Katrin D. Bartl-Pokorny

Changing the perspective on early development of Rett syndrome.

Highlights ► Our study provides new insights into the pre-regressional development of RTT. ► The pre-regression period should not be considered asymptomatic. ► Peculiarities in speech-language development are potential red flags for RTT.

Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.

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 of females who are considered to have preserved some speech–language abilities.

Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome

We review literature identifying an association between motor abnormality in the first 5 months of infancy and later diagnosis of autism spectrum disorder (ASD) or Rett syndrome (RTT). The assessment of the quality of early spontaneous movements (also known as the assessment of general movements; GMs) is a diagnostic tool that has repeatedly proven to be valuable in detecting early markers for neurodevelopmental disorders. Even though the rate of occurrence of abnormal GMs is exceedingly high in infants later diagnosed with ASD, we endorse further studies using this method either based on family videos or its prospective implementation in high-risk sibling studies to evaluate the power of GM assessment as one potential marker for early maldevelopment in this cohort.

Profiling Early Socio-Communicative Development in Five Young Girls with the Preserved Speech Variant of Rett Syndrome.

Highlights ► Various body movements, facial expressions, eye movements, and vocalizations were used to communicate. ► Non-verbal communicative forms dominated over verbal-communicative forms for most communicative functions. ► Early peculiarities in the speech-language domain during the first year of life became more prominent and evident during the second year of life. ► Socio-communicative deficits are present before regression and persist after this period. ► Assessing socio-communicative forms and functions at early age in children with RTT might essentially contribute to early detection.

Are sporadic fidgety movements as clinically relevant as is their absence

BACKGROUND Infants with normal fidgety movements at 3 to 5 months after term are very likely to show neurologically normal development, while the absence of fidgety movements is an early marker for an adverse neurological outcome, mainly cerebral palsy (CP). The clinical significance of so-called sporadic fidgety movements (i.e., fidgety movements occur isolated in a few body parts and are of 1- to 3-second-duration) is not yet known. AIMS Our objective was to determine whether infants who had developed CP and had sporadic fidgety movements have a better outcome than infants who did not have fidgety movements. STUDY DESIGN Longitudinal study. Retrospective analysis of prospectively collected data. SUBJECTS 61 infants who developed CP (46 male, 15 female; 29 infants born preterm; videoed for the assessment of movements and postures at 9 to 16 weeks post-term age). OUTCOME MEASURES The Gross Motor Function Classification System (GMFCS) was applied at 3 to 5 years of age. RESULTS There was no difference between children diagnosed with CP who had sporadic fidgety movements at 9 to 16 weeks post-term age (n = 9) and those who never developed fidgety movements (n = 50) with regard to their functional mobility and activity limitation at 3 to 5 years of age. One infant had normal FMs and developed unilateral CP, GMFCS Level I; the remaining infant had abnormal FMs and developed bilateral CP, GMFCS Level II. CONCLUSIONS There is no evidence that the occurrence of occasional isolated fidgety bursts indicates a milder type of CP.

Peculiarities in the gestural repertoire: An early marker for Rett syndrome?

Highlights ► The emergence of first gestures in girls with RTT is not necessarily delayed. ► The repertoire of communicative gestures, however, is restricted. ► Although girls with RTT have difficulties in their verbal communicative domain, gestures do not constitute a compensatory mechanism. ► A limited repertoire of gestures and qualitative peculiarities in other speech-language domains might be characteristic for a severe neurodevelopmental disorder like RTT.

Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

Abstract Background and aims: This is the first study aiming to compare pre-diagnostic socio-communicative development of a female with typical Rett syndrome (RTT), a female with the preserved speech variant of RTT (PSV) and a control toddler. Methods: We analysed 1275 min of family videos at the participants’ age between 9 and 24 months and used the Inventory of Potential Communicative Acts (IPCA) to delineate their repertoires of communicative forms and functions. Results: The results revealed different profiles for the three different conditions. The repertoire of communicative gestures and (pre)linguistic vocalizations was most comprehensive in the control toddler, followed by the female with PSV and the female with RTT. Conclusion: These findings contribute to the growing knowledge about early developmental abnormalities in RTT. In order to define distinctive profiles for typical and atypical RTT and evaluate their specificity, a larger body of evidence is needed.

How can clinicians detect and treat autism early? Methodological trends of technology use in research

We reviewed original research papers that used quantifiable technology to detect early autism spectrum disorder (ASD) and identified 376 studies from 34 countries from 1965 to 2013. Publications have increased significantly since 2000, with most coming from the USA. Electroencephalogram, magnetic resonance imaging and eye tracking were the most frequently used technologies.

Early socio-communicative forms and functions in typical Rett syndrome

Rett syndrome (RTT) is a severe neurological disorder characterized by a developmental regression in motor and speech-language domains. There is, however, limited research on socio-communicative development of affected children before the onset of regression. We analyzed audio-video recordings made by parents of six 9- to 12-month old girls later diagnosed with typical RTT, applying the Inventory of Potential Communicative Acts (IPCA) to identify early communicative forms and functions. Each girl used at least one communicative form (e.g., body movement, eye gaze, or vocalizations) to gain attention and answer, but none were observed to make choices or request information. Varying numbers of children were observed to perform other communicative functions according to the IPCA including social convention, rejecting or requesting an object. Non-verbal forms (e.g., reaching, moving closer, eye contact, smiling) were more common than non-linguistic verbal forms (e.g., unspecified vocalizations, pleasure vocalizations, crying). (Pre-)linguistic verbal forms (e.g., canonical or variegated babbling, proto-words) were not used for communicative purposes. These data suggest that atypical developmental patterns in the socio-communicative domain are evident prior to regression in young individuals later diagnosed with RTT.

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.