Tests & Measures: A Resource for Pediatric Physical Therapy Practitioners

H.E.L.P. Assessment information and Review of Clinical Report Summary

As of March 2016 all information previously reported regarding the H.E.L.P. assessment tool is up to date.

Sebold C, Romie S, Szymanska J et al. Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35). Am J Med Genet. 2005;134A(1):80-83. doi:10.1002/ajmg.a.30463.

The purpose of this clinical report was to describe a unique genetic malformation; a partial trisomy 2q, in an infant, and the resulting physical and cognitive deficits she faced. The clinical report focused on an individual female infant, whom the authors followed from birth, retrospectively, to a chronological age of 16moths to determine her impairments and outcomes. Patients with the phenotype of partial trisomy 2q generally have similar physiological and cognitive impairments such as, heart malformations, gastrointestinal malformations, microcephaly, CNS abnormalities, low birth weight, hypotonia, and developmental delays in cognition as well as gross/fine motor skills. Additionally, patients with partial trisomy 2q also present with similar fascial and anatomical abnormalities including, a square shaped head, a short and blunted nose, wide-set eyes, cupid’s bow lip, small and set back jaw, a prominent forehead, and clinodactyly. The subject was born at full term to a 38 year-old female, whose pregnancy was complicated by premature labor at 16 weeks. Terbutaline was given throughout the length of the pregnancy to delay premature birth. At birth the child was in the 5^th percentile for weight and developed frequent reflux, reactive airway disease and displayed hypotonia. The first evaluation, using the Peabody Motor Scale, was performed at 7.5 months due to observed motor delays. The results indicated the subject was primarily functioning at a 2-3 month level for fine motor skills, and at a 3-month level for gross motor skills. PT and OT were initiated at this time, however, no explanations of interventions were provided. At 12-months of age the patient was referred for a medical genetics evaluation, where the official confirmation of partial trisomy 2q was given.  Although the patient presented with developmental and cognitive delays, they were not as severe as expected with her diagnosis. At the chronological age of 13-months, a Speech and Language Pathologist, utilizing the Rosetti Infant-Toddler Language Scale, evaluated the patient. The results indicated that the child was functioning at a 9-12-month level with some emerging skills at the 15-month level. A reassessment of the Peabody Motor Scale indicated the child was performing fine motor skills, similar to an 8-9 month-old and gross motor skills, similar to an 11 month-old. At 15 months, the child was evaluated using the Hawaii Early Learning Profile (H.E.L.P.). The H.E.L.P. is a comprehensive and extensive early learning assessment tool that looks at infants and toddlers and their families. The tool assesses 6 specific skill categories of the child during play; Cognition, communication, gross motor, fine motor, social-emotional, and adaptive/self help skills. The child was assessed as functioning at a 12-13 month level in cognition and social development and was at the 13-14 month level in self-help skills. The child’s results are unique because patients with partial trisomy 2q often present with severe developmental and mental impairments, where as this child presented with mild mental impairments and mild developmental delays.

The article sites several potential explanations for why this child differs; first, the unusually early intervention of PT and OT, second, it is possible that the origin of the duplicated chromosome may have developed a less severe phenotype, and third, differences in imprinting may explain the difference in degree of development delays. Overall, this article provides a helpful explanation of the very rare, partial trisomy 2q, genetic disease. It clearly states physical and cognitive impairments so it makes it easier for a clinician to recognize the possible red flag signs and symptoms associated with the condition.   With that said, the article lacks clinical relevance for practicing therapists because it does not spend time on what type of interventions were utilized in treating this unique patient and what the outcome measures specifically revealed. In conclusion, early assessment of infants with delayed motor skills should be performed, especially if they also display other physiological impairments. Additionally, early intervention with PT and OT is effective and may possibly limit the severity of the developmental delays and physiological impairments commonly associated with partial trisomy 2q.