Peter B Marschik

• Mphil Dphil PhD DMsc
• Managing Director at University Medical Center Goettingen / Karolinska Institutet / Medical University of Graz

Background To assess the integrity of the developing nervous system, the Prechtl general movement assessment (GMA) is recognized for its clinical value in diagnosing neurological impairments in early infancy. GMA has been increasingly augmented through machine learning approaches intending to scale-up its application, circumvent costs in the traini...

OPEN ACCESS: https://onlinelibrary.wiley.com/doi/full/10.1002/hrm.22259 Growing recognition of neurodivergence amongst individuals poses challenges for career counselors and human resource practitioners when advising, guiding, and supporting the careers of this diverse group. Despite the potential for neurodivergent individuals to contribute to or...

There are increasing efforts to automate clinical methods for early diagnosis of developmental disorders, among them the General Movement Assessment (GMA), a video-based tool to classify infant motor functioning. Optimal pose estimation is a crucial part of the automated GMA. In this study we compare the performance of available generic- and infant...

Functioning is a construct capturing how an individual’s engagement in everyday life emerges from the interaction between the individual and their environment. The World Health Organization’s International Classification of Functioning, Disability and Health (ICF) provides a biopsychosocial framework of functioning. Previously, the ICF was adapted...

There is a recent boom in the development of AI solutions to facilitate and enhance diagnostic procedures for established clinical tools. To assess the integrity of the developing nervous system, the Prechtl general movement assessment (GMA) is recognized for its clinical value in the diagnosis of neurological impairments in early infancy. GMA has...

It is unclear if SARS CoV-2 infection during pregnancy is associated with adverse neurodevelopmental repercussions to infants. We assessed pediatric neurodevelopmental outcomes in children born to mothers with laboratory-confirmed SARS CoV-2 infection during pregnancy. Neurodevelopmental outcomes of in-utero exposed children were compared to that o...

Background: The general movement optimality score (GMOS) quantifies the details of general movements (GMs). We recently conducted psychometric analyses of the GMOS and developed a revised scoresheet. Consequently, the GMOS-Revised (GMOS-R) instrument necessitated validation using new percentile ranks. This study aimed to provide these percentile ra...

Aim To conduct the first revision of the World Health Organization International Classification of Functioning, Disability and Health (ICF) Core Sets for attention‐deficit/hyperactivity disorder (ADHD). Method A Delphi‐like method was used, integrating evidence from stakeholder feedback and developing and piloting the ADHD ICF Core Set platform to...

Premature birth imposes considerable challenges on the preterm infant, but also challenges the mother, who may not yet be prepared for motherhood and encounter psychological stress during the post-partum period. This secondary analysis of a prospective randomized controlled trial (RCT) aimed to investigate how mothers perceive their preterm infants...

Background Aiming at objective early detection of neuromotor disorders such as cerebral palsy, we propose an innovative non-intrusive approach using a pressure sensing device to classify infant general movements. Here we differentiate typical general movement patterns of the “fidgety period” (fidgety movements) vs. the “pre-fidgety period” (writhin...

Due to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic. Stud...

Zusammenfassung: Im Laufe ihrer Entwicklung eignen sich Kinder Sprache als komplexes Regelsystem und als Kommunikationsmittel an. Der Erwerb dieser Kompetenzen ist ein vielschichtiger Prozess, der die Spracherwerbsforschung seit Langem beschäftigt. In jeder Lebensphase stehen spezifische Erwerbsaufgaben im Vordergrund: Säuglinge können das Sprachan...

Zusammenfassung: Theoretischer Hintergrund: Die frühe verbale Entwicklung ist vor allem in ihrer Entstehungsphase noch nicht vollständig verstanden. Fragestellung: lässt sich ein zuverlässiges, einfach anzuwendendes Kodierschema zur Klassifizierung frühkindlicher Vokalisationen definieren, das als Grundlage für die weitere Analyse der Sprachentwick...

The Prechtl General Movements Assessment (GMA) has become a clinician and researcher toolbox for evaluating neurodevelopment in early infancy. Given that it involves the observation of infant movements from video recordings, utilising smartphone applications to obtain these recordings seems like the natural progression for the field. In this review...

