The General Movement Assessment Helps Us to Identify Preterm Infants at Risk for Cognitive Dysfunction

Apart from motor and behavioral dysfunctions, deficits in cognitive skills are among the well-documented sequelae of preterm birth. However, early identification of infants at risk for poor cognition is still a challenge, as no clear association between pathological findings based on neuroimaging scans and cognitive functions have been detected as yet. The Prechtl General Movement Assessment (GMA) has shown its merits for the evaluation of the integrity of the young nervous system. It is a reliable tool for identifying infants at risk for neuromotor deficits. Recent studies on preterm infants demonstrate that abnormal general movements also reflect impairments of brain areas involved in cognitive development. The aim of this systematic review was to discuss studies that included (i) the Prechtl GMA applied in preterm infants, and (ii) cognitive outcome measures in six data bases. Seven studies met the inclusion criteria and yielded the following results: (a) children born preterm with consistently abnormal general movements up to 8 weeks after term had lower intelligence quotients at school age than children with an early normalization of general movements; (b) from 3 to 5 months after term, several qualitative and quantitative aspects of the concurrent motor repertoire, including postural patterns, were predictive of intelligence at 7 to 10 years of age. These findings in 428 individuals born preterm suggest that normal general movements along with a normal motor repertoire during the first months after term are markers for normal cognitive development until at least age 10

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

Vocalisation repertoire at the end of the first year of life: an exploratory comparison of Rett syndrome and typical development

Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based on home video recordings, we analysed the vocalisations between 9 and 11 months of age of three female infants with typical RTT and compared them to three age-matched typically developing (TD) female controls. The video material of the infants had a total duration of 424 min with 1655 infant vocalisations. For each month, we (1) calculated the infants’ canonical babbling ratios with CBR(UTTER), i.e., the ratio of number of utterances containing canonical syllables to total number of utterances, and (2) classified their pre-linguistic vocalisations in three non-canonical and four canonical vocalisation subtypes. All infants achieved the milestone of canonical babbling at 9 months of age according to their canonical babbling ratios, i.e. CBR(UTTER) ≥ 0.15. We revealed overall lower CBRs(UTTER) and a lower proportion of canonical pre-linguistic vocalisations consisting of well-formed sounds that could serve as parts of target-language words for the RTT group compared to the TD group. Further studies with more data from individuals with RTT are needed to study the atypicalities in the pre-linguistic vocalisation repertoire which may portend the later deficits in spoken language that are characteristic features of RTT

Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome

Fragile X syndrome (FXS) and Rett syndrome (RTT) are developmental disorders currently not diagnosed before toddlerhood. Even though speech-language deficits are among the key symptoms of both conditions, little is known about infant vocalisation acoustics for an automatic earlier identification of affected individuals. To bridge this gap, we applied intelligent audio analysis methodology to a compact dataset of 4454 home-recorded vocalisations of 3 individuals with FXS and 3 individuals with RTT aged 6 to 11 months, as well as 6 age- and gender-matched typically developing controls (TD). On the basis of a standardised set of 88 acoustic features, we trained linear kernel support vector machines to evaluate the feasibility of automatic classification of (a) FXS vs TD, (b) RTT vs TD, (c) atypical development (FXS+RTT) vs TD, and (d) FXS vs RTT vs TD. In paradigms (a)–(c), all infants were correctly classified; in paradigm (d), 9 of 12 were so. Spectral/cepstral and energy-related features were most relevant for classification across all paradigms. Despite the small sample size, this study reveals new insights into early vocalisation characteristics in FXS and RTT, and provides technical underpinnings for a future earlier identification of affected individuals, enabling earlier intervention and family counselling

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

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

Virtual reality and naturalistic developmental behavioral interventions for children with autism spectrum disorder

© 2021 The Author(s).Background: Naturalistic Developmental Behavioral Interventions (NDBI) have been evaluated as the most promising interventions for children with autism spectrum disorder. In recent years, a growing body of literature suggests that technological advancements such as Virtual Reality (VR) are promising intervention tools. However, to the best of our knowledge no studies have combined evidence-based practice with such tools. Aim: This article aims to review the current literature combining NDBI and VR, and provide suggestions on merging NDBI-approaches with VR. Methods: This article is divided into two parts, where we first conduct a review mapping the research applying NDBI-approaches in VR. In the second part we argue how to apply the common features of NDBI into VR-technology. Results: Our findings show that no VR-studies explicitly rely on NDBI-approaches, but some utilize elements in their interventions that are considered to be common features to NDBI. Conclusions and implications: As the results show, to date, no VR-based studies have utilized NDBI in their intervention. We therefore, in the second part of this article, suggests ways to merge VR and NDBI and introduce the term Virtual Naturalistic Developmental Behavioral Interventions (VNDBI). VNDBI is an innovative way of implementing NDBI which will contribute in making interventions more accessible in central as well as remote locations, while reducing unwanted variation between service sites. VNDBI will advance the possibilities of individually tailoring and widen the area of interventions. In addition, VNDBI can provide the field with new knowledge on effective components enhancing the accuracy in the intervention packages and thus move forward the research field and clinical practice.publishedVersio