Kelly Gray

Spinal muscular atrophy type I: Do the benefits of ventilation compensate for its burdens?

We report the progress of an 8‐year‐old child with spinal muscular atrophy (SMA) type 1. The parents elected in infancy that the child should be on long‐term ventilation, but all attempts to establish this care at home have failed, so the child remains ventilated in the hospital. The leader of the long‐term ventilation team reports on the childs progress and describes a week in the childs life. Two paediatricians argue that the benefits of long‐term ventilation have not and do not compensate the child for the burdens imposed on her by this treatment and explain why they would not support the withdrawal of long‐term ventilation now. They argue that long‐term ventilation might have been avoided by applying to a court of law when the child was an infant. An ethicist discusses ethical aspects of decision‐making in SMA type 1.

Is Tibialis Anterior Tendon Transfer Effective for Recurrent Clubfoot

BackgroundTibialis anterior tendon transfer surgery forms a part of Ponseti management for children with congenital talipes equinovarus who, after initial correction, present with residual dynamic supination. Although retrospective studies support good outcomes, prospective longitudinal studies in this population are lacking.Questions/purposesWe assessed strength, plantar loading, ROM, foot alignment, function, satisfaction, and quality of life in patients with clubfoot that recurred after Ponseti casting who met indications for tibialis anterior tendon transfer surgery, and compared them with a group of patients with clubfoot treated with casting but whose deformity did not recur (therefore who were not indicated for tibialis anterior tendon transfer surgery).MethodsTwenty children with idiopathic congenital talipes equinovarus indicated for tibialis anterior tendon transfer surgery were recruited. Assessment at baseline (before surgery), and 3, 6, and 12 months (after surgery) included strength (hand-held dynamometry), plantar loading (capacitance transducer matrix platform), ROM (Dimeglio scale), foot alignment (Foot Posture Index©), function and satisfaction (disease-specific instrument for clubfoot), and quality of life (Infant Toddler Quality of Life Questionnaire™). Outcomes were compared with those of 12 age-matched children with congenital talipes equinovarus not indicated for tibialis anterior tendon transfer surgery. Followup was 100% in the control group and 95% (19 of 20) in the tibialis anterior transfer group.ResultsAt baseline, the tibialis anterior tendon transfer group had a significantly worse eversion-to-inversion strength ratio, plantar loading, ROM, foot alignment, and function and satisfaction. At 3 months after surgery, eversion-to-inversion strength, plantar loading, and function and satisfaction were no longer different between groups. Improvements were maintained at 12 months after surgery (eversion-to-inversion strength mean difference, 8% body weight; 95% CI, −26% to 11%; p = 0.412; plantar loading, p > 0.251; function and satisfaction, p = 0.076). ROM remained less and foot alignment more supinated in the tibialis anterior tendon transfer group between baseline and followup (p < 0.001, p < 0.001).ConclusionsTibialis anterior tendon transfer surgery was an effective procedure, which at 12-month followup restored the balance of eversion-to-inversion strength and resulted in plantar loading and function and satisfaction outcomes similar to those of age-matched children with congenital talipes equinovarus who after Ponseti casting were not indicated for tibialis anterior tendon transfer.Level of EvidenceLevel III, therapeutic study. See Instructions for Authors for a complete description of levels of evidence.

Update on clubfoot

Congental talipes equinovarus, or clubfoot, remains one of the commonest congenital limb deformities. The genetics of this condition are not yet fully understood. It is increasingly being diagnosed on prenatal ultrasound with implications for prenatal counselling. With the widespread acceptance of the Ponseti method of clubfoot treatment major surgical interventions are needed much less frequently and long‐term outcomes are improved.

Unilateral versus bilateral clubfoot: an analysis of severity and correlation.

This study compares the severity of unilateral and bilateral clubfoot, and the correlation between right and left feet of bilateral cases. Sixty-six unilateral and 75 bilateral clubfoot patients were assessed for severity using the Pirani score at an average age of 12.9 days (SD 9 days). In bilateral cases, the severity of right and left feet was highly correlated (r=0.68). The odds of being very severe were 2.6 (95% confidence interval 1.3–5.1) times higher in bilateral cases (P=0.007). Bilateral and unilateral clubfeet present with differing severity. Right and left feet from bilateral cases are highly correlated. Researchers need to address these issues during study design and analysis.

Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: a randomised, double-blind, sham-controlled trial

BACKGROUND Exercise is potentially therapeutic for neuromuscular disorders, but a risk of harm exists due to overwork weakness. We aimed to assess the safety and efficacy of progressive resistance exercise for foot dorsiflexion weakness in children with Charcot-Marie-Tooth disease. METHODS We did this randomised, double-blind, sham-controlled trial across the Sydney Childrens Hospitals Network (NSW, Australia). Children aged 6-17 years with Charcot-Marie-Tooth disease were eligible if they had foot dorsiflexion weakness (negative Z score based on age-matched and sex-matched normative reference values). We randomly allocated (1:1) children, with random block sizes of 4, 6, and 8 and stratification by age, to receive 6 months (three times per week on non-consecutive days; 72 sessions in total) of progressive resistance training (from 50% to 70% of the most recent one repetition maximum) or sham training (negligible non-progressed intensity), using an adjustable exercise cuff to exercise the dorsiflexors of each foot. The primary efficacy outcome was the between-group difference in dorsiflexion strength assessed by hand-held dynamometry (expressed as a Z score) from baseline to months 6, 12, and 24. The primary safety outcome was the between-group difference in muscle and intramuscular fat volume of the anterior compartment of the lower leg assessed by MRI (expressed as a scaled volume) from baseline to 6 months and 24 months. Participants, parents, outcome evaluators, and investigators other than the treatment team were masked to treatment assignment. Analysis was by intention to treat. The trial is registered with the Australian New Zealand Clinical Trials Registry, number ACTRN12613000552785. FINDINGS From Sept 2, 2013, to Dec 11, 2014, we randomly assigned 60 children to receive progressive resistance exercise (n=30) or sham training (n=30), and 55 (92%) children completed the trial. ANCOVA-adjusted Z score differences in dorsiflexion strength between groups were 0 (95% CI -0·37 to 0·42; p=0·91) at 6 months, 0·3 (-0·23 to 0·81; p=0·27) at 12 months, and 0·6 (95% CI 0·03 to 1·12; p=0·041) at 24 months. Scaled muscle and fat volume was comparable between groups at 6 months (ANCOVA-adjusted muscle volume difference 0, 95% CI -0·03 to 0·10, p=0·24; and fat volume difference 0, 95% CI -0·01 to 0·05, p=0·25) and 24 months (0, -0·08 to 0·12, p=0·67; and 0, -0·05 to 0·03, p=0·58). No serious adverse events were reported. INTERPRETATION 6 months of targeted progressive resistance exercise attenuated long-term progression of dorsiflexion weakness without detrimental effect on muscle morphology or other signs of overwork weakness in paediatric patients with Charcot-Marie-Tooth disease. FUNDING Muscular Dystrophy Association and Australian National Health and Medical Research Council.

Biomechanical assessment of children requiring tibialis anterior surgical tendon transfer for residual congenital talipes equinovarus

Congenital talipes equinovarus (CTEV) is a deformity in which the foot is in structural equinus, varus, adductus and cavus and occurs in approximately 1 per 1000 births [1]. Despite good initial correction with the Ponseti technique, a tibialis anterior tendon transfer (TATT) is required in 20-25% of cases to correct residual dynamic supination observed during gait. Currently, no reliable or valid biomechanical measures exist to assess the need for, or effectiveness of, surgery.

Use of guidelines when planning home care of a girl with severe congenital myopathy.

We use issues that arose in the management of a 4‐year old girl with a congenital myopathy to consider the tension between respecting the choices and decisions of the childs parents and applying clinical practice guidelines that emphasise minimising risk to the child. This case raises the issue of when it is reasonable to override parents’ choice of management options.

The Ponseti technique and improved ankle dorsiflexion in children with relapsed clubfoot: a retrospective data analysis.

This study quantifies the change in passive ankle range of motion following modified Ponseti casting in children with relapsed idiopathic clubfoot. Fifty-three cases (feet) were retrospectively reviewed, with 6-month follow-up data available for 72% of participants. The median improvement in dorsiflexion was 15° (95% confidence interval: 12.5°–17.5°, P⩽0.05), with 85% achieving dorsiflexion≥10°. At the 6-month follow-up, dorsiflexion remained significantly improved and 12 feet (32%) presented with subsequent relapse. Nine were referred for further casting and three were recommended for extra-articular surgery. Repeat modified Ponseti management clinically and statistically improves passive ankle dorsiflexion in relapsed idiopathic clubfoot.