Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life

The general movement assessment in non-European low- and middle-income countries

Abnormal general movements are among the most reliable markers for cerebral palsy. General movements are part of the spontaneous motor repertoire and are present from early fetal life until the end of the first half year after term. In addition to its high sensitivity (98%) and specificity (91%), the assessment of general movements is non-invasive and time- and cost-efficient. It is therefore ideal for assessing the integrity of the young nervous system, most notably in lowresource settings. Studies on the general movements assessment in low- and middle-income countries such as China, India, Iran, or South Africa are still rare but increasing. In Brazil, too, researchers have demonstrated that the evaluation of general movements adds to the functional assessment of the young nervous system. Applying general movements assessment in vulnerable populations in Brazil is therefore highly recommended

Early markers for cerebral palsy:Insights from the assessment of general movements

Overt clinical symptoms of cerebral palsy do not emerge before a child is at least half a year old. Among the most reliable early markers for cerebral palsy are abnormal 'general movements (GMs). Two specific abnormal GM patterns predict cerebral palsy: cramped-synchronized GMs (during preterm and term age), which lack the usual smoothness and fluent character; and limb and trunk muscles contract almost simultaneously and relax almost simultaneously. In addition, the absence of so-called fidgety movements at 3-5 months post-term age. Fidgety movements are small movements of the neck, trunk and limbs in all directions and of variable acceleration. Beside a high sensitivity (&gt;91%) and specificity (&gt;81%), the assessment of GMs is quick, nonintrusive and easy to acquire.</p

Clinical Implications of the General Movement Optimality Score:Beyond the Classes of Rasch Analysis

This article explores the clinical implications of the three different classes drawn from a Rasch analysis of the general movements optimality scores (GMOS) of 383 infants. Parametric analysis of the class membership examines four variables: age of assessment, brain injury presence, general movement patterns, and 2-year-old outcomes. GMOS separated infants with typical (class 3) from atypical development, and further separated cerebral palsy (class 2) from other neurodevelopmental disorders (class 1). Each class is unique regarding its quantitative and qualitative representations on the four variables. The GMOS has strong psychometric properties and provides a quantitative measure of early motor functions. The GMOS can be confidently used to assist with early diagnosis and predict distinct classes of developmental outcomes, grade motor behaviors, and provide a solid base to study individual general movement developmental trajectories

Changing the perspective on early development of Rett syndrome

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome (MECP2 positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of speech-language capacities, suggesting a paradigm shift in the pathogenesis of Rett syndrome and a possible approach to its early detection

Open video data sharing in developmental and behavioural science

Video recording is a widely used method for documenting infant and child behaviours in research and clinical practice. Video data has rarely been shared due to ethical concerns of confidentiality, although the need of shared large-scaled datasets remains increasing. This demand is even more imperative when data-driven computer-based approaches are involved, such as screening tools to complement clinical assessments. To share data while abiding by privacy protection rules, a critical question arises whether efforts at data de-identification reduce data utility? We addressed this question by showcasing the Prechtl's general movements assessment (GMA), an established and globally practised video-based diagnostic tool in early infancy for detecting neurological deficits, such as cerebral palsy. To date, no shared expert-annotated large data repositories for infant movement analyses exist. Such datasets would massively benefit training and recalibration of human assessors and the development of computer-based approaches. In the current study, sequences from a prospective longitudinal infant cohort with a total of 19451 available general movements video snippets were randomly selected for human clinical reasoning and computer-based analysis. We demonstrated for the first time that pseudonymisation by face-blurring video recordings is a viable approach. The video redaction did not affect classification accuracy for either human assessors or computer vision methods, suggesting an adequate and easy-to-apply solution for sharing movement video data. We call for further explorations into efficient and privacy rule-conforming approaches for deidentifying video data in scientific and clinical fields beyond movement assessments. These approaches shall enable sharing and merging stand-alone video datasets into large data pools to advance science and public health

Neurodevelopment in the third year of life in children with antenatal ZIKV-exposure

We report cognitive, language and motor neurodevelopment, assessed by the Bayley-III test, in 31 non-microcephalic children at age 3 with PCR-confirmed maternal Zika virus exposure (Rio de Janeiro, 2015–2016). Most children had average neurodevelopmental scores, however, 8 children (26%) presented delay in some domain. Language was the most affected: 7 children (22.6%) had a delay in this domain (2 presenting severe delay). Moderate delay was detected in the cognitive (3.2%) and motor (10%) domains. Maternal illness in the third trimester of pregnancy and later gestational age at birth were associated with higher Bayley-III scores. Zika-exposed children require long-term follow-up until school age