Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age.

Rett syndrome, today known as a worldwide important cause behind severe mental retardation in females, has been seen in Sweden since the 1960s (the senior author). This study gives population representative clinical and sociomedical follow-up data from West Sweden (1/4 of the population in Sweden). The series comprises 54 females diagnosed in 1971-1998, 5-60 years old, median age 20. Mortality in 1971-2000 was 18% (10/54), median age at death 20. Death usually had been sudden and unexpected. The sociomedical follow-up emphasized the adult group. The large majority had usually moved to small group homes, a good and well-accepted environment once the staff had learned the particularities of these so uniquely neurodevelopmentally disabled women.

Epilepsy in a representative series of Rett syndrome.

UNLABELLED: In a representative series of 53 females with Rett syndrome (RS), aged 5-55 y, a history of epilepsy was present in 50 (94%), 45 of whom had 5-y active epilepsy. Compared with severe mental retardation in general, the median age of seizure onset was significantly later (4 vs 0.8 y) and partial complex seizures were more frequent (54% vs 23%). Neonatal seizures had occurred in only one and infantile spasms in none compared with 26% and 12%. After teenage, the severity of epilepsy tended to decrease, i.e. lower seizure frequency and relatively more partial seizures. The rate of being seizure-free for 1 y was 8% after 10 y and 40% after 27 y of epilepsy duration. Frequent seizures were associated with smaller head circumference. CONCLUSION: This epilepsy profile could fit in with present-day knowledge of RS as a form of dendrito-synaptogenic developmental failure with mainly late postnatal consequences, as well as being a relatively stationary condition in adulthood.

[Rett syndrome--an odd handicap affecting girls. A current 25-year follow-up in Western Sweden]. / Retts syndrom--ett egenartat handikapp som drabbar flickor. Aktuell västsvensk uppföljning genom 25 år.

Rett syndrome, a complicated neurodevelopmental disorder exclusively affecting girls in early childhood, is now known to be one of the major worldwide causes of severe mental retardation in females. Although internationally unknown until the mid-1980s, under another designation it had been observed in Sweden since the early 1960s. The article consists in a review of current clinical, neurobiological and genetic knowledge of the syndrome, and a systematic penetration of data collected from the follow-up of a west Swedish series of 54 female patients, 5-57 years of age. Mortality in the series was 17 percent, with a median age at death of 24 years. In most cases death was sudden and unexpected.

Intractable epilepsy in a population-based series of mentally retarded children.

PURPOSE: The characteristics of intractable epilepsy were analyzed in a population-based study of active epilepsy in mentally retarded children aged 6-13 years. METHODS: Diagnostic registers, EEG laboratory registers, and registers for the Education of the Subnormal were searched. Medical files were scrutinized. Clinical examinations and interviews with parents and caregivers or both were performed. EEG recordings, computed tomography (CT) and magnetic resonance imaging (MRI) of the CNS were reevaluated. RESULTS: Forty-five percent (44 of 98) of the children with mental retardation (MR) and active epilepsy had intractable seizures, defined as one or more seizures every day or week. The median age at onset was 0.8 years, as compared with 3.0 years for those with controlled epilepsy. Predictive factors for frequent seizures were the number of seizure types, severe MR, status epilepticus (SE) and tonic seizures. Epileptiform EEG activity was present in 91%, and focal activity in 65%. Brain lesions were detected on CT and MRI in 70%, with generalized lesions in 60%. Concurrent focal epileptiform activity and focal brain lesions on CT/MRI were detected in 26%. The percentages and prevalence rates for infantile spasms (IS) and Lennox-Gastaut syndrome (LGS) were 18% (0.25 in 1,000) and 7% (0.06 in 1,000), respectively. One of 8 children with IS had had previous neonatal seizures, 3 had SE and 1 later developed LGS. CONCLUSIONS: Children with MR and intractable epilepsy have a high frequency of severe MR and additional major neuroimpairments. EEG recordings frequently showed focal changes despite generalized lesions in neuroradiology.

