participation, and 90 were clinically examined. RESULTS: Fifty-three children (59%) had at least 1 psychiatric diagnosis, and the conditions in 30 (33%) could not be classified because of profound severe MR. Twenty-four children (27%) had autistic disorder, and another 10 (11%) had an autisticlike condition. The combination of MR, active epilepsy, and autism or an autisticlike condition occurred at a rate of 0.07% in the general population. The most common seizure types in the group with autism or an autisiclike condition were complex partial, atypical absence, myoclonic, and tonic-clonic. CONCLUSIONS: Children with MR and active epilepsy suffered from a psychiatric disorder in a majority of those cases in which the children had enough skills and mobility to exhibit behavioral and emotional problems. Many such problems had been undiagnosed despite parental concern and the conviction that the psychiatric problems were the most burdensome in many cases. Neurologists and psychiatrists need to develop better programs for the adequate management of psychiatric disorders in this population.

Adolescent↗
PubMed1996

Maternal origin of inv dup(15) chromosomes in infantile autism.

Six male patients with infantile autism and an extra inverted duplicated chromosome 15[inv dup(15)] were reported in a previous study. These patients had four copies of the chromosome region 15pter-q13, or an inv dup(15)(pter-->q13; q13-->pter). In this new study, DNA from the families of four of the patients were analysed using Southern based RFLPs and microsatellite polymorphisms from the region. In all four cases the inv dup(15) chromosome was of maternal origin. Furthermore, the data suggests that it originated in the maternal meiotic process rather than in an early mitosis in the developmental process of the embryo. The extra chromosome contained material from both of the maternally derived 15-chromosomes. Based on the molecular data presented here, a model for the origin of chromosome markers of this type is proposed.

Abnormalities, Multiple↗
PubMed1996

Autism in Angelman syndrome: a population-based study.

The aim of this study was to examine the prevalence of angelman syndrome in prepubertal school-aged children and analyze its comorbidity with autistic disorder. A clinical/psychiatric evaluation of a population-based sample of 6- to 13-year-old mentally retarded children with active epilepsy was performed. Four individuals in a total population of almost 49,000 children conformed to the clinical diagnosis of Angelman syndrome. Two of these had a typical microdeletion at chromosome 15q11-13. The minimum prevalence of Angelman syndrome was estimated at 0.008% (1: 12,000) in the examined age group. All 4 children with Angelman syndrome met full behavioral criteria for the diagnosis of autistic disorder/childhood autism. It is concluded that Angelman syndrome is uncommon, but more frequent than previously estimated. The diagnosis should be considered in all patients with combined autistic disorder, severe mental retardation, and epilepsy. The implications of the possible association of Angelman syndrome and autism are discussed.

Adolescent↗
PubMed1992

Siblings and parents of children with autism: a controlled population-based study.

The siblings and parents of 35 children with infantile autism/autistic disorder were compared with those of children with deficits in attention, motor control and perception (DAMP) and of normal children for reported speech and language problems, reading and spelling problems, social deficits and psychiatric disorders. Children with autism tended more often to be the first and only child and there was some support for genetic stoppage in this group. Learning disorders were equally common among siblings and parents of the autism and normal groups, but less common compared with the DAMP group. Asperger syndrome was more common among first-degree relatives of children with autism compared with normal children. There was a tendency for schizo-affective disorder to be more common among mothers of children with autism. The findings are discussed in the context of a genetic model for the development of autism.

Autistic Disorder↗
PubMed1991

Autism associated with marker chromosome.

Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.

Adolescent↗
PubMed1991

Neuropsychiatric assessment of children with autism: a population-based study.

Thirty-five children with autistic disorder and 17 with autistic-like conditions underwent an exhaustive neurobiological evaluation, and the findings were contrasted with those obtained from various comparison groups. Almost 90 per cent of the children with autistic disorder and autistic-like conditions had major indications of brain damage or dysfunction. Some of those who did not show such abnormalities had a first-degree relative with Asperger syndrome. The rate of abnormality was similar to that of severely mentally retarded children, but in excess of that of normal children. Within the autism group, abnormality rate did not correlate with degree of mental retardation. It is concluded that autism has multiple biological aetiologies and that autistic symptoms in a child should always prompt a thorough medical/neurobiological evaluation.

Adolescent↗
PubMed1991

Is autism more common now than ten years ago?

A total population study of children, aged 13 years and under, suggested that there has been an apparent rise in the frequency of autistic disorder and autistic-like conditions (excluding Asperger's syndrome) in one area of western Sweden over the last ten years. The frequency was 4.0/100,000 in 1980, 7.5/10,000 in 1984 and 11.6/10,000 in 1988 in the city of Göteborg. Even though the prevalence rates refer to slightly different age cohorts, it was concluded that the apparent increase is in part due to better detection, but also to new cases born to immigrant parents. Typical cases of autistic disorder accounted for 75% of cases, and 20% had normal or near-normal IQs.