Background: Infants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous ones. Aims and methods: Extending a previous study with predominantly non-parents, the present study sampled parents o...

The Prechtl General Movements Assessment (GMA) has become a clinician and researcher tool-box for evaluating neurodevelopment in early infancy. Given it involves observation of infant movements from video recordings, utilising smartphone applications to obtain these recordings seems like the natural progression for the field. In this review, we loo...

Background: Infants with Rett syndrome (RTT) may have subtle anomalies in their prelinguistic vocalisations but the detection of these is difficult, since their conspicuous vocalisations are often interspersed with inconspicuous ones. Aims and methods: Extending a previous study with predominantly non-parents, the present study sampled parents of c...

Theoretical background: early verbal development is not yet fully understood, especially in its formative phase. Research question: can a reliable, easy-to-use coding scheme for the classification of early infant vocalizations be defined that is applicable as a basis for further analysis of language development? Methods: in a longitudinal study of...

In behavioral research and clinical practice video data has rarely been shared or pooled across sites due to ethical concerns of confidentiality, although the need of shared large-scaled datasets remains increasing. This demand is even more imperative when data-heavy computer-based approaches are involved. To share data while abiding by privacy pro...

Aim: To assess the inter-assessor reliability of the Motor Optimality Score-Revised (MOS-R) when used in infants at elevated likelihood for adverse neurological outcome. Methods: MOS-R were assessed in three groups of infants by two assessors/cohort. Infants were recruited from longitudinal projects in Sweden (infants born extremely preterm), In...

Health-related conditions often difer qualitatively or quantitatively between individuals of diferent birth-assigned sexes and gender identities, and/or with diferent gendered experiences, requiring tailored care. Studying the moderating and mediating efects of sexrelated and gender-related factors on impairment, disability, wellbeing and health is...

Objective To evaluate neuromotor repertoires and developmental milestones in infants exposed to antenatal COVID-19. Design Longitudinal cohort study. Setting Hospital-based study in Los Angeles, USA and Rio de Janeiro, Brazil between March 2020 and December 2021. Participants Infants born to mothers with COVID-19 during pregnancy and prepandemic...

With the increasing worldwide application of the Prechtl general movements assessment (GMA) beyond its original field of the early prediction of cerebral palsy (CP), substantial knowledge has been gained on early neuromotor repertoires across a broad spectrum of diagnostic groups. Here, we aimed to profile the neuromotor functions of infants with P...

Preterm delivery is a stressful event for mothers, posing them at risk for post-traumatic stress reactions. This study examined the degree of depressive symptoms and post-traumatic stress in mothers of preterm infants born before 32 gestational weeks depending on whether the infant received music therapy in the neonatal intensive care unit (NICU) o...

Background: Developmental disabilities are disproportionately more investigated in higher-income countries. However, global prevalence of developmental disabilities indicate that a large proportion of individuals with disabilities reside in low- and middle-income nations. Aims: The present work therefore aims to conduct a scientometric review to...

Objectives Research on typically developing (TD) children and those with neurodevelopmental disorders and genetic syndromes was targeted. Specifically, studies on autism spectrum disorder, Down syndrome, Rett syndrome, fragile X syndrome, cerebral palsy, Angelman syndrome, tuberous sclerosis complex, Williams-Beuren syndrome, Cri-du-chat 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 appli...

In recent years, numerous automated approaches complementing the human Prechtl's general movements assessment (GMA) were developed. Most approaches utilised RGB or RGB-D cameras to obtain motion data, while a few employed accelerometers or inertial measurement units. In this paper, within a prospective longitudinal infant cohort study applying a mu...

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...

Background Diagnostic assessment of ASD requires substantial clinical experience and is particularly difficult in the context of other disorders with behavioral symptoms in the domain of social interaction and communication. Observation measures such as the Autism Diagnostic Observation Schedule (ADOS) do not take into account such co‐occurring dis...

Background The current SARS-CoV-2 global pandemic presents a great challenge for governments, health care professionals and the general population. Individuals with autism spectrum disorder (ASD) might be especially vulnerable to restrictions imposed by the crisis. Aim The objective of the study was to examine the impact of the SARSCoV- 2 pandemic...

