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Clinical decision making in hypotonia and gross motor delay : a case report of type 1 spinal muscular atrophy in an infant

MALERBA KH; TECKLIN JS
PHYS THER , 2013, vol. 93, n° 6, p. 833-841
Doc n°: 165694
Localisation : Documentation IRR

D.O.I. : http://dx.doi.org/DOI:10.2522/ptj.20110376
Descripteurs : AE62 - AMYOTROPHIE SPINALE

Children often are referred for physical therapy with the
diagnosis of hypotonia when the definitive cause of hypotonia is unknown. The
purpose of this case report is to describe the clinical decision-making process
using the Hypothesis-Oriented Algorithm for Clinicians II (HOAC II) for an infant
with hypotonia and gross motor delay. DESCRIPTION: The patient was a
5-month-old infant who had been evaluated by a neurologist and then referred for
physical therapy by his pediatrician. Physical therapist evaluation results and
clinical observations of marked hypotonia, significant gross motor delay, tongue
fasciculations, feeding difficulties, and respiratory abnormalities prompted
necessary referral to specialists. Recognition of developmental, neurologic, and
respiratory abnormalities facilitated clinical decision making for determining
the appropriate physical therapy plan of care. OUTCOMES: During the brief episode
of physical therapy care, the patient was referred to a feeding specialist and
diagnosed with pharyngeal-phase dysphasia and mild aspiration. Continued global
weakness, signs and symptoms of type 1 spinal muscular atrophy (SMA), and
concerns about increased work of breathing and respiratory compromise were
discussed with the referring physician. After inconclusive laboratory testing for
metabolic etiologies of hypotonia, a genetics consult was recommended and
confirmed the diagnosis of type 1 SMA at 9 months of age. DISCUSSION: Physical
therapists use clinical decision making to determine whether to treat patients or
to refer them to other medical professionals. Accurate and timely referral to
appropriate specialists may assist families in obtaining a diagnosis for their
child and guide necessary interventions. In the case of type 1 SMA, early diagnosis may affect outcomes and survival rate in this pediatric population.
- Enfant

Langue : ANGLAIS

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