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Biomedical subjects

E Fernell

Publications and source records attributed to E Fernell.

At least 19 recordsLinked to original sources

Behavioral and learning problems in schoolchildren related to cognitive test data.

AIM: To assess cognitive functions in children who were reported by their teachers and parents to exhibit learning and/or behavioural problems, especially in the field of attention. METHOD: In connection with the scheduled school health examination in grade 4 in one municipality, 591 children were screened through questionnaires and interviews with the parents and teachers. Those with positive rating scores were subjected to further cognitive assessments, including the WISC III. A cluster analysis based on cognitive data was performed. RESULTS: One third (175 children) of the population obtained a positive rating score, indicating significant behavioural and/or learning problems. Of these, 144 children were assessed. Cluster analysis revealed six clusters. Within these clusters, two large groups were identified: one group displayed generally low cognitive abilities and one group was dominated by attention deficit symptoms. CONCLUSION: We found a surprisingly high number of positive rating scores in the cohort (30%). This could be explained, on the one hand, by known developmental disorders, such as mental retardation and learning disabilities, ADHD (Attention Deficit Hyperactivity Disorder) and pervasive developmental disorders, and, on the other hand, by prevalent milder cognitive dysfunctions that, in combination with inappropriate demands, seemed to lead to overt behavioural problems.

Child↗

Aspects of activities and participation in daily life related to body structure and function in adolescents with obstetrical brachial plexus palsy: a descriptive follow-up study.

AIM: To analyse whether activities and participation in daily life differed between adolescents with obstetrical brachial plexus palsy (OBPP) and their able-bodied peers. METHOD: Fifty-one teenagers born in 1985-1987 with OBPP and a comparison group consisting of 116 age-matched adolescents in a socioeconomically and socioculturally representative area answered a self-report questionnaire concerning their daily life, school performance and friendships. The OBPP group was divided into three functional groups according to the degree of severity of the OBPP. RESULTS: Subjects with OBPP had interests, activities and a social life very similar to those of the teenagers in the comparison group. Differences were, however, found in self-esteem for sport/motor activities, with self-esteem being significantly lower in teenagers with the most severe type of OBPP. The OBPP groups were concerned about the risks for their affected and unaffected limb. CONCLUSION: In our society, adolescents with OBPP report a typical teenage life today. However, the indications for distress and worry related to the disability have to be considered.

Adolescent↗

Developmental profiles and auditory perception in 25 children attending special preschools for language-impaired children.

AIM: To study different developmental profiles and auditory perception in a representative group of children with language impairment (LI). METHODS: A multidisciplinary investigation was carried out in a group of 25 children attending units specifically for language-impaired children. An assessment of the cognitive level, motor performance, behaviour and auditory perception was performed and the results were compared with those for age-matched groups of children. RESULTS: Among those with moderate or severe language impairment (LI), around 90% had additional developmental disorders. In three tests of auditory perception, children with LI had problems with working memory and speech discrimination. No problems were found with the children's temporal resolution in auditory perception. Another conclusion from the auditory perceptual tests was that the children's cognitive abilities were important for their success in these tests. CONCLUSION: Neurodevelopmental deviations are very common in LI children. The optimal route for the assessment and treatment of these children would be a multidisciplinary approach.

Auditory Perception↗

Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals.

The prevalence of autistic disorder was analysed in 25 individuals with Möbius sequence, a disorder with brain-stem dysfunction. The sample consisted of 18 males and seven females (20 participants were aged 2 to 22 years, and five were aged 1, 19 and 23 months, and 55 years old). Participants were recruited after a nationwide call and were part of a multidisciplinary study of individuals with Möbius sequence. They were given a meticulous neuropsychiatric examination including standardized autism diagnostic interviews. Ten individuals had an autistic spectrum disorder. Six of these met all diagnostic criteria for autism. In 23 individuals cognitive development could be assessed. Eight of those 23 patients had clear learning disability and six individuals were functioning in the normal but subaverage range. Autistic spectrum disorder and learning disability occurred in more than a third of the examined patients. Considering the hospital-based nature of the sample, these findings may be overestimates. Nevertheless, awareness of this coexistence is important in the diagnosis and habilitation care of children with Möbius sequence. Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage.

Adolescent↗

[Ataxia-telangiectasia surveyed in Sweden].

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease with a complex phenotype involving cerebellar degeneration, immunodeficiency, cancer risk and radiosensitivity. Our aim has been to identify Swedish AT patients in order to study the possible "Swedish phenotype" of the disease. In the 19 patients identified in Sweden we found a phenotype fairly similar to what has been described internationally, with the exception of some differences including lower cancer incidence in patients and their relatives and somewhat more pronounced immunodeficiency and concomitant susceptibility to infections.

Adolescent↗

Autistic disorders in children with CHARGE association.

Three children with CHARGE association (coloboma, heart defect, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and hearing defects) as well as concomitant autistic disorder are reported. Two of the children also had mental retardation. Several types of cerebral maldevelopment/dysfunction have been reported in CHARGE association. With regard to aetiology, involvement of the neural crest has been suggested. Autism in CHARGE association may represent a neuro-endocrine dysfunction. Children with a CHARGE association have many medical problems and therefore autistic behaviour can easily be overlooked. A multidisciplinary approach with respect to assessment, treatment, and habilitation is of vital importance.

Abnormalities, Multiple↗

Infantile hydrocephalus: declining prevalence in preterm infants.