Zusammenfassung Hintergrund Einheitliche Empfehlungen für stationäre und ambulante Physiotherapie bei Frühgeborenen fehlen in Deutschland. Ziel dieser Studie war die Untersuchung der Verordnungspraxis deutscher Perinatalzentren. Werden standardisierte Assessments zur Indikationsstellung genutzt? Welchen Stellenwert nimmt das General Movements Asses...

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...

Background A significant proportion of variation in likelihood of neurodevelopmental conditions (NDCs) has been attributed to nonshared environmental (NSE) factors, although it remains unclear which NSE factors pose specific risks for certain NDCs. Methods A monozygotic co-twin design was applied in a sample of 224 twins (mean age = 17.70 years, S...

Theories of visual attention suggest a cascading development of subfunctions such as alertness, spatial orientation, attention to object features, and endogenous control. Here, we aimed to track infants’ visual developmental steps from a primarily exogenously to more endogenously controlled processing style during their first months of life. In thi...

Background: Identify early predictors of poor neurodevelopment in infants with antenatal Zika virus (ZIKV) exposure. Methods: Analysis of a prospective cohort of infants with antenatal ZIKV exposure confirmed by maternal or infant RT-PCR or IgM during the epidemic in Rio de Janeiro, Brazil. Clinical findings before 3 months of age were associate...

Children with autism spectrum disorder (ASD) show difficulties in social communication behaviors, emotion regulation and daily living skills, and they frequently present with challenging behaviors. In parents of children with ASD, higher rates of stress and mental health problems have been reported than in parents of either typically developing chi...

Objectives This study assessed a new technology system that automatically presented instructions for multistep activities to people with intellectual and sensory disabilities. The instructions were presented one at a time, and tied to the participants’ performance of the activity steps. That is, a new instruction occurred only after the participant...

Background Diagnostic assessment of ASD requires substantial clinical experience and is particular difficult in the context of other disorders with behavioral symptoms in the domain of social interaction and communication. Observation measures such as the Autism Diagnostic Observation Schedule (ADOS) do not take into account such comorbid and diffe...

The use of technology-based assessments to detect and/or confirm developmental disabilities, measure intervention effects, or monitor developmental trajectories has enormously increased in recent decades. However, even as striking basic science insights have reached our attention, the impact on early detection and intervention is still limited. As...

Background: Non-shared environment (NSE) effects account for around one-third of the etiology of autism spectrum disorder (ASD). However, the knowledge of mechanisms and phenotypic profiles associated with NSE in ASD is scarce. Methods: A systematic search was conducted using Embase, MEDLINE, and PsycINFO for studies published in English between...

The past decade has evinced a boom of computer-based approaches to aid movement assessment in early infancy. Increasing interests have been dedicated to develop AI driven approaches to complement the classic Prechtl general movements assessment (GMA). This study proposes a novel machine learning algorithm to detect an age-specific movement pattern,...

The study of the onset and ontogeny of human behaviour has made it clear that a multitude of fetal movement patterns are spontaneously generated, and that there is a close association between activity and the development of peripheral and central structures. The embryo starts moving by 7.5 week’s gestation; 2 to 3 weeks later, a number of movement...

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 affecte...

Neurodevelopmental disorders (NDDs), such as autism and ADHD, are behaviorally defined adaptive functioning difficulties arising from variations, alterations and atypical maturation of the brain. While it is widely agreed that NDDs are complex conditions with their presentation and functional impact underpinned by diverse genetic and environmental...

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...

Background The clinical and scientific value of Prechtl general movement assessment (GMA) has been increasingly recognised, which has extended beyond the detection of cerebral palsy throughout the years. With advancing computer science, a surging interest in developing automated GMA emerges. Aims In this scoping review, we focused on video-based a...

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 kn...

Zusammenfassung. Theoretischer Hintergrund: Die von Central Pattern Generators (CPGs) generierten Bewegungen des Neugeborenen und jungen Säuglings haben eine lange pränatale Vorgeschichte. Fragestellung: Welche Bedeutung hat die Analyse der CPG-Aktivität, besonders der General Movements (GMs) in der entwicklungsneurologischen Diagnostik? Methode: U...