Autistic Disorder↗
PubMed1989

Chromosome findings in twins with early-onset autistic disorder.

In a twin study of autistic disorder, chromosome analyses were carried out in nine pairs of monozygotic (MZ) twins, two pairs of dizygotic (DZ) twins, one set of MZ triplets, one single twin from a MZ pair, and seven single twins from DZ pairs. All but one of the MZ sets were concordant for autistic disorder; all DZ pairs were discordant. Fragile X(q)(27.3) was found in one pair of MZ twins and in MZ triplets, i.e., in 9% of the population with autistic disorder. A marker chromosome of unknown origin was detected in a male twin with autistic disorder from a discordant DZ pair.

Autistic Disorder↗
PubMed1989

A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden.

The Nordic countries were screened for the occurrence of cases of autism with a same-sexed twin under age 25 years. Twenty-one pairs (11 monozygotic and 10 dizygotic) of twins and one set of identical triplets were found and extensively examined. The concordance for autism by pair was 91% in the monoygotic and 0% in the dizygotic pairs. The corresponding concordances for cognitive disorder were 91% and 30%, respectively. In most of the pairs discordant for autism, the autistic twin had more perinatal stress. The results lend support for the notion that autism sometimes has a hereditary component and that perinatal stress is involved in some cases.

Adolescent↗
PubMed1989

Autistic behaviour in Moebius syndrome.

Seventeen children and young adults with Moebius syndrome were examined with a view to finding symptoms of autism. Some 40% of the group showed all or many of the symptoms typical of autistic disorder. The high frequency of autistic symptoms in Moebius syndrome might be a marked overrepresentation and could be suggestive of a common underlying neurobiological deficit at the brainstem level.

Adolescent↗
PubMed1988

Epilepsy in autism and autisticlike conditions. A population-based study.

In a population-based study from Göteborg, Sweden, of infantile autism in children under age 10 years, we found epilepsy in 20% of the cases. Twice as many children among those with "autisticlike conditions" had epilepsy. All types of epilepsy were seen. Of the children in the study who had epilepsy, almost 75% (10/14) had psychomotor epilepsy. The association between autism-autisticlike conditions and epilepsy seemed to be with the behavioral disorder and not with the often concomitant mental retardation. Abnormalities evidenced on electroencephalograms seemed to be generated from the temporal regions and phylogenetically older parts of the brain in a majority of the cases.

Autistic Disorder↗
PubMed1988

Monozygotic female twins with autism and the fragile-X syndrome (AFRAX).

Identical female twins with the combination of infantile autism, mild-moderate mental retardation and the fragile-X (q27.3) chromosome abnormality are described. The case report highlights the need for chromosomal cultures in both boys and girls presenting with the "Kanner syndrome".

Autistic Disorder↗
PubMed1987

Outcome and prognostic factors in infantile autism and similar conditions: a population-based study of 46 cases followed through puberty.

This follow-up study reports data from a population-based series of children in the Göteborg region of Sweden diagnosed in childhood as suffering from infantile autism and other childhood psychoses and followed through to the ages of 16-23 years. The results of the study are in good accord with the only previous population-based study of the same kind. IQ at diagnosis and communicative speech development before 6 years were the most important prognostic factors, but other trends were seen that also compare favorably with previous studies. Some previously unreported trends also emerged.

Adolescent↗
PubMed1987

Neurobiological findings in 20 relatively gifted children with Kanner-type autism or Asperger syndrome.

Seventeen children with classical Kanner autism and three children with Asperger syndrome, all of whom had Full-scale IQs above 65, were subjected to a neurobiological assessment, including CAT scan, auditory brainstem response, EEG, chromosomal cultures, cerebrospinal fluid, blood and urine examinations and a thorough physical examination. 15 of the 20 children had 'definite abnormalities' on at least one of these examinations. It is concluded that the number of cases of 'non-organic' autism, even among children with relatively higher intelligence, dwindles rapidly as our neurobiological assessment methods become increasingly sophisticated.

Adolescent↗
PubMed1986

Autism and autistic-like conditions in Swedish rural and urban areas: a population study.

The total population of children under 10 years in one Swedish urban area and one rural area was screened for infantile autism (IA) and autistic-like conditions (AC). A total prevalence of 6.6 per 10 000 was found, which is somewhat higher than in previous similar studies of the same region. Infantile autism accounted for two-thirds of the cases. Boys far outnumbered girls, but this was entirely accounted for by the IA group. The preponderance of autistic boys was less pronounced among the severely mentally retarded children. Mental retardation was seen in almost 90% of cases and only one child had an IQ exceeding 100; clinical and laboratory signs of brain dysfunction were also found in a majority of cases. Distribution by social class was no different in either patient group from the general population.

Autistic Disorder↗