The prevalence and aetiological panorama of infantile hydrocephalus in western Sweden have been followed since the late 1960s. A significant increase in the live birth prevalence of very preterm infants with infantile hydrocephalus was found, from 6.99 per 1000 in the birth year period 1973-78 to 25.37 in 1983-86, and owing to an increased survival of very preterm infants with a high risk of hydrocephalus, secondary to an intraventricular haemorrhage occurring in the perinatal period. In the present study covering the birth years 1991-94, a declining prevalence to 13.69 per 1000 very preterm infants was found. In moderately preterm and term groups, mostly with prenatal aetiologies, the prevalence was unchanged. Outcome in surviving children with infantile hydrocephalus remained essentially the same as in previous studies, indicating that the underlying aetiology is the most decisive factor with respect to ensuing neuroimpairments.

Gestational Age↗

Aetiological factors and prevalence of severe mental retardation in children in a Swedish municipality: the possible role of consanguinity.

The prevalence of severe mental retardation (SMR) was studied in one of the 24 suburban municipalities in Stockholm. The study area had a high proportion of non-European nationals. The study population comprised 14138 children born between 1979 and 1992 who resided in this municipality on the census day, 31 December 1995. The total prevalence of SMR was 4.5 per 1000, being 3.7 per 1000 and 5.9 per 1000 in the European and in the non-European population, respectively. The majority of cases (66%) had a definite prenatal origin. Down syndrome was the cause in 20%. Six families (10%) had at least two children with SMR. It was concluded that the prevalence was higher than in previous Swedish studies. Many cases were attributed to genetic factors. Consanguineous marriages were assumed to be a factor of importance in the distribution of aetiologies. Demographic differences between areas in Sweden must be considered when planning habilitation services.

Adolescent↗

Children with blindness due to retinopathy of prematurity: a population-based study. Perinatal data, neurological and ophthalmological outcome.

A population-based group of 27 children with total blindness due to retinopathy of prematurity (ROP), born in Sweden from 1980 to 1990, was examined. They constituted all but two of the total of 29 children with total blindness due to ROP known to the national register of visually impaired children when reviewed from 1980 to 1 January 1995. All children had a gestational age of less than 31 weeks and most had had a complicated perinatal period. The retinal disease was discovered late, most often after it had already progressed to bilateral retinal detachment. Repeated vitreoretinal surgery had been performed in most children, but postoperative visual function did not improve. Three-quarters of the group had major neurological impairment (mental retardation, cerebral palsy, or epilepsy) at age 4 to 14 years. There was an impression that extensive ophthalmological efforts delayed neurodevelopmental assessments and examinations as well as adequate habilitation.

Adolescent↗

Relation between blindness due to retinopathy of prematurity and autistic spectrum disorders: a population-based study.

Children with blindness due to retinopathy of prematurity (ROP)--who are at greatly increased risk of cerebral damage--have been noted to have a high rate of autistic symptoms, but systematic controlled studies have been lacking. A controlled population-based study was performed; one group was blind due to ROP (N=27) and the other was congenitally blind due to hereditary retinal disease (N=14). Fifteen of the 27 children with ROP had autistic disorder. All these children were mentally retarded and about one-third of them had cerebral palsy. In the comparison group, two of the 14 children had autistic disorder. It is concluded that there is a strong association between ROP and autistic disorder. The association is most probably mediated by brain damage and is largely independent of the blindness per se.

Adolescent↗

Possible effects of tetrahydrobiopterin treatment in six children with autism--clinical and positron emission tomography data: a pilot study.

Six children, between 3 and 5 years of age, having infantile autism according to DSM-III-R, were treated for 3 months with 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (R-BH4), a cofactor for tyrosine hydroxylases in the biosynthetic pathway of catecholamines and serotonin. A criterion for inclusion in the study was a relatively low level of R-BH4 in the cerebrospinal fluid. For clinical evaluation, the Parental Satisfaction Survey (PASS) was used every fourth week and the Griffiths Developmental Scales were used before starting and 3 months after completing the treatment. During the treatment period, all parents reported improvements in the child's social functioning-mainly eye contact and desire to interact-and in the number of words or sounds which the child used. Small positive changes were noted on the Griffiths Developmental Scales between the two testing occasions. R-BH4 levels in CSF increased significantly after treatment. The positron emission tomography (PET) study showed that the high value of dopamine D2 receptor binding in the caudate and putamen decreased by about 10% towards the normal level after treatment with R-BH4. The observations in this open study indicate that the drug might be useful for a subgroup of children with autism, but there is a need for a larger double-blind study with a longer treatment period.

Antioxidants↗

Visual impairment in preterm children with periventricular leukomalacia--visual, cognitive and neuropaediatric characteristics related to cerebral imaging.

Thirteen preterm children, aged 4 to 14 years, with visual impairment due to periventricular leukomalacia (PVL) were evaluated for visual function, intellectual level, cognitive profile and motor function. Their visual impairment was characterized by low acuity, crowding, visual field defects and ocular motility disturbances. Their cognitive profile was uneven, often with considerably higher scores on verbal than on visual-spatial tasks. Nine children had normal intelligence, three had mild mental retardation and one had severe mental retardation. In all the children, visual impairment was complicated by visual perceptual difficulties, accounting for their greater visual handicap than would be expected from their visual acuities and strabismus alone. Though CT or MRI revealed bilateral PVL in all the children, six had no motor impairment consistent with cerebral palsy, which is an unexpected finding.

Adolescent↗