ABSTRACT
The aim of the present study was to develop a neuropsychological test battery for patients with juvenile neuronal ceroid lipofuscinosis (JNCL) and to study the development of cognitive functions during the first 5 years after diagnosis. Fourteen patients with JNCL entered the study. Nine patients were homozygous for the major mutation, whereas five were compound heterozygotes. All patients were studied annually with a special neuropsychological test battery (NEPSY) adapted from Luria's neuropsychological test, and modified for the visually handicapped; the Wechsler Intelligence Scale for Children - Revised (WISC-R) was also included. The neurological examinations were scored. Furthermore, 1.OT magnetic resonance imaging scan was performed at the beginning of follow-up and after a mean of 5 years. A decline in verbal IQ (WISC-R) during the follow-up period was found in all subjects except one compound heterozygous male. Short-term memory and digit memory span were already impaired at an early stage of the disease. Orientation to time was found to decline more than orientation to person and place. Motor speed usually became impaired after 10 years of age. Spatial orientation was impaired only in the patients homozygous for the major mutation. The test battery was found to be reliable and easy to use, and offered valuable information on the progress of the disease. It also provided important guidelines for rehabilitation.
Subject(s)
Cognition Disorders/diagnosis , Cognition Disorders/etiology , Neuronal Ceroid-Lipofuscinoses/complications , Neuropsychological Tests , Adolescent , Atrophy/pathology , Attention/physiology , Brain/metabolism , Brain/pathology , Brain/physiopathology , Child , Child, Preschool , Female , Follow-Up Studies , Functional Laterality/physiology , Humans , Magnetic Resonance Imaging , Male , Neuronal Ceroid-Lipofuscinoses/diagnosis , Neuronal Ceroid-Lipofuscinoses/physiopathology , Severity of Illness Index , Speech/physiology , Tomography, Emission-Computed , Tomography, Emission-Computed, Single-PhotonABSTRACT
A total of 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis), homozygous or heterozygous for the major mutation, a 1.02-kb deletion, in the CLN3 gene, were studied to relate their genotype to their clinical phenotype. The onset of visual failure and epilepsy was highly concordant in both groups. Great inter- and intrafamilial heterogeneity was demonstrated in the development of mental and physical handicap and in magnetic resonance imaging findings among both homozygous and heterozygous patients. The 1.02-kb deletion in homozygous form was always associated with mental and physical handicap, whereas the heterozygous phenotype could be extremely benign without affecting the intellectual level of the patient. Our data suggest that genetic background, modifying genes, and environmental factors all influence the final phenotype of Batten disease.
Subject(s)
Gene Deletion , Neuronal Ceroid-Lipofuscinoses/diagnosis , Neuronal Ceroid-Lipofuscinoses/genetics , Adolescent , Adult , Child , Child, Preschool , DNA Mutational Analysis , Disease Progression , Heterozygote , Homozygote , Humans , Magnetic Resonance Imaging , Mental Disorders/etiology , Mutation , Neuronal Ceroid-Lipofuscinoses/complicationsABSTRACT
We studied psychosocial development and skeletal growth in 19 newly diagnosed patients with Legg-Calvé-Perthes disease (LCPD). Eleven patients had problems in visuospatial skills and five of 12 school-aged children had learning difficulties. The growth velocity of the patients was evaluated from 4 years before until 2 years after the diagnosis was made. Eight patients had a catch-up growth with +1.2 (0.9-1.7) delta SDS score (SDS: mean and ranges) before the diagnosis. Four patients with short stature and retarded bone age slightly diminished their growth velocity. Overnight serum growth hormone (GH) concentration and insulin-like growth factor I (IGF-I) levels were examined in the first nine consecutive patients. One patient had a high and another had a low mean GH concentration level, whereas all patients had IGF-I levels within normal limits. These results suggest that different kinds of growth disturbances may be associated with LCPD.
Subject(s)
Developmental Disabilities/etiology , Growth , Legg-Calve-Perthes Disease/complications , Visual Perception , Child , Child, Preschool , Female , Growth Hormone/blood , Humans , Insulin-Like Growth Factor I/analysis , Learning Disabilities/complications , Legg-Calve-Perthes Disease/blood , Legg-Calve-Perthes Disease/pathology , Legg-Calve-Perthes Disease/psychology , Male , Neuropsychological Tests , Perceptual Disorders/complications , PsychophysiologyABSTRACT
Sixty-eight children with malignant brain tumors were treated with the "8 in 1" chemotherapy protocol from 1986 to 1993 in Finland. The overall 5-year survival rate was 43%. Thirty-one children are still alive and tumor-free, and have been evaluated in the present study. Of these 31 children, 26% had hemi- or tetraplegia, 13% intractable seizures, and 30% attend special schools. The mean full scale (FS) IQ was 85 (range 45-138), 24% had an FSIQ value less than 70, and 36% more than 90. One-half of the survivors were placed in Bloom's group I or II, are able to lead an active life, and have only mild neurologic disabilities. In the other, neurologic late complications accumulated and these children were relegated to Bloom's group III or IV, with major disabilities such as hemiplegia, intractable epilepsy, or mental retardation. The most important prognostic factors were severe perioperative complications, young age at diagnosis, and cranial irradiation.
