Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper.

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 syndromes. METHODS AND PROCEDURES: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies. In Part 2, RtN was assessed utilizing retrospective video analysis for infants later diagnosed with ASD, RTT, or FXS, and typically developing peers. OUTCOMES AND RESULTS: Given a variety of methodologies and instruments applied to assess RtN, 21/23 studies identified RtN as atypical in infants with a developmental disorder. We observed four different developmental trajectories of RtN in ASD, RTT, PSV, and FXS from 9 to 24 months of age. Between-group differences became more distinctive with age. CONCLUSIONS AND IMPLICATIONS: RtN may be a potential parameter of interest in a comprehensive early detection model characterising age-specific neurofunctional biomarkers associated with specific disorders, and contribute to early identification.

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders.

PURPOSE OF REVIEW: Substantial research exists focusing on the various aspects and domains of early human development. However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood. RECENT FINDINGS: This early developmental period may represent an important timeframe to study these disorders but has historically received far less research attention. We believe that only a comprehensive interdisciplinary approach will enable us to detect and delineate specific parameters for specific neurodevelopmental disorders at a very early age to improve early detection/diagnosis, enable prospective studies and eventually facilitate randomised trials of early intervention. In this article, we propose a dynamic framework for characterising neurofunctional biomarkers associated with specific disorders in the development of infants and children. We have named this automated detection 'Fingerprint Model', suggesting one possible approach to accurately and early identify neurodevelopmental disorders.

Eye Movements during Silent and Oral Reading in a Regular Orthography: Basic Characteristics and Correlations with Childhood Cognitive Abilities and Adolescent Reading Skills.

The present study aimed to define differences between silent and oral reading with respect to spatial and temporal eye movement parameters. Eye movements of 22 German-speaking adolescents (14 females; mean age = 13;6 years;months) were recorded while reading an age-appropriate text silently and orally. Preschool cognitive abilities were assessed at the participants' age of 5;7 (years;months) using the Kaufman Assessment Battery for Children. The participants' reading speed and reading comprehension at the age of 13;6 (years;months) were determined using a standardized inventory to evaluate silent reading skills in German readers (Lesegeschwindigkeits- und -verständnistest für Klassen 6-12). The results show that (i) reading mode significantly influenced both spatial and temporal characteristics of eye movement patterns; (ii) articulation decreased the consistency of intraindividual reading performances with regard to a significant number of eye movement parameters; (iii) reading skills predicted the majority of eye movement parameters during silent reading, but influenced only a restricted number of eye movement parameters when reading orally; (iv) differences with respect to a subset of eye movement parameters increased with reading skills; (v) an overall preschool cognitive performance score predicted reading skills at the age of 13;6 (years;months), but not eye movement patterns during either silent or oral reading. However, we found a few significant correlations between preschool performances on subscales of sequential and simultaneous processing and eye movement parameters for both reading modes. Overall, the findings suggest that eye movement patterns depend on the reading mode. Preschool cognitive abilities were more closely related to eye movement patterns of oral than silent reading, while reading skills predicted eye movement patterns during silent reading, but less so during oral reading.

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

BACKGROUND: Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder. METHOD: We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were additionally asked about when they noticed the emergence of behavioural signs related to FXS. RESULTS: More than half of the parents reported initial concerns prior to the child's first birthday and in most cases it was deviant motor behaviours that caused the first concerns. Behavioural signs related to the FXS phenotype were also reported to be perceptible in the first year of the child's life. CONCLUSIONS: Due to limitations of retrospective parental questionnaires, we suggest that other methodologies, such as home video analysis, are needed to complement our understanding of the pathways of developmental disorders with late clinical onsets.

Very low birth weight infants in China: the predictive value of the motor repertoire at 3 to 5months for the motor performance at 12months.

BACKGROUND: Studies on motor performance and its early markers are rare in China, especially in very low birth weight (VLBW) infants. OBJECTIVE: Apart from the assessment of the inter-scorer agreement, we aimed to analyze to what extent the motor repertoire at 10 to 18weeks postterm was related to neonatal complications, and gross and fine motor performance at 12months after term. STUDY DESIGN: Exploratory prospective study. SUBJECTS: Seventy-four VLBW infants (58 males; mean gestational age=29weeks; mean birth weight=1252g). METHOD: Five-minute video recordings were performed at 10 to 18weeks after term; fidgety movements and the concurrent motor patterns (resulting in a motor optimality score) were assessed according to the Prechtl general movements assessment (GMA). The gross and fine motor performance was assessed by means of the Peabody Developmental Motor Scales, second edition, at 12months. RESULTS: Reliability was excellent. Pneumonia was associated with absent fidgety movements; the motor optimality score was lower in infants with pneumonia and/or bronchopulmonary dysplasia. Both absent fidgety movements and a lower motor optimality score were associated with a poor or very poor gross and fine motor performance at the 12-month-assessment. CONCLUSION: Both the assessment of fidgety movements and the evaluation of the concurrent motor repertoire contribute significantly to an identification of VLBW children with a poor gross and fine motor outcome at 12months. The results of this study document the need for an early identification of infants at high risk for a poor motor performance.

