Lisa Rossman Murphy
Department of Kinesiology and Health, Rutgers University, USAFulltext PDF
Background: Trisomy 9 Mosaicism (T9M) is a rare genetic disorder, with less than 100 known cases reported since 1973. Studies confirm numerous phenotypic features and anomalies of various body systems and organs. Developmentally, a wide range of function has been reported. This study documents the phenotypic presentation of a female with T9M, describes her progress toward developmental motor milestones, and offers insight for the medical community and caregivers of those affected by this condition. Case Description: The patient was born premature with low birth weight, had a complicated medical background and presented with global hypotonia and low function. This study follows the patient from 16 to 36 months of age. The patient received physical therapy for 60 min, twice per week until age 24-months when it was increased to three-60 min sessions per week. Outcomes: The Battelle Developmental Inventory, 2nd Edition (BDI-2) was used to assess gross motor function. BDI-2 scores at 16-months old placed the patient at a newborn level. Throughout the study, the patient contended with medical issues-reflux, hearing impairment, vision impairment. She lived with a very supportive family who wanted her to develop to her potential and understood there would be delays in her achieving motor milestones. After 36-months of age, BDI-2 scores for gross motor skills were at a 9-month level. Discussion: Although there are many medical factors potentially affecting development in children with T9M, physical therapy with goals to increase postural control, strength, motor control and function may improve social interactions and ultimately quality of life for these patients. Caregivers and clinicians should strive to aid these children in reaching their potential.
Murphy LR. Progress toward Achievement of Early Motor Milestones for a Child with Trisomy 9 Mosaicism: Case Report. Ann Clin Case Rep. 2019; 4: 1766.