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Background: In 2020, a multiprofessional panel was set up in collaboration with the Italian FightTheStroke Foundation family association to produce evidence-based recommendations for the management and neuromotor rehabilitation of persons with cerebral palsy aged 2–18 years to implement in clinical practice in Italy. Methods: The recommendations of these care pathways were developed according to the American Academy for Cerebral Palsy and Developmental Medicine guidelines for Care Pathways Development and the Grading of Recommendations Assessment Development and Evaluation working group for adoption, adaptation, or de novo development of recommendations from high-quality guidelines (GRADE-ADOLOPMENT). Results: Four strong positive recommendations were developed regarding comprehensive management, and twenty-four addressed neuromotor treatment. Conclusions: A holistic, individualized approach was affirmed in terms of both multidimensional patient profile and interdisciplinary management in a network with the school where children and adolescents are integrated. It was defined that all motor rehabilitation approaches must be individually tailored considering age and developmentally appropriate activities as interventions and goals, in light of the reference curves addressing prognosis for Gross Motor Function and Manual Ability Classification Systems. Intervention must be structured with adaptations of the task and/or of the context (objects and environment) based on the analysis of the child's skills to support motivation and avoid frustration. [ABSTRACT FROM AUTHOR]

The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys–Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis. [ABSTRACT FROM AUTHOR]

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis. [ABSTRACT FROM AUTHOR]

The objective of the study was to describe adverse events detected clinically or in the laboratory that were secondary to the use of antiretroviral agents among individuals undergoing antiretroviral prophylaxis. Evaluations were performed on 37 teaching hospital employees who underwent prophylaxis using four regimens of antiretroviral medication following occupational exposition to contaminated fluids from patients with human immunodeficiency virus infection. Thirty-two (86.5%) developed adverse events detected clinically or in the laboratory. The prophylaxis administered to two professionals (5.4%) had to be suspended because of the reactions that occurred. Adverse events relating to prophylaxis for HIV infection in health care workers who were victims of occupational accidents were frequent. However, it was rarely necessary to withdraw the antiretroviral medication.