Pilot Study on the Use of a Video-Based Metric Goal Attainment Assessment.

The scientific investigation of developmental neurorehabilitation has been negatively impacted by a lack of outcome measures sensitive to interventional effect, and is currently in need of assessment measures that can be used during social distancing protocols. Here we report on the usability and feasibility from a pilot test of a novel assessment methodology. This preliminary data demonstrate the usability and feasibility of this assessment system, suggests that it is sensitive to change, and supports the further development and testing of this assessment. The assessment methodology, here presented, generates a percent change score based on the metric measurement of individualized goals before and after intervention, thereby facilitating comparisons between groups and across goals. Moreover, it can be conducted remotely and introduces the novel element of goal appropriacy assessment such that goal selection, as well as goal attainment, are assessed via metric measurement.

Case study on the use of intensive pediatric neurorehabilitation in the treatment of kernicterus.

BACKGROUND: Kernicterus Spectrum Disorder (KSD) is the result of prolonged bilirubin toxicity resulting in widespread neurological injury. Once the bilirubin levels are normalized the encephalopathy becomes static, however the consequences of the injury can have life-long effects. The sequelae of KSD include motor impairments, auditory deficits, dental dysplasia, and potentially cognitive impairments. While KSD is a rare diagnosis, particularly in developed countries, there is evidence that there may be a global increase in incidence (Hansen, Semin Neonatol 7:103-9, 2002; Johnson, J Perinatol 29:S25-45, 2009; Kaplan etal. Neonatology 100:354-62, 2011; Maisels, Early Hum Dev 85:727-32, 2009; Olusanya etal., Arch Dis Child 99:1117-21, 2014; Steffensrud, Newborn Infant Nurs Rev 4:191-200, 2004). The literature on the treatment of various specific sequelae of KSD is varied, but in general specific therapeutic efforts to improve motor skills are not evidenced-based. The following is a case report on the use of Acquire therapy, an intensive neuromotor intervention, to ameliorate some of the motor-function deficits secondary to KSD. CASE PRESENTATION: This case-report presents the results of two intensive therapeutic intervention sessions in one male child with KSD. Treatments occurred at 28 and 34 months. The child presented with fine and gross motor deficits as well as communication delays. Each session consisted of daily therapy for 4 h each weekday for 3 weeks. The child was assessed before and after treatment with 2 standardized measures, the Gross Motor Function Measure (GMFM) and The Bayley Scales of Infant and Toddler Development (Bayley). CONCLUSIONS: The GMFM at the 1st assessment was 34, 74at the 2nd assessment (after intervention 1), and 64 at the third assessment and 104 at the 4th assessment (after intervention 2). The Bayley at the 3rd assessment was 18, and 38 at the 4th assessment (after intervention 2).

A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.

OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments. Mutations in the X-linked intellectual disability gene (XLID) CASK is one etiology associated with microcephaly which produces mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH; OMIM# 300749). We pilot-tested an intensive therapy in three girls with heterozygous mutation in the gene CASK and MICPCH. Child A = 54 months; Child B = 89 months; and Child C = 24 months received a targeted treatment to improve gross/fine motor skills, visual-motor coordination, social interaction, and communication. Treatment was 4 h each weekday for 10 treatment days. Operant training promoted/refined goal-directed activities. The Peabody Developmental Motor Scales 2 was administered pre- and post-treatment. RESULTS: Child A gained 14 developmental months; Child B gained 20 developmental months; and Child C gained 39 developmental months. This case series suggests that children with MICPCH are responsive to intensive therapy aimed at increasing functional skills/independence. Trial Registration ClinicalTrials.gov Registration Number: NCT03325946; Release Date: October 30, 2017.