Motor and sensory dysfunctions in children with mental retardation and epilepsy.

The aim of this study was to assess motor and sensory functions in a population-based series of 88 mentally retarded children with epilepsy. A new standardized physiotherapy protocol was developed for the heterogeneous population of children with epilepsy; the Cailler-Azusa scale was also found to be useful. For children with cerebral palsy, the gross motor function measure was used. Sensorimotor impairments, resulting in disabilities and handicap, were found to be very common but often overlooked and neglected. Sensorimotor dysfunctions need to be identified in order to provide rational training, understanding and care to children with epilepsy and mental retardation.

Characteristics of seizures in a population-based series of mentally retarded children with active epilepsy.

PURPOSE: The characteristics of seizures were analysed in a population-based study of active epilepsy in 6- to 13-year-old mentally retarded children. METHODS: The search procedure included diagnostic registers, EEG registers, and registers of the Education of the Subnormal. Medical files were scrutinized, and clinical examinations and interviews with parents or caretakers or both were performed. RESULTS: The median age of seizure onset was 1.3 years, 3.1 for children with mild retardation and 0.8 for children with severe retardation. Among the 98 children identified, current seizure groups were partial in 20, generalized in 59, and mixed in 19. The prevailing seizure types were tonic-clonic, myoclonic, atypical absences, and partial complex seizures, present in 42, 33, 23, and 23 children, respectively. A total of 46 children had more than one seizure type. Seizures every day/week occurred in 44 children. There was a constancy between seizure type at onset and later seizure type. Neonatal seizures (n = 25), infantile spasms (n = 12), and status epilepticus (n = 37) occurred independent of one another. Prognostic factors for poor neurologic outcome were early onset of epilepsy, infantile spasms as onset type, and prior neonatal seizures. Children with only partial seizures less frequently had severe mental retardation, cerebral palsy, and visual impairment than those with only generalized seizures. CONCLUSIONS: Epilepsies in children with mental retardation are characterized by severe seizure manifestations. The brain damage giving rise to mental retardation and epilepsy is probably the main factor in terms of seizure outcome.

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.

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.

Active epilepsy in mentally retarded children. II. Etiology and reduced pre- and perinatal optimality.

A population-based study of active epilepsy in mentally retarded children identified 98 children, 6-13 years old. A biopathological origin was established in 66% of mildly and 92% of severely retarded children: a prenatal etiology was considered in 51% and 57%, a perinatal in 9% and 19%, a postnatal in 6% and 16% and an untraceable etiology in 34% and 8%, respectively. Severe mental retardation was more frequent in the peri- and postnatal groups (80% and 83%) than in the prenatal and untraceable groups (67% and 29%). Thirty-four pre- and perinatal optimal items were defined. Children with a prenatal etiology did not differ from controls in any of the periods. Children with a perinatal etiology had, compared with controls, higher proportions of non-optimal items successively increasing through the pre- and perinatal periods showing the accumulation of negative events.

Active epilepsy in mentally retarded children. I. Prevalence and additional neuro-impairments.

A population-based study of active epilepsy was conducted in 6-13-year-old mentally retarded children born between 1975 and 1986. The population at risk comprised 48,873 children. Ninety-eight children were identified, 35 mildly and 63 severely retarded. The prevalence was 2.0 per 1000; 0.7 per 1000 for mildly and 1.3 per 1000 for severely retarded children. Sixty-nine children had at least one additional neuroimpairment. Cerebral palsy was found in 42 children with a majority of spastic/dystonic tetraplegias; visual impairment was present in 24 and autism in 24. Thirty-three children had only a mild or no gross motor disability and mild mental retardation, while 23 had IQs < 20 and a very severe gross motor disability. This study underlines the fact that active epilepsy in mentally retarded children is often associated with additional neuroimpairments, especially a combination of severe cerebral palsy and severe visual impairment.