ABSTRACT
Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder due to deficiency of the enzyme arylsulfatase A that leads to progressive, diffuse demyelination. The syndrome of nonverbal learning disability has been attributed to white matter abnormality and has been reported in children with this disorder and in some healthy family member carriers of gene. We examined the neuropsychologic profiles and MRIs of eight members of the family of a 7-year-old girl with this disease, all of whom were heterozygous carriers of the mutation and five of whom were also carriers of the MLD pseudodeficiency gene. All had low normal levels of arylsulfatase A, and seven of the eight had average or better profiles across all assessed neuropsychological domains. The patient's younger sister had a profile with features of the syndrome of nonverbal learning disability despite a normal MRI, whereas two members with minor white matter findings did not. This family does not provide evidence for the syndrome of nonverbal learning disability in heterozygous carriers of the gene for MLD, even when associated with the MLD pseudodeficiency gene.
Subject(s)
Brain/pathology , Cerebroside-Sulfatase/deficiency , Family/psychology , Learning Disabilities/genetics , Leukodystrophy, Metachromatic/psychology , Neuropsychological Tests , Adolescent , Adult , Child , Child, Preschool , Female , Genotype , Heterozygote , Humans , Learning Disabilities/diagnosis , Learning Disabilities/enzymology , Leukodystrophy, Metachromatic/genetics , Leukodystrophy, Metachromatic/pathology , Magnetic Resonance Imaging , Male , Phenotype , SyndromeSubject(s)
Autistic Disorder/physiopathology , Cerebellum/pathology , Cerebellum/physiopathology , Tuberous Sclerosis/diagnosis , Adolescent , Adult , Child , Child, Preschool , Cognition Disorders/diagnosis , Developmental Disabilities/diagnosis , Developmental Disabilities/epidemiology , Female , Follow-Up Studies , Humans , Infant , Magnetic Resonance Imaging , Male , Neuropsychological TestsABSTRACT
OBJECTIVE: To obtain caregiver and medical professional opinions regarding the child-rearing practices of caregivers of children with sickle cell diseases (SCD). METHODS: We obtained self-reports of parenting practices from 48 caregivers of children with SCD and 48 caregivers of matched classroom comparison peers using the Child-Rearing Practices Report (CRPR). CRPR ratings were also obtained from 12 experts in pediatric SCD regarding their predictions of how a parent of a child with SCD would respond. The experts predicted differences in protectiveness, discipline, and excessive worry. Objective interim and lifetime illness severity scores were obtained for the children with SCD. RESULTS: Caregivers showed similarity between the two groups, disagreement with the experts, and minimal relationship to illness severity. CONCLUSIONS: Experts who work with children with chronic illnesses such as SCD seem to have stereotyped ideas that do not correspond with parental reports of their child-rearing practices, suggesting the need for careful clinical evaluations.
