Fetal arthrogryposis-what do we tell the prospective parents?

Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo- and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case.

Patient- and Caregiver-Reported Outcome Measures after Single-Level Selective Dorsal Rhizotomy in Pediatric and Young Adult Patients with Spastic Cerebral Palsy.

INTRODUCTION: The aim of this cohort study was to assess the outcome of single-level selective dorsal rhizotomy (SDR) in children and young adults with spastic cerebral palsy (CP) treated at our institution, focusing on patient-reported outcome measures (PROMs) and quality of life (QoL) of patients and their caregivers. METHODS: We included consecutive patients undergoing SDR from 2018 to 2020 at our institution. Subjective outcome was measured through PROMs, while functional outcome was measured through baseline characteristics, operative outcome, as well as short- and long-term follow-up. Furthermore, the effect of age at the time of surgery on patient/caregiver satisfaction was analyzed. RESULTS: Seven patients (3 female, 43%) with a median age at surgery of 11.9 years (IQR 8.7-15.5) were included. All patients had a Gross Motor Function Classification (GMFCS) score of at least IV before surgery. Five surgeries were palliative and two non-palliative. Based on PROMs, SDR showed very good QoL and health-related outcome measures for both palliative and non-palliative patients. Patient/caregiver satisfaction was higher for the early subgroup (age ≤11) than the late subgroup (age >11). Functional outcome showed reduced spasticity in both groups. Blood transfusions were never needed, while no cerebrospinal fluid leak, infection, or permanent morbidity was seen. CONCLUSION: Based on PROMs, SDR leads to high satisfaction and improved QoL, especially if done at an early age. Further studies with larger cohorts are necessary to underline and confirm our observations.

Long-term results and outcome predictors in one-stage hip reconstruction in children with cerebral palsy.

BACKGROUND: One-stage hip reconstruction is the gold standard for treatment of hip displacement in children with cerebral palsy. The aims of this study were (1) to report the subjective clinical, objective clinical, and radiographic outcomes; and (2) to investigate outcome predictors, including the influence of the following risk factors: femoral head shape, migration percentage, direction of migration, and age at surgery. METHODS: We reviewed 168 hip reconstructions (eighty-two right, eighty-six left) in 121 patients (101 male, twenty female) at a mean follow-up of 7.3 ± 4.6 years (range, four to eighteen years). Surgical outcomes were assessed on the basis of the pain intensity and frequency (measured on 10-point visual analog scales) as well as GMFCS (Gross Motor Function Classification System) and MCPHCS (Melbourne Cerebral Palsy Hip Classification System) scores and postoperative migration percentage. The effects of femoral head shape, preoperative migration percentage, direction of migration, and age at surgery on surgical outcome were assessed by multivariate regression adjusting for potential confounders including sex, triradiate cartilage status, type of cerebral palsy, and surgical technique. RESULTS: Pain intensity and frequency were reduced significantly. Preoperative femoral head shape had no significant effect on the changes in pain, MCPHCS grade, and GMFCS level. The preoperative migration percentage was the most influential risk factor with respect to postoperative outcome. Age at surgery had no effect on the changes in pain score and GMFCS level. The overall surgical complication rate was 10.5%. CONCLUSIONS: Our data on 168 hip reconstructions at a mean follow-up of seven years showed significant and clinically meaningful improvements in pain intensity and frequency as well as in clinical scores and hip coverage. Analysis of potential risk factors showed only the preoperative migration percentage to have a relevant influence on outcomes.