The Relation between Reading Skills and Eye Movement Patterns in Adolescent Readers: Evidence from a Regular Orthography.

Over the past decades, the relation between reading skills and eye movement behavior has been well documented in English-speaking cohorts. As English and German differ substantially with regard to orthographic complexity (i.e. grapheme-phoneme correspondence), we aimed to delineate specific characteristics of how reading speed and reading comprehension interact with eye movements in typically developing German-speaking (Austrian) adolescents. Eye movements of 22 participants (14 females; mean age = 13;6 years;months) were tracked while they were performing three tasks, namely silently reading words, texts, and pseudowords. Their reading skills were determined by means of a standardized German reading speed and reading comprehension assessment (Lesegeschwindigkeits- und -verständnistest für Klassen 6-12). We found that (a) reading skills were associated with various eye movement parameters in each of the three reading tasks; (b) better reading skills were associated with an increased efficiency of eye movements, but were primarily linked to spatial reading parameters, such as the number of fixations per word, the total number of saccades and saccadic amplitudes; (c) reading speed was a more reliable predictor for eye movement parameters than reading comprehension; (d) eye movements were highly correlated across reading tasks, which indicates consistent reading performances. Contrary to findings in English-speaking cohorts, the reading skills neither consistently correlated with temporal eye movement parameters nor with the number or percentage of regressions made while performing any of the three reading tasks. These results indicate that, although reading skills are associated with eye movement patterns irrespective of language, the temporal and spatial characteristics of this association may vary with orthographic consistency.

The general movement optimality score: a detailed assessment of general movements during preterm and term age.

AIM: To explore the appropriateness of applying a detailed assessment of general movements and characterize the relationship between global and detailed assessment. METHOD: The analysis was based on 783 video recordings of 233 infants (154 males, 79 females) who had been videoed from 27 to 45 weeks postmenstrual age. Apart from assessing the global general movement categories (normal, poor repertoire, cramped-synchronized, or chaotic general movements), we scored the amplitude, speed, spatial range, proximal and distal rotations, onset and offset, tremulous and cramped components of the upper and lower extremities. Applying the optimality concept, the maximum general movement optimality score of 42 indicates the optimal performance. RESULTS: General movement optimality scores (GMOS) differentiated between normal general movements (median 39 [25-75th centile 37-41]), poor repertoire general movements (median 25 [22-29]), and cramped-synchronized general movements (median 12 [10-14]; p<0.01). The optimality score for chaotic general movements (mainly occurring at late preterm age) was similar to those for cramped-synchronized general movements (median 14 [12-17]). Short-lasting tremulous movements occurred from very preterm age (<32wks) to post-term age across all general movement categories, including normal general movements. The detailed score at post-term age was slightly lower compared to the scores at preterm and term age for both normal (p=0.02) and poor repertoire general movements (p<0.01). INTERPRETATION: Further research might demonstrate that the GMOS provides a solid base for the prediction of improvement versus deterioration within an individual general movement trajectory.

What do home videos tell us about early motor and socio-communicative behaviours in children with autistic features during the second year of life--An exploratory study.

BACKGROUND: Little is known about the first half year of life of individuals later diagnosed with autism spectrum disorders (ASD). There is even a complete lack of observations on the first 6 months of life of individuals with transient autistic behaviours who improved in their socio-communicative functions in the pre-school age. AIM: To compare early development of individuals with transient autistic behaviours and those later diagnosed with ASD. STUDY DESIGN: Exploratory study; retrospective home video analysis. SUBJECTS: 18 males, videoed between birth and the age of 6 months (ten individuals later diagnosed with ASD; eight individuals who lost their autistic behaviours after the age of 3 and achieved age-adequate communicative abilities, albeit often accompanied by tics and attention deficit). METHOD: The detailed video analysis focused on general movements (GMs), the concurrent motor repertoire, eye contact, responsive smiling, and pre-speech vocalisations. RESULTS: Abnormal GMs were observed more frequently in infants later diagnosed with ASD, whereas all but one infant with transient autistic behaviours had normal GMs (p<0.05). Eye contact and responsive smiling were inconspicuous for all individuals. Cooing was not observable in six individuals across both groups. CONCLUSIONS: GMs might be one of the markers which could assist the earlier identification of ASD. We recommend implementing the GM assessment in prospective studies on ASD.