Zusammenfassung. Theoretischer Hintergrund: Forschungsergebnisse zum frühen Spracherwerb bei Kindern mit spät erkannten Entwicklungsstörungen sind inkonsistent und angesichts unterschiedlicher Forschungsparadigmen und Definitionen nur bedingt vergleichbar. Fragestellung: Ziel dieser Übersichtsarbeit ist es, das Potenzial früher verbaler Fähigkeiten...

Zusammenfassung. Es werden Themen der kindlichen Entwicklung vom Fötus bis hin zum Schulalter ausgeführt: Beginnend bei fötaler Motorik und dem Entstehen menschlichen Verhaltens, über Entwicklungsverläufe bei Frühgeburtlichkeit oder permanenter Hörstörung, sprachspezifische Marker zur Früherkennung von Neuroentwicklungsstörungen, bis hin zu neurost...

Human preverbal development refers to the period of steadily increasing vocal capacities until the emergence of a child’s first meaningful words. Over the last decades, research has intensively focused on preverbal behavior in typical development. Preverbal vocal patterns have been phonetically classified and acoustically characterized. More recent...

Background Identifying altered motor development at an early stage is crucial for infants born extremely preterm (EPT), as they face a high risk of long-term neurodevelopmental impairment. The Prechtl General Movement Assessment (GMA), including the Motor Optimality Score Revised (MOS-R), can provide important insights into these infants’ later neu...

Introduction: Around 9% of India's children under six are diagnosed with neurodevelopmental disorders. Low-resource, rural communities often lack programmes for early identification and intervention. The Prechtl General Movement Assessment (GMA) is regarded as the best clinical tool to predict cerebral palsy in infants <5 months. In addition, chil...

To improve the neurodevelopmental outcome in infants with high grade intraventricular haemorrhage and cramped-synchronised (CS) general movements (GMs). Four very preterm infants with intraventricular haemorrhage grade III (n = 3) or intraventricular haemorrhage with apparent periventricular haemorrhagic infarction (n = 1) were diagnosed with CS GM...

In this overview of the two neurodevelopmental disorders, intellectual disabilities and autism spectrum disorders we systematically searched the literature for scientific publications of group-based designs that tested various interventions through the use of Virtual Reality technology. After screening of a total of n = 366 publications, n = 13 stu...

Prelexical phonetic capacities have widely been described to be a precursor for later speech and language development. However, studies so far varied greatly in the measurements used for the detection of canonical babbling onset or the description of infants’ phonetic capacities at one or more set time points. The comparability of results is, there...

Aim: To explore the psychometric properties of the general movements optimality score (GMOS) by examining its dimensionality, rating scale functioning, and item hierarchies using Rasch measurement. Methods: Secondary data analysis of the GMOS data for video-recording of 383 infants with uni-, multidimensional, and mixed Rasch partial credit mode...

The Prechtl General Movement Assessment (GMA) has become a cornerstone assessment in early identification of cerebral palsy (CP), particularly during the fidgety movement period at 3– 5 months of age. Additionally, assessment of motor repertoire, such as antigravity movements and postural patterns, which form the Motor Optimality Score (MOS), may p...

Identifying the early signs of developmental disability is important for ensuring timely diagnosis and early intervention. Day-care workers may be in a prime position to notice potential developmental deviations, but it is unclear if they can accurately recognize subtle early signs of atypical development. Sixty day-care workers examined home-video...

Purpose of Review To summarize findings about the emergence and characteristics of canonical babbling in children with late detected developmental disorders (LDDDs), such as autism spectrum disorder, Rett syndrome, and fragile X syndrome. In particular, we ask whether infants’ vocal development in the first year of life contains any markers that ma...

We report neurodevelopmental outcomes in 216 infants followed since the time of PCR-confirmed maternal Zika virus (ZIKV) infection in pregnancy during the Rio de Janeiro epidemic of 2015–2016 (refs. 1,2). Neurodevelopment was assessed by Bayley Scales of Infant and Toddler Development, third edition (Bayley-III; cognitive, language and motor domain...

Acoustic geo-sensing deals with the derivation of spatial information from audio data. Motivated by the rising field of sensing information in (smart) cities, we present current perspectives and a methodological update on the acoustic-based solution of recognition problems in a complex urban real-world scenario. In particular, we examine a static a...

PSV Preserved speech variant RTT Rett syndrome AIM Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development...

Autism spectrum disorder is characterized by social and communication impairment, but some children appear to have relative strength in areas such as reading printed words. The present study involved two children with limited expressive communication skills, but relatively stronger reading ability. Based on this existing strength, we evaluated a te...

Autism spectrum disorder (ASD) is a neurodevelopmental condition of heterogeneous etiology. While it is widely recognized that genetic and environmental factors and their interactions contribute to autism phenotypes, their precise causal mechanisms remain poorly understood. This article reviews our current understanding of environmental risk factor...

Historically, two onset patterns in autism spectrum disorder (ASD) were described: early onset of symptoms and regression in which one-third appear to show a loss of previously established skills in the second year of life. Since this phenomenon could represent a distinct ASD subtype and provide more insight into the etiology, diagnosis, and progno...

Background Early intervention for children identified as late talkers (LTs) at the age of 24 months is still a controversial issue in research and clinical routine. Previous studies have shown inconsistent results regarding predictors of early lexical deficits on school‐age outcomes of late‐talking toddlers. Methods In a five‐wave follow‐up study...

Rett syndrome (RTT) is an X-linked genetic disorder that occurs predominantly in females. The clinical picture associated with RTT is defined by core and supportive consensus criteria, with a period of behavioural regression being a conditio sine qua non. This review sheds light on atypical neurofunctions and potential behavioural biomarkers before...

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder. Infants with PWS show a neurodevelopmental dysfunction which entails a delayed motor and language development, but studies on their spontaneous movements (i.e. general movements) or pre-linguistic speech-language development before 6 months of age are missing so far. Aim: To descri...

Children born preterm (PT) have a higher risk of language delays than children born full-term (FT). Expressive vocabulary plays a central role in language development, as later grammar ability can be predicted from earlier vocabulary size. To determine the effects of preterm birth on expressive vocabulary at the age of 36 to 41 months. Cross-sectio...

Importance There is an urgent need to assess neurodevelopment in Zika virus (ZIKV)–exposed infants. Objectives To perform general movement assessment (GMA) at 9 to 20 weeks’ postterm age and to evaluate whether the findings are associated with neurodevelopmental outcomes at age 12 months in infants prenatally exposed to acute maternal illness with...

eAppendix. Supplemental Appendix

Developmental regression is characteristic of Rett syndrome and it also occurs in a number of other developmental disabilities. To assist clinicians in identifying promising therapeutic approaches, we identified 38 studies that sought to improve adaptive behavior functioning in cases where developmental regression had either already occurred or was...

Purpose: To investigate the extent to which medical students demonstrate politeness. With respect to patient–physician interactions, politeness appears to be a factor in therapeutic success, perhaps because it might induce greater patient compliance. Method: We assessed 354 third–semester medical students on one type of politeness, that is the perc...

The INTERSPEECH 2018 Computational Paralinguistics Challenge addresses four different problems for the first time ina research competition under well-defined conditions: In the Atypical Affect Sub-Challenge, four basic emotions annotatedin the speech of handicapped subjects have to be classified; in the Self-Assessed Affect Sub-Challenge, valence s...

Many children with autism spectrum disorder have minimal speech and are therefore candidates for learning to use speech-generating devices. Previous research has mainly focused on teaching children to use speech-generating devices to request preferred objects. While this is an important communication function, it would seem equally important for ch...

Background: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. Aims: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across...

This article provides an overview of studies assessing the early vocalisations of children with autism spectrum disorder (ASD), Rett syndrome (RTT), and fragile X syndrome (FXS) using retrospective video analysis (RVA) during the first 2 years of life. Electronic databases were systematically searched and a total of 23 studies were selected. These...

Background: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. Aims: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt...

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...

Among the most reliable markers for cerebral palsy are abnormal general movements. Two specific patterns of abnormal general movements predict cerebral palsy: (a) cramped-synchronised general movements at preterm and term age; they lack the usual smoothness and fluent character; limbs and trunk muscles contract almost simultaneously and thereafter...

Newborns are born into a social environment that dynamically responds to them. Newborn behaviors may not have explicit social intentions but will nonetheless affect the environment. Parents contingently respond to their child, enabling newborns to learn about the consequences of their behaviors and encouraging the behavior itself. Consequently, new...