PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of “CNV-positive” trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

This study compared the effects of low and high doses of botulinum toxin A (BTX‐A) to improve upper extremity function. Thirty‐nine children (22 males, 17 females) with a mean age of 6 years 2 months (SD 2y 9mo) diagnosed with spastic hemiplegia or triplegia were enrolled into this double‐blind, randomized controlled trial. The high‐dose group received BTX‐A in the following doses: biceps 2U/kg, brachioradialis 1.5U/kg, common flexor origin 3U/kg, pronator teres 1.5U/kg, and adductor/opponens pollicis 0.6U/kg to a maximum of 20U. The low‐dose group received 50% of this dosage. Outcomes were measured at baseline and at 1 and 3 months after injection, and results were analyzed with a repeated‐measures analysis of variance. There was no significant difference between the low‐dose and high‐dose groups in upper extremity function over the 3‐month period as measured by the Quality of Upper Extremity Skills Test (F[1,37]=0.18, p=0.68). There was no difference between the groups in the Pediatric Evaluation of Disability Inventory Self Care Domain (F[1,37]=0.05, p=0.83). Although grip strength decreased over the 3‐month period, there was no difference between groups (F[1,32]=0.45, p=0.51). These findings indicate that there is no difference in hand and arm function between a low dose and a high dose of BTX‐A at 1 and 3 months after injection. This information can be used to guide dosage of BTX‐A for the management of upper extremity spasticity in children.

We assessed the impact of videotape analysis on scoring of the Hypertonia Assessment Tool (HAT) that discriminates between hypertonia subtypes. The HAT was administered to 28 children with cerebral palsy (mean age 9 years, range 4-17 years, 61% male). HAT examinations were videotaped; scores were assigned before and after videotape review. Neurological examination provided the gold standard diagnosis. Interrater reliability, criterion validity and individual item validation were assessed using prevalence and bias-adjusted kappa (PABAK). Videotape review did not significantly change the HAT item scores or diagnoses. Item validation eliminated 1 dystonia item. Interrater reliability was moderate for dystonia (PABAK = 0.43) and excellent for spasticity and rigidity (PABAK = 0.86-1.0). Criterion validity was substantial for spasticity (PABAK = 0.71), moderate for dystonia (PABAK = 0.43-0.57) and excellent for the absence of rigidity (PABAK = 1.0). The HAT can be administered without videotape review. Dystonia item 1 did not change the HAT hypertonia diagnosis and will be removed from the HAT.