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GALACTOSEMIA STUDIES

GALACTOSEMIA STUDIES. Past, Pilot, and Proposed. I. PAST. Over one weekend in Boston, we conducted medical, nutritional, genetic, neurological, speech/language, laboratory, and psychological examinations in 33 adults with classic galactosemia. .

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GALACTOSEMIA STUDIES

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  1. GALACTOSEMIA STUDIES Past, Pilot, and Proposed

  2. I. PAST • Over one weekend in Boston, we conducted medical, nutritional, genetic, neurological, speech/language, laboratory, and psychological examinations in 33 adults with classic galactosemia. Supported by Parents of Galactosemic Children, Inc (Galactosemia Foundation) And New England Genetics Collaborative

  3. RESULTS • Full Scale IQ 88 (range: 55-122) • Tremor 46% • Employed 79% • Married or living with partner 27% • Anxiety (Currently or in the past) 52% • Depression (Currently or in the past) 39% • Low bone density 24%

  4. SPEECH • Reduced tongue strength 73% • Decreased phonation duration 64% • Reduced articulation 12% • Dysarthria 24% • Apraxia of speech 9%

  5. FERTILITY & REPRODUCTION • WOMEN • Primary ovarian insufficiency 100% • Average age of menarche 15 years • Pregnancy 1 • Births 1 • MEN  • Average age of puberty 13 years • Fathered children 2

  6. NUTRITION • Low calcium intake 80% • Low vitamin D intake 75% • Normal height for males & females • Normal body mass index (BMI) 58% • Underweight 13% (females only) • Overweight 25% females/24% males • Obese 13% females/6% males

  7. WHAT WE DIDN’T KNOW BEFORE • Adult Phenotype • height is well within average range • Speech issues resolve • 46% had tremor • Few men engage in sexual relationships and father children • Underlying deficit may be motor • No genotype/phenotype correlation • Older subjects no worse than younger subjects

  8. II. PILOT STUDY • Specific aims • Assess the relevance of neuroimaging and electroencephalogram (EEG) measurements in adults with galactosemia in explaining the pathogenesis and timing of neurocognitive impairments and neurological symptoms in galactosemia. • To determine if there is evidence for a right hemispheric developmental deficit in galactosemia. Supported by The Galactosemia Foundation and, in part, by New England Genetics Collaborative.

  9. METHODS • 10 Adults with galactosemia (5 males/5 females) • Neuroimaging Study – MRI • Structural • DTI • Functional MRI (fMRI) • EEG • Neuropsychological Evaluation • Neurological Assessment

  10. III. PROPOSED STUDY • Specific aim #1 Recruit 2,200 subjects with hereditary galactosemia from North America and Europe over a five year period of time. • Specific aim #2 Perform comprehensive phenotyping on 150 adult subjects with galactosemia. • Specific aim #3 Establish a data coordinating center for an International Galactosemia Research Consortium and Galactosemia Bio-repository at the Manton Center for Orphan Disease Research at Children's Hospital Boston • Specific aim #4 Perform whole genomic DNA sequencing on 10 subjects with Q188R/Q188R genotype and severe neurological complications and on 10 subjects with Q188R/Q188R genotype and little or no chronic complications.

  11. STAY TUNED!

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