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

Frühe Auffälligkeiten in Motorik, Sprache und Kommunikation bei Rett-Syndrom

The dynamic course of Rett syndrome (RTT) is still said to begin with a period of apparently normal development although there is mounting evidence that individuals with RTT show behavioural peculiarities and abnormalities during their infancy. Their spontaneous general movements are abnormal from birth onwards. Normal cooing vocalisation and canonical babbling (if at all required) are interspersed with abnormalities such as proto-vowel and proto-consonant alternations produced on ingressive airstream, breathy voice characteristics, and pressed or high-pitched vocalisations. The gestural repertoire is limited. Certain developmental motor and speech-language milestones are not at all acquired or show a significant delay. Besides abnormal blinking, repetitive and/or long lasting tongue protrusion, and bizarre smiling, there are already the first body and/or hand stereotypies during the first year of life. We are currently on a promising way to define a specific set of behavioural biomarkers pinpointing RTT

White Matter Injury and General Movements in High-Risk Preterm Infants

BACKGROUND AND PURPOSE: Very preterm infants (birth weight, MATERIALS AND METHODS: In this prospective study of 47 preterm infants of 24-30 weeks' gestation, brain MR imaging was performed at term-equivalent age. Infants underwent T1- and T2-weighted imaging for volumetric analysis and DTI. General movements were assessed at 10-15 weeks' postterm age, and neurodevelopmental outcomes were evaluated at 2 years by using the Bayley Scales of Infant and Toddler Development Ill. RESULTS: Nine infants had aberrant general movements and were more likely to have adverse neurodevelopmental outcomes, compared with infants with normal movements. In infants with aberrant movements, Tract-Based Spatial Statistics analysis identified significantly lower fractional anisotropy in widespread white matter tracts, including the corpus callosum, inferior longitudinal and fronto-occipital fasciculi, internal capsule, and optic radiation. The subset of infants having both aberrant movements and abnormal neurodevelopmental outcomes in cognitive, language, and motor skills had significantly lower fractional anisotropy in specific brain regions. CONCLUSIONS: Aberrant general movements at 10-15 weeks' postterm are associated with adverse neurodevelopmental outcomes and specific white matter microstructure abnormalities for cognitive, language, and motor delays

Can the Prechtl method for the qualitative assessment of general movements be used to predict neurodevelopmental outcome, at eighteen months to three years, of infants born preterm?

Background: Preterm infants are more at risk of atypical neurodevelopment and diagnosis of impairment often occurs later in life. The Prechtl method for the qualitative assessment of general movements has been found to predict neurodevelopmental outcome in full term infants. Despite this, it is not clear whether the Prechtl assessment is predictive of neurodevelopmental outcome when used for preterm infants. Objectives: To review the literature regarding the use of the Prechtl method for the qualitative assessment of general movements in predicting neurodevelopmental outcome, at eighteen months to three years, of infants born preterm. Methods: A systematic search of MEDLINE, CINAHL, Science Citation Index, PsycINFO, Science Direct, Scopus, Social Sciences Index, Education Source, ERIC, SPORTDiscus, SciELO and SocINDEX was conducted in November 2015. The methodological quality of the included studies was critically appraised using a modified version of the Downs and Black quality index. Results: Five articles met the inclusion criteria. The Prechtl method of assessment was found to be predictive of both neuromotor and cognitive impairments at eighteen months to three years. The writhing period was found to have higher sensitivity but lower specificity and correlation to neurodevelopmental outcomes compared to the fidgety period. Combining both periods of assessment led to higher predictive power. The assessment was also found to be more predictive of severe impairment as opposed to minor impairment. Conclusions: The results of this systematic review suggest that Prechtl method of assessment can be used to predict neurodevelopmental outcome in preterm infants

Number word use in toddlerhood is associated with number recall performance at seven years of age

Previous studies have shown that verbal working memory and vocabulary acquisition are linked in early childhood. However, it is unclear whether acquisition of a narrow range of words during toddlerhood may be particularly related to recall of the same words later in life. Here we asked whether vocabulary acquisition of number words, location and quantifier terms over the first three years of life are associated with verbal and visuospatial working memory at seven years. Our results demonstrate that children who produced more number words between 20-26 months and started to produce the number words 1-10 earlier showed greater number recall at 7 years of age. This link was specific to numbers and neither extended to quantifier and location terms nor verbal and visuospatial working memory performance with other stimuli. These findings suggest a category-specific link between the mental lexicon of number words and working memory for numbers at an early age. © 2014 Libertus et al

Study protocol: an early intervention program to improve motor outcome in preterm infants: a randomized controlled trial and a qualitative study of physiotherapy performance and parental experiences

Background Knowledge about early physiotherapy to preterm infants is sparse, given the risk of delayed motor development and cerebral palsy. Methods/Design A pragmatic randomized controlled study has been designed to assess the effect of a preventative physiotherapy program carried out in the neonatal intensive care unit. Moreover, a qualitative study is carried out to assess the physiotherapy performance and parents' experiences with the intervention. The aim of the physiotherapy program is to improve motor development i.e. postural control and selective movements in these infants. 150 infants will be included and randomized to either intervention or standard follow-up. The infants in the intervention group will be given specific stimulation to facilitate movements based on the individual infant's development, behavior and needs. The physiotherapist teaches the parents how to do the intervention and the parents receive a booklet with photos and descriptions of the intervention. Intervention is carried out twice a day for three weeks (week 34, 35, 36 postmenstrual age). Standardized tests are carried out at baseline, term age and at three, six, 12 and 24 months corrected age. In addition eight triads (infant, parent and physiotherapist) are observed and videotaped in four clinical encounters each to assess the process of physiotherapy performance. The parents are also interviewed on their experiences with the intervention and how it influences on the parent-child relationship. Eight parents from the follow up group are interviewed about their experience. The interviews are performed according to the same schedule as the standardized measurements. Primary outcome is at two years corrected age. Discussion The paper presents the protocol for a randomized controlled trial designed to study the effect of physiotherapy to preterm infants at neonatal intensive care units. It also studies physiotherapy performance and the parent's experiences with the intervention

MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats

Since the identification of MECP2 as the causative gene in the majority of Rett Syndrome (RTT) cases, transgenic mouse models have played a critical role in our understanding of this disease. The use of additional mammalian RTT models offers the promise of further elucidating critical early mechanisms of disease as well as providing new avenues for translational studies. We have identified significant abnormalities in growth as well as motor and behavioural function in a novel zincfinger nuclease model of RTT utilizing both male and female rats throughout development. Male rats lacking MeCP2 (Mecp2ZFN/y) were noticeably symptomatic as early as postnatal day 21, with most dying by postnatal day 55, while females lacking one copy of Mecp2 (Mecp2ZFN/þ) displayed a more protracted disease course. Brain weights of Mecp2ZFN/y and Mecp2ZFN/þ rats were significantly reduced by postnatal day 14 and 21, respectively. Early motor and breathing abnormalities were apparent in Mecp2ZFN/y rats, whereas Mecp2ZFN/þ rats displayed functional irregularities later in development. The large size of this species will provide profound advantages in the identification of early disease mechanisms and the development of appropriately timed therapeutics. The current study establishes a foundational basis for the continued utilization of this rat model in future RTT research