Assessment of functioning in ADHD according to World Health Organization standards: First revision of the International Classification of Functioning, Disability and Health Core Sets.

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 inform revisions to the ADHD Core Sets. RESULTS: A total of 27 second-level ICF codes were added to the comprehensive ADHD Core Set: body functions of temperament and personality, and basic sensory functions; activities and participation in terms of learning to read and write, spoken communication, community life, religion and spirituality, education, economy, and human rights; environmental factors for domestic animals; and several societal services. The revised comprehensive Core Set contains 98 ICF codes: 18 body function codes; 47 activities and participation codes; and 33 environmental factor codes. Extensive changes were also made to the age-appropriate brief Core Sets to allow their independent use in research and clinical practice. INTERPRETATION: Although substantially expanded, the revised ICF Core Sets better reflect the lived experience of individuals with ADHD and clinical implementation preferences than the initial sets. We recommend further feasibility and validation studies of these Core Sets with the goal of optimizing their acceptance and practicability, and strengthening their evidence base.

The Gestalt of functioning in autism revisited: First revision of the International Classification of Functioning, Disability and Health Core Sets.

LAY ABSTRACT: Autistic people experience individual strengths and challenges as well as barriers and facilitators in their environment. All of these factors contribute to how well autistic people can cope in everyday life, fulfill the roles they choose, and meet their needs. The World Health Organization has developed a system aiming to capture the many factors within people (like how someone thinks and feels) and outside of people (things around a person) that influence their daily living, called the International Classification of Functioning, Disability and Health. The International Classification of Functioning, Disability and Health can be used for different purposes in research and practice to assess people's situations and plan support measures. Previously in 2019, the International Classification of Functioning, Disability and Health was adapted to autism by developing so-called Core Sets, which are shorter International Classification of Functioning, Disability and Health versions for use in specific conditions. Here, we present the first revisions of the International Classification of Functioning, Disability and Health Core Sets for autism, based on research, development results, and community feedback. Some factors influencing daily life for autistic people were added to the Core Sets, and other factors deemed less relevant were removed. Changes were also made in Core Sets designed for different age groups (0-5, 6-16, and ⩾17 years). Particularly, contents for sensory processing (like smell, touch, seeing, hearing) were added. We recommend these updated Core Sets for future use in autism research and practice. These changes to the Core Sets after 4 years indicate that there should be ongoing updates based on research and experience from practice and involvement of stakeholders.

Music therapy modulates mothers' perception of their preterm infants.

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. We surveyed 33 mothers of preterm infants born before 32 weeks of gestation, who were participating in an RCT on music therapy. We employed the neonatal perception inventory (NPI), an instrument designed to assess the mother's perception and expectations regarding her infant immediately after birth. Infants were randomly assigned to either standard care (control group) or standard care plus music therapy (intervention group). Eighteen mothers from the intervention group participated in the survey (mean age 34.1 ± 4.6 years) and 15 mothers from the control group (mean age 29.6 ± 4.2 years). At the time of the infant's hospital discharge, mothers rated their expectations of how they felt a baby should behave (NPI I) and how they perceived their own infant (NPI II). The NPI score difference was calculated by subtracting the NPI II from the NPI I. Mean NPI I scores were comparable between both groups, but NPI II scores in the intervention group were better [18.0, 95% confidence interval (CI) 16.6-19.4] than in the control group (19.1, 95% CI 18.0-20.3). The relative probability of mothers rating their own baby as better than average was 1.94 (95% CI 1.00-3.79) for mothers whose infants received music therapy. These findings suggest that music therapy in the neonatal intensive care unit can positively influence mothers' perception of their hospitalized preterm infant.

Infant movement classification through pressure distribution analysis.

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" (writhing movements). METHODS: Participants (N = 45) were sampled from a typically-developing infant cohort. Multi-modal sensor data, including pressure data from a pressure sensing mat with 1024 sensors, were prospectively recorded for each infant in seven succeeding laboratory sessions in biweekly intervals from 4 to 16 weeks of post-term age. 1776 pressure data snippets, each 5 s long, from the two targeted age periods were taken for movement classification. Each snippet was pre-annotated based on corresponding synchronised video data by human assessors as either fidgety present or absent. Multiple neural network architectures were tested to distinguish the fidgety present vs. fidgety absent classes, including support vector machines, feed-forward networks, convolutional neural networks, and long short-term memory networks. RESULTS: Here we show that the convolution neural network achieved the highest average classification accuracy (81.4%). By comparing the pros and cons of other methods aiming at automated general movement assessment to the pressure sensing approach, we infer that the proposed approach has a high potential for clinical applications. CONCLUSIONS: We conclude that the pressure sensing approach has great potential for efficient large-scale motion data acquisition and sharing. This will in return enable improvement of the approach that may prove scalable for daily clinical application for evaluating infant neuromotor functions.

