Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study.

Background: The aim of this study was to characterize hereditary spastic paraplegias (HSP) patients' urodynamic profiles and development of bladder symptoms.

Methods: This is a multicentric retrospective study which included patients presenting with bladder disorders. We reviewed medical and urodynamic records in individuals with HSP and recorded age at onset of gait and bladder disorders, disability stage at the time of urodynamic assessment.

Effects of shear stress on mesenchymal stem cells of patients with osteogenesis imperfecta.

Introduction: Osteogenesis imperfecta (OI) is a rare genetic bone disorder, mainly caused by autosomal dominant mutations of the COL1A1 or COL1A2 genes that encode the alpha chains of type 1 collagen. In severe forms and in nonambulatory patients, for whom physical exercise is difficult, exposing the bone to mechanical stimuli by promoting movement, especially with physiotherapy and mobility aids, is an essential part of clinical practice. However, the effects of mechanical stimulation at the cellular level remain unknown for this disease.

[Urinary incontinence in children].

URINARY INCONTINENCE IN CHILDREN. Urinary incontinence in children and adolescents is most often of functional origin. Questioning and clinical examination with a bladder diary should look for underlying urological or neurological causes.

The upper limb in children with cerebral palsy. Evaluation and treatment.

Management of the upper limb in children with cerebral palsy is often complex and must be carried out by a team experienced in this field. Several clinical parameters must be taken into consideration, such as higher functions, visual problems, overall upper limb function, motor control, sensitivity, presence of hemineglect or synkinesis, limb position at rest and during walking. And last but not least, a complete analysis of the upper limb is required.

Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.

Background: Phenotypic variability is a consistent finding in neurogenetics and therefore applicable to hereditary spastic paraparesis. Identifying reasons for this variability is a challenge. We hypothesized that, in addition to genetic modifiers, extrinsic factors influence variability.

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Background And Objectives: In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is a prospective, longitudinal observational study of patients with spinocerebellar ataxia type 1 (SCA1) and 3 (SCA3) to provide essential markers for therapeutic interventions. We looked for clinical, imaging, or biological markers that are present at an early stage of the disease.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Purpose: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influences microtubule dynamics, are associated with earlier onset and more severe disease than truncating variants, but even within the early and late-onset groups there remained significant differences in onset. Given the rarity of the condition, we adapted an extreme phenotype approach to identify genetic modifiers of onset.

The Myelic Limited Dorsal Malformation: Prenatal Ultrasonographic Characteristics of an Intermediate Form of Dysraphism.

Objectives: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US).

Methods: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered.

Upper limb kinematics after Latissimus Dorsi transfer in children with brachial plexus birth palsy.

Background: Brachial plexus birth palsy remains a frequent condition and one of its treatments is to transfer the Latissimus Dorsi tendon to the infraspinatus muscle. The aim of this study was to analyse, for the first time, the three-dimensional kinematic effects of this operation on the upper limb joints during the five Mallet tasks and their correlation with clinical parameters.

Methods: Kinematic analysis was performed using an electromagnetic device.

Recent advances in understanding hereditary spastic paraplegias and emerging therapies.

Hereditary spastic paraplegias (HSPs) are a group of rare, inherited, neurological diseases characterized by broad clinical and genetic heterogeneity. Lower-limb spasticity with first motoneuron involvement is the core symptom of all HSPs. As spasticity is a syndrome and not a disease, it develops on top of other neurological signs (ataxia, dystonia, and parkinsonism).

Ultrasound shearwave elastography to characterize muscles of healthy and cerebral palsy children.

Shear wave elastography (SWE) is an ultrasound technique to obtain soft tissue mechanical properties. The aim of this study was to establish the reliability of SWE in young children, define reference data on healthy ones and compare the shear modulus of healthy and spastic muscles from cerebral palsy (CP). The reproducibility is evaluated: at rest, on 7 children without any musculoskeletal pathology by 3 different operators, on 2 muscles: biceps brachii long head and medial gastrocnemius.

Diagnosis, follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta.

Objectives: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep-disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB.