TY - JOUR
T1 - Regression Trends & Treatment Effectiveness to Improve Quality of Life for a Pre-Adolescent Girl with MPS IIIA
AU - Schreck, Kimberly A.
AU - Helsel, Cortney
AU - Paxon, Alisha
AU - Weston, Kasey
AU - Daniels, Mia
N1 - Publisher Copyright:
© 2018, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2018/8/1
Y1 - 2018/8/1
N2 - Children with Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome) have a rare lysosomal storage disorder. As these children age, they exhibit increasing numbers of symptoms representative of autism spectrum disorder, cognitive and communication regression, and behavior problems. Regression typically begins by approximately 6 years of age with loss of verbal communication and eventual motor regression. No treatments or cures exist for the physical manifestations or regression with the disorder with most professionals and researchers concentrating on palliative care. The current study provides seven years of longitudinal data for a 12-year-old girl with MPS IIIA. Data illustrated a day-to-day description of her communication skill regression. Descriptions and data included communication intervention, augmentative communication instruction, imitation motor-skill development and retention, and behavioral reductions using Applied Behavior Analysis (ABA). Data related to communication regression indicated high word retention variability directly before loss of speech. Data also indicated that ABA was successful in (a) teaching augmentative communication skills even after her cognitive and communication regression, (b) in learning and maintaining motor skills (e.g., hand use, mobility, and body stability), and (c) in reducing behavior problems (e.g., pica, hand mouthing). This study suggests that ABA may provide instructional techniques resulting in continued communication methods, maintenance of motor mobility, and reduction of unsafe behaviors for children with MPS IIIA. More research needs to be conducted to expand care for these children from only palliative care to treatments for increasing quality of life.
AB - Children with Mucopolysaccharidosis type IIIA (MPS IIIA/Sanfilippo Syndrome) have a rare lysosomal storage disorder. As these children age, they exhibit increasing numbers of symptoms representative of autism spectrum disorder, cognitive and communication regression, and behavior problems. Regression typically begins by approximately 6 years of age with loss of verbal communication and eventual motor regression. No treatments or cures exist for the physical manifestations or regression with the disorder with most professionals and researchers concentrating on palliative care. The current study provides seven years of longitudinal data for a 12-year-old girl with MPS IIIA. Data illustrated a day-to-day description of her communication skill regression. Descriptions and data included communication intervention, augmentative communication instruction, imitation motor-skill development and retention, and behavioral reductions using Applied Behavior Analysis (ABA). Data related to communication regression indicated high word retention variability directly before loss of speech. Data also indicated that ABA was successful in (a) teaching augmentative communication skills even after her cognitive and communication regression, (b) in learning and maintaining motor skills (e.g., hand use, mobility, and body stability), and (c) in reducing behavior problems (e.g., pica, hand mouthing). This study suggests that ABA may provide instructional techniques resulting in continued communication methods, maintenance of motor mobility, and reduction of unsafe behaviors for children with MPS IIIA. More research needs to be conducted to expand care for these children from only palliative care to treatments for increasing quality of life.
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U2 - 10.1007/s10882-018-9601-5
DO - 10.1007/s10882-018-9601-5
M3 - Article
AN - SCOPUS:85047224382
SN - 1056-263X
VL - 30
SP - 545
EP - 558
JO - Journal of Developmental and Physical Disabilities
JF - Journal of Developmental and Physical Disabilities
IS - 4
ER -