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

Quantitative aspects of the early motor repertoire in preterm infants: Do they predict minor neurological dysfunction at school age?

Background: Qualitative aspects of the motor repertoire, at 11-16 weeks post-term are predictive for minor neurological dysfunction (MND) at 7 to 11 years of age. Predictive value of quantitative aspects is unknown so far. Aim: To investigate whether quantitative aspects of the motor repertoire between 6 and 24 weeks post-term also have predictive value for neurological outcome at 7 to 11 years of age. Study design: Prospective cohort study. Subjects: Preterm infants from whom several quantitative aspects of the motor repertoire were assessed between 6 and 24 weeks post-term. Outcome measures: Neurological outcome at 7-11 years of age was assessed according to Touwens' neurological examination. Children were classified as neurologically normal, or as having complex MND or cerebral palsy (CP). Results: Eighty-two children were included. At 7 to 11 years of age 15 children (18%) had developed CP, 49 (60%) were neurologically normal, and 18 (22%) had MND. Multiple logistic regression analysis showed that, when the qualitative aspects of the motor repertoire known to predict neurological outcome were taken into account, only the asymmetric tonic neck (ATN) posture provided additional predictive value. In case of normal fidgety movements (FMs) accompanied by an abnormal concurrent motor repertoire, the presence of an obligatory ATN increased the risk for developing complex MND to 75%; absence of an obligatory ATN reduced the risk to 15% (p Conclusions: Quantitative aspects of the motor repertoire at 11-16 weeks post-term, in particular the presence of an obligatory ATN posture, contribute to the prediction of neurological outcome at 7 to 11 years of age. (C) 2008 Elsevier Ireland Ltd. All rights reserved

Are abnormal fidgety movements an early marker for complex minor neurological dysfunction at puberty?

Background: Prechtl's method on the qualitative assessment of general. movements (GMs) is a powerful toot for early and specific prediction of cerebral palsy. However, it is uncertain whether the GM assessment can be used to predict mild neurological impairment. Aims: To determine whether the quality of general. movements (GMs) from the age of 3 to 5 months, i.e. fidgety movements, is related to the presence of complex minor neurological dysfunctions (MND) 13 to 15 years later. Study design: Prospectively collected data on the quality of GMs during infancy were retrospectively analysed on the basis of MND at puberty. Subjects: Twenty-eight participants (14 girls and 14 boys) with a median gestational age of 40 weeks (range: 35 to 42 weeks) and an appropriate birth weight (median 3390 g; range 1900 to 4200 g). Outcome measures: Touwen's neurological examination. Results and conclusions: Abnormal fidgety movements were not related to later complex MND, but to fine manipulative disabilities (p <0.05). Normal. fidgety movements, which are continually present in the whole body, might be required for optimal calibration of the proprioceptive system. (c) 2006 Elsevier Ireland Ltd. All rights reserved

The quality of the early motor repertoire in preterm infants predicts minor neurologic dysfunction at school age

Objective The quality of a child's motor repertoire at age 3 to 4 months postterm is predictive of later cerebral palsy (CP). Its predictive power for minor neurologic dysfunction (MND) is unclear. This study aimed to investigate the predictive value of the quality of the early motor repertoire for the development of MND at school age. Study design We assessed the motor repertoire from video recordings made at 6 to 24 weeks postterm in 82 preterm infants (mean gestational age, 29.7 +/- 1.9 weeks; mean birth weight, 1183 +/- 302 g). At age 7 to 11 years, Touwen's neurologic examination was performed, and the children were classified as normal (n = 49; 60%), MND (n = 18; 22%), or CP (n = 15; 18%). Results Multiple logistic regression analysis showed that the quality of fidgety movements (FMs) and the quality of the concurrent motor repertoire had independent prognostic value for MND at school age. Abnormal FMs evolved into MND in 64% of the children. Nine of die 28 children with normal FMs and an abnormal concurrent motor repertoire developed abnormally (32%). Only I child of the 21 children with normal FMs and a normal concurrent motor repertoire developed MND (5%). Conclusions Assessment of the quality of the early motor repertoire can accurately identify individual infants at high and low risk for MND at school age

The Quality of the Early Motor Repertoire in Preterm Infants Predicts Minor Neurologic Dysfunction at School Age

Objective: The quality of a child's motor repertoire at age 3 to 4 months postterm is predictive of later cerebral palsy (CP). Its predictive power for minor neurologic dysfunction (MND) is unclear. This study aimed to investigate the predictive value o