Temporal and spatial localisation of general movement complexity and variation-Why Gestalt assessment requires experience.

AIM: General movements' assessment (GMA), based on Gestalt perception, identifies infants at risk of cerebral palsy. However, the requirement of ample experience to construct the assessor's inner criteria for abnormal movement hampers its widespread clinical use. This study aims to describe details of general movements (GMs) in various body parts and to investigate their association with GMA-Gestalt. METHODS: Participants were 24 typically developing infants and 22 very-high-risk infants. GMs were assessed during the writhing (0-8 weeks) and/or fidgety GM phase (2-5 months) by GMA-Gestalt and a semi-quantification of the duration of simple movements and complex movements in various body parts. RESULTS: During both GM phases, the quality of movement often varied within a single assessment, but the degree of complexity and variation of movements in trunk, arms and legs were interrelated (ρ = 0.32-0.84). Longer durations of complex movements in arms and legs (P < .042) were further associated with a better quality in GMA-Gestalt. Head movement was associated with movements in other body parts only in the writhing phase and not associated with GMA-Gestalt during both GM phases. CONCLUSION: Infants did not show consistently over time and across body parts simple or complex movements. Detailed description of movement characteristics may facilitate the development of computer-based GMA.

Prevailing head position to one side in early infancy-A population-based study.

AIM: To determine the prevalence of prevailing head position to one side (PHP) in young infants and to evaluate its associations with reaching performance, neurological condition and perinatal and socio-economic factors. METHODS: Observational study in 500 infants (273 boys) 2-6 months corrected age, representative of the Dutch population (median gestational age 39.7 weeks (27-42); birthweight 3438 g (1120-4950). Prevailing head position to one side and reaching performance were assessed with the Infant Motor Profile; neurological condition with the Standardized Infant NeuroDevelopmental Assessment. Socio-economic information and perinatal information were obtained by questionnaire and medical records. Associations were analysed with uni- and multivariable statistics. RESULTS: Prevailing head position to one side was observed in 100 infants (20%), and its prevalence decreased from 49% at 2 months to 0% at 6 months. Only in infants aged 4-5 months PHP was significantly associated with worse reaching and an at-risk neurological score. Prevailing head position to one side was weakly associated with prenatal substance exposure, post-natal admission to a paediatric ward and paternal native Dutch background. CONCLUSION: Prevailing head position to one side at 2-3 months is a frequently occurring sign with limited clinical significance. Yet, PHP at 4-5 months is associated with a worse functional and neurological condition. Therefore, PHP at 4-5 months could serve as a red flag indicating possible challenges in later development.

Effect of early intervention in infants at very high risk of cerebral palsy: a systematic review.

AIM: First, to systematically review the evidence on the effect of intervention applied during the first postnatal year in infants with or at very high risk of cerebral palsy (CP) on child and family outcome. Second, to assess whether type and dosing of intervention modify the effect of intervention. METHOD: Relevant literature was identified by searching the PubMed, Embase, and CINAHL databases. Selection criteria included infants younger than 12 months corrected age with or at very high risk of CP. Methodological quality including risk of bias was scrutinized. RESULTS: Thirteen papers met the inclusion criteria. Seven studies with moderate to high methodological quality were analysed in detail; they evaluated neurodevelopmental treatment only (n=2), multisensory stimulation (n=1), developmental stimulation (n=2), and multifaceted interventions consisting of a mix of developmental stimulation, support of parent-infant interaction, and neurodevelopmental treatment (n=2). The heterogeneity precluded conclusions. Yet, two suggestions emerged: (1) dosing may be critical for effectiveness; (2) multifaceted intervention may offer best opportunities for child and family. INTERPRETATION: The literature on early intervention in very high-risk infants with sufficient methodological quality is limited, heterogeneous, and provides weak evidence on the effect. More studies are urgently needed. Suggestions for future research are provided.

Development of the quality of reaching in infants with cerebral palsy: a kinematic study.