The movement of a baby is used by health care professionals to determine whether they are developing as expected. The aim of this study was to investigate whether a pad containing sensors that measured pressure occurring as the babies moved could enable identification of different movements of the babies. The results we obtained were similar to those obtained from use of a computer to process videos of the moving babies or other methods using movement sensors. This method could be more readily used to check the movement development of babies than other methods that are currently used.

Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022.

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. Studies were summarized in terms of (a) participants, (b) dependent variables related to communication, (c) intervention characteristics, (d) outcomes, and (e) certainty of evidence. Across the 16 studies, intervention was provided to a total of 100 participants from 3 to 47 years of age. Half of the studies used systematic instruction to teach aided AAC. Other interventions and associated technologies included music therapy, eye tracking technology, and transcranial stimulation. Positive outcomes (e.g., using AAC devices to make requests and/or initiate social-communication interactions) were reported in 13 of the studies. These 16 new studies provide additional guidance on how to enhance the communicative functioning of people with Rett syndrome. Future research directions are highlighted.

Mobile Solutions for Clinical Surveillance and Evaluation in Infancy-General Movement Apps.

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, we look back on the development of apps for acquiring general movement videos, describe the application and research studies of available apps, and discuss future directions of mobile solutions and their usability in research and clinical practice. We emphasise the importance of understanding the background that has led to these developments while introducing new technologies, including the barriers and facilitators along the pathway. The GMApp and Baby Moves apps were the first ones developed to increase accessibility of the GMA, with two further apps, NeuroMotion and InMotion, designed since. The Baby Moves app has been applied most frequently. For the mobile future of GMA, we advocate collaboration to boost the field's progression and to reduce research waste. We propose future collaborative solutions, including standardisation of cross-site data collection, adaptation to local context and privacy laws, employment of user feedback, and sustainable IT structures enabling continuous software updating.

Learning about neurodiversity from parents - Auditory gestalt perception of prelinguistic vocalisations.

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 children with RTT and aimed to examine their gestalt perception of prelinguistic vocalisations. METHODS AND PROCEDURE: Parents (n = 76) of female children with RTT listened to vocalisation recordings from RTT and typically developing (TD) infants, including an inconspicuous vocalisation from a RTT girl. For each recording, parents indicated if the vocalisation was produced by a RTT or a TD child. RESULTS: Overall correct to incorrect identification rate was 2:1, which was comparable to that of the previous study. Intriguingly, parents of RTT children seemed to be sensitive to features characterising the vocalisations of RTT infants, which has especially influenced their perception of the inconspicuous vocalisation from a RTT girl. CONCLUSIONS AND IMPLICATIONS: These results invite further research on the potential characterising differences between vocalisations from TD infants and infants with divergent neurodevelopment.

Open video data sharing in developmental science and clinical practice.

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 protection rules, a critical question arises whether efforts at data de-identification reduce data utility? We addressed this question by showcasing an established and video-based diagnostic tool for detecting neurological deficits. We demonstrated for the first time that, for analyzing infant neuromotor functions, pseudonymization by face-blurring video recordings is a viable approach. The redaction did not affect classification accuracy for either human assessors or artificial intelligence methods, suggesting an adequate and easy-to-apply solution for sharing behavioral video data. Our work shall encourage more innovative solutions to share and merge stand-alone video datasets into large data pools to advance science and public health.

Reliability of the Motor Optimality Score-Revised: A study of infants at elevated likelihood for adverse neurological outcomes.

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), India (infants born in low-resource communities) and the USA (infants prenatally exposed to SARS-CoV-2). Intraclass correlation coefficients (ICC) and kappa (κw) were applied. ICC of MOS-R subcategories and total scores were presented for cohorts together and separately and for age-spans: 9-12, 13-16 and 17-25-weeks post-term age. RESULTS: 252 infants were included (born extremely preterm n = 97, born in low-resource communities n = 97, prenatally SARS-CoV-2 exposed n = 58). Reliability of the total MOS-R was almost perfect (ICC: 0.98-0.99) for all cohorts, together and separately. Similar result was found for age-spans (ICC: 0.98-0.99). Substantial to perfect reliability was shown for the MOS-R subcategories (κw: 0.67-1.00), with postural patterns showing the lowest value 0.67. CONCLUSION: The MOS-R can be used in high-risk populations with substantial to perfect reliability, both in regards of total/subcategory scores as well as in different age groups. However, the subcategory postural patterns as well as the clinical applicability of the MOS-R needs further study.

Sex and gender in neurodevelopmental conditions.

Health-related conditions often differ qualitatively or quantitatively between individuals of different birth-assigned sexes and gender identities, and/or with different gendered experiences, requiring tailored care. Studying the moderating and mediating effects of sex-related and gender-related factors on impairment, disability, wellbeing and health is of paramount importance especially for neurodivergent individuals, who are diagnosed with neurodevelopmental conditions with uneven sex/gender distributions. Researchers have become aware of the myriad influences that sex-related and gender-related variables have on the manifestations of neurodevelopmental conditions, and contemporary work has begun to investigate the mechanisms through which these effects are mediated. Here we describe topical concepts of sex and gender science, summarize current knowledge, and discuss research and clinical challenges related to autism, attention-deficit/hyperactivity disorder and other neurodevelopmental conditions. We consider sex and gender in the context of epidemiology, behavioural phenotypes, neurobiology, genetics, endocrinology and neighbouring disciplines. The available evidence supports the view that sex and gender are important contributors to the biological and behavioural variability in neurodevelopmental conditions. Methodological caveats such as frequent conflation of sex and gender constructs, inappropriate measurement of these constructs and under-representation of specific demographic groups (for example, female and gender minority individuals and people with intellectual disabilities) limit the translational potential of research so far. Future research and clinical implementation should integrate sex and gender into next-generation diagnostics, mechanistic investigations and support practices.

Building Blocks for Deep Phenotyping in Infancy: A Use Case Comparing Spontaneous Neuromotor Functions in Prader-Willi Syndrome and Cerebral Palsy.

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 Prader-Willi syndrome (PWS) and to compare them with two other matched groups. One group included infants with CP; the other included patients who were treated at the same clinic and turned out to have inconspicuous developmental outcomes (IOs). The detailed GMA, i.e., the motor optimality score-revised (MOS-R), was used to prospectively assess the infants' (N = 54) movements. We underwent cross-condition comparisons to characterise both within-group similarities and variations and between-group distinctions and overlaps in infants' neuromotor functions. Although infants in both the PWS and the CP groups scored similarly low on MOS-R, their motor patterns were different. Frog-leg and mantis-hand postures were frequently seen in the PWS group. However, a PWS-specific general movements pattern was not observed. We highlight that pursuing in-depth knowledge within and beyond the motor domain in different groups has the potential to better understand different conditions, improve accurate diagnosis and individualised therapy, and contribute to deep phenotyping for precision medicine.

Neuromotor repertoires in infants exposed to maternal COVID-19 during pregnancy: a cohort study.

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 control infants from the Graz University Database. INTERVENTIONS: General movement assessment (GMA) videos between 3 and 5 months post-term age were collected and clinical assessments/developmental milestones evaluated at 6-8 months of age. Cases were matched by gestational age, gender and post-term age to prepandemic neurotypical unexposed controls from the database. MAIN OUTCOME MEASURES: Motor Optimality Scores Revised (MOS-R) at 3-5 months. Presence of developmental delay (DD) at 6-8 months. RESULTS: 239 infants were enrolled; 124 cases (83 in the USA/41 in Brazil) and 115 controls. GMA was assessed in 115 cases and 115 controls; 25% were preterm. Median MOS-R in cases was 23 (IQR 21-24, range 9-28) vs 25 (IQR 24-26, range 20-28) in controls, p<0.001. Sixteen infants (14%) had MOS-R scores <20 vs zero controls, p<0.001. At 6-8 months, 13 of 109 case infants (12%) failed to attain developmental milestones; all 115 control infants had normal development. The timing of maternal infection in pregnancy (first, second or third trimester) or COVID-19 disease severity (NIH categories asymptomatic, mild/moderate or severe/critical) was not associated with suboptimal MOS-R or DD. Maternal fever in pregnancy was associated with DD (OR 3.7; 95% CI 1.12 to 12.60) but not suboptimal MOS-R (OR 0.25; 95% CI 0.04 to 0.96). CONCLUSIONS: Compared with prepandemic controls, infants exposed to antenatal COVID-19 more frequently had suboptimal neuromotor development.

Using machine learning to improve diagnostic assessment of ASD in the light of specific differential and co-occurring diagnoses.

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 disorders. METHOD: We used a well-characterized clinical sample of individuals (n = 1,251) that had received detailed outpatient evaluation for the presence of an ASD diagnosis (n = 481) and covered a range of additional overlapping diagnoses, including anxiety-related disorders (ANX, n = 122), ADHD (n = 439), and conduct disorder (CD, n = 194). We focused on ADOS module 3, covering the age range with particular high prevalence of such differential diagnoses. We used machine learning (ML) and trained random forest models on ADOS single item scores to predict a clinical best-estimate diagnosis of ASD in the context of these differential diagnoses (ASD vs. ANX, ASD vs. ADHD, ASD vs. CD), in the context of co-occurring ADHD, and an unspecific model using all available data. We employed nested cross-validation for an unbiased estimate of classification performance and made available a Webapp to showcase the results and feasibility for translation into clinical practice. RESULTS: We obtained very good overall sensitivity (0.89-0.94) and specificity (0.87-0.89). In particular for individuals with less severe symptoms, our models showed increases of up to 35% in sensitivity or specificity. Furthermore, we analyzed item importance profiles of the ANX, ADHD, and CD models in comparison with the unspecific model revealing distinct patterns of importance for specific ADOS items with respect to differential diagnoses. CONCLUSIONS: ML-based diagnostic classification may improve clinical decisions by utilizing the full range of information from detailed diagnostic observation instruments such as the ADOS. Importantly, this strategy might be of particular relevance for older children with less severe symptoms for whom the diagnostic decision is often particularly difficult.

Emerging Verbal Functions in Early Infancy: Lessons from Observational and Computational Approaches on Typical Development and Neurodevelopmental Disorders.

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, Prader-Willi syndrome, and West syndrome were searched. The objectives are to review observational and computational studies on the emergence of (pre-)babbling vocalisations and outline findings on acoustic characteristics of early verbal functions. Methods: A comprehensive review of the literature was performed including observational and computational studies focusing on spontaneous infant vocalisations at the pre-babbling age of TD children, individuals with genetic or neurodevelopmental disorders. Results: While there is substantial knowledge about early vocal development in TD infants, the pre-babbling phase in infants with neurodevelopmental and genetic syndromes is scarcely scrutinised. Related approaches, paradigms, and definitions vary substantially and insights into the onset and characteristics of early verbal functions in most above-mentioned disorders are missing. Most studies focused on acoustic low-level descriptors (e.g. fundamental frequency) which bore limited clinical relevance. This calls for computational approaches to analyse features of infant typical and atypical verbal development. Conclusions: Pre-babbling vocalisations as precursor for future speech-language functions may reveal valuable signs for identifying infants at risk for atypical development. Observational studies should be complemented by computational approaches to enable in-depth understanding of the developing speech-language functions. By disentangling features of typical and atypical early verbal development, computational approaches may support clinical screening and evaluation.

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 CBRUTTER, 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. CBRUTTER ≥ 0.15. We revealed overall lower CBRsUTTER 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.

Impact of COVID-19 pandemic on families living with autism: An online survey.

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 on children with ASD and their families. METHODS AND PROCEDURES: We conducted an online survey two months after the beginning of lock-down (18th of May to 5th of July 2020) in Germany and Austria. We investigated behavioral and emotional changes of children related to the lock-down alongside parental stress and intrafamilial burden OUTCOME AND RESULTS: Of the 216 participating families with an autistic child (mean age: 12.23 years), nearly 50% reported aggravation of autistic symptoms and heightened parental stress. Families reported discontinuation of therapy, more intrafamilial conflicts and increase of psychopharmacological medication of the child. CONCLUSIONS AND IMPLICATIONS: Our report on short-term detrimental effects of the pandemic calls for thorough investigation of long-term sequalae for children and families.

[Physiotherapy in German Neonatal Intensive Care Units - Indication and Clinical Application of the General Movements Assessments]. / Physiotherapie in Deutschen Perinatalzentren.

BACKGROUND: Standardized recommendations for inpatient and outpatient physiotherapy for preterm infants are lacking in Germany. The aim of this study was to investigate the prescription practice in German neonatal intensive care units. Are standardized assessments used to determine indications? How important is the General Movements Assessment in postnatal diagnostics? METHODS: We conducted an online survey in German neonatal intensive care units asking 21 questions on indication and prescription practices for inpatient and outpatient physiotherapy in preterm infants' care as well as on General Movements Assessment and its clinical application via Lime Survey. RESULTS: 81% of the participating sites "always" or "often" recommend indication-based inpatient physiotherapy for preterm infants and 53% "always"/"often" recommend outpatient therapy. Indications are mainly based on these symptoms (N=344) or diagnoses (N=273) (multiple answers): hypotonia (94%), abnormal and imbalanced muscle tone (92%), neurological abnormalities (97%) and brain damage (94%). Standardized testing is used by 41% of the participants. The General Movements Assessment is known to 87% of the neonatal intensive care units, 11% use it several times a week, 17% several times a month for indication of physiotherapy. CONCLUSION: Physiotherapy is frequently prescribed for preterm infants. The majority of indications are based on symptoms or clinical pictures rather than on standardized tests. The General Movements Assessment is a widely known method but not systematically applied at the moment.