Background: Idiopathic clubfoot, also referred to as congenital talipes equinovarus (CTEV), is one of the most common lower limb deformities observed in newborns, leading to significant functional impairment if untreated. The aims of this study were to (1) assess the developmental milestones in patients with CTEV treated by the Ponseti technique, and to compare them to the unaffected controls; (2) evaluate the possible correlation between developmental milestones, severity of the deformity, and number of casts.
Materials And Methods: Seventy-nine subjects were divided into two groups, CTEV group (43 patients; 72 feet) and control group (36 patients). Age, sex, affected side, attainment of babbles (BAL), independent gait (IG), and combined word (CW) were recorded for all patients. In patients with CTEV, Pirani Score (PRS), number of casts (NC), and clinical outcome were collected according to the Clubfoot Assessment Protocol (CAP), The American Orthopedic Foot and Ankle Score (AOFAS), and Foot and Ankle Disability Index (FADI).
Results: IG was achieved later later than the unaffected controls by 12/43 patients (27.9%) with CTEV and 3/36 patients in the control group (8.3%) ( = 0.04) and in a mean time of 16.8 ± 3.5 months and 13.2 ± 2.7 months, respectively ( = 0.001). In the CTEV group the mean value of CAP was 98.6 ± 4.7, of AOFAS of 98.4 ± 4.4 and of FADI equal to 99.9 ± 0.44. There were no statistically significant differences for BAL and CW; and no correlation with PRS, NC, or clinical score were identified.
Conclusion: CTEV patients managed by the Ponseti technique achieve independent gait later than the unaffected controls, although they do so within the age limit of developmental. On the other hand, the Ponseti treatment has no impact on attainment of language development.
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http://dx.doi.org/10.3389/fped.2022.869401 | DOI Listing |
Genet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFNeurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
J Family Med Prim Care
December 2024
Department of Pediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, New Delhi, India.
Background: Early identification of developmental delay in children can help in making early intervention for its management. Routine developmental screening is not being practised in India due to lack of trained field workers, lack of awareness among parents and lack of feasible assessment screening tool. There is lack of studies that focuses on home environment provided to the children as it is associated with developmental delay.
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