ABSTRACT
The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort.
Subject(s)
Autistic Disorder/diagnosis , Autistic Disorder/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Surveys and Questionnaires , Adolescent , Autistic Disorder/psychology , Child , Child, Preschool , Cohort Studies , Educational Status , Female , Follow-Up Studies , Genetic Testing/methods , Humans , Intellectual Disability/psychology , Male , South Carolina/epidemiology , Time Factors , Young AdultSubject(s)
Creatine Kinase/blood , Muscle Strength , Muscle Weakness/diagnosis , Muscular Dystrophies, Limb-Girdle/diagnosis , Myositis, Inclusion Body/diagnosis , Quadriceps Muscle/physiopathology , Anoctamins , Biomarkers/blood , Biopsy , Chloride Channels/genetics , DNA Mutational Analysis , Diagnosis, Differential , Genetic Predisposition to Disease , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Muscle Weakness/blood , Muscle Weakness/enzymology , Muscle Weakness/genetics , Muscle Weakness/physiopathology , Muscle Weakness/therapy , Muscular Dystrophies, Limb-Girdle/blood , Muscular Dystrophies, Limb-Girdle/enzymology , Muscular Dystrophies, Limb-Girdle/genetics , Muscular Dystrophies, Limb-Girdle/physiopathology , Muscular Dystrophies, Limb-Girdle/therapy , Mutation , Myositis, Inclusion Body/therapy , Phenotype , Predictive Value of Tests , Quadriceps Muscle/enzymology , Unnecessary Procedures , Up-RegulationABSTRACT
Pacman dysplasia has been previously reported to be a lethal skeletal dysplasia with epiphyseal stippling and osteoclastic overactivity. We report on a sibling of a fetus previously reported as Pacman dysplasia. This infant has a clinical course consistent with mucolipidosis type II (I-cell disease) along with confirmatory biochemical, cytologic, and radiographic evidence. This case expands the phenotypic spectrum of mucolipidosis type II. Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML-II) in other published reports.
Subject(s)
Mucolipidoses/diagnosis , Osteochondrodysplasias/diagnosis , Cerebroside-Sulfatase/metabolism , Diagnosis, Differential , Female , Glucuronidase/metabolism , Humans , Infant , Lysosomes/enzymology , Metacarpus/abnormalities , Metacarpus/diagnostic imaging , Pregnancy , Prenatal Diagnosis , Radiography , Spine/abnormalities , Spine/diagnostic imaging , alpha-Mannosidase/metabolism , beta-Galactosidase/metabolism , beta-Mannosidase/metabolismABSTRACT
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G-->C transversion occurs at the -1 position of the 5' splice junction of intron 7. Two female relatives who are heterozygous for the SLC6A8 mutation also exhibit mild mental retardation with behavior and learning problems. Male patients with the mutation have highly elevated creatine in their urine and have decreased creatine uptake in fibroblasts, which reflects the deficiency in creatine transport. The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology.