AIM: To assess development of reaching and head stability in infants at very high risk (VHR-infants) of cerebral palsy (CP) who did and did not develop CP. METHOD: This explorative longitudinal study assessed the kinematics of reaching and head sway in sitting in 37 VHR-infants (18 CP) one to four times between 4.7 months and 22.6 months corrected age. Developmental trajectories were calculated using linear mixed effect models. Motor function was evaluated with the Infant Motor Profile (IMP) around 13 months corrected age. RESULTS: Throughout infancy, VHR-infants with CP had a worse reaching quality than infants without CP, reflected for example by more movement units (factor 1.52, 95% CI 1.16-1.99) and smaller transport movement units (factor 1.86, 95% CI 1.20-2.90). Total head sway of infants with and without CP was similar, but infants with CP used more head movement units to achieve stability. The rate of developmental change in infants with and without CP was similar. Around 13 months, head control and reaching quality were interrelated; both were associated with IMP-scores. INTERPRETATION: Infants with CP showed a worse kinematic reaching quality and head stability throughout infancy from early age onwards than VHR-infants without CP, implying that kinematically they do not grow into a deficit, but exhibit deficits from early infancy on. WHAT THIS PAPER ADDS: Reaching quality improves throughout infancy in all infants at high risk (VHR-infants). Infants with cerebral palsy (CP) show a worse reaching quality than VHR-infants without CP. Infants with CP achieve head stability differently from infants without CP. Infants with CP exhibit kinematic reaching problems from early age onwards.

Knee jerk responses in infants at high risk for cerebral palsy: an observational EMG study.

BACKGROUND: Following our clinical observation of tonic responses in response to the knee jerk in infants at very high risk for cerebral palsy (VHR infants), we systematically studied tonic responses, clonus, and reflex irradiation. We questioned (i) whether these responses occurred more often in VHR infants than in typically developing (TD) infants, and (ii) whether they were associated with abnormal general movement quality. METHODS: Twenty-four VHR and 26 TD infants were assessed around 3 mo corrected age. Surface electromyograms of leg, trunk, neck, and arm muscles were recorded while eliciting the knee jerk. All assessments were video-recorded. RESULTS: VHR infants more often than TD infants showed tonic responses in the ipsilateral quadriceps and hamstring (Mann-Whitney U; P = 0.0005 and P = 0.0009), clonus (Chi-square; P = 0.0005) and phasic responses in the contralateral quadriceps and hamstring (Mann-Whitney U; P = 0.002 and P = 0.0003, respectively). Widespread reflex irradiation occurred in VHR and TD infants. Definitely abnormal general movements and stiff movements were associated with tonic responses (Mann-Whitney U; P = 0.0005, P = 0.007, respectively) and clonus (Mann-Whitney U; P = 0.003 and P = 0.0005) in the ipsilateral quadriceps. CONCLUSION: Similar to clonus, tonic responses may be regarded as a marker of a loss of supraspinal control. Reflex irradiation primarily is a neurodevelopmental phenomenon of early ontogeny.

Prognostic significance of neurological signs in high-risk infants - a systematic review.

The aim of this paper was to systematically review the literature on the significance of specific neurological signs in infancy, in particular in infants at risk for developmental problems such as cerebral palsy (CP). A literature search was performed using the databases PubMed, Embase, Web of Science, and AMED. Papers on infantile reactions ('primitive reflexes') and postural reactions were included if data were available allowing for calculation of sensitivity, specificity, or positive and negative predictive value for CP or atypical developmental outcome. Our search identified 23 articles on 20 different neurological signs. Properties of six neurological signs were reported in at least three different papers. The data indicated that, in early infancy, an absent Moro or plantar grasp response may be predictive for adverse developmental outcome. After early infancy, persistence of the Moro response and asymmetric tonic neck reflex was clinically significant. Prediction of a delayed emergence of the parachute reaction increases with age. Abnormal performances on the pull-to-sit manoeuvre and vertical suspension test have predictive significance throughout infancy. The neurological signs reviewed have some predictive value in infants at risk. For most of the signs, criteria for abnormality and significance are age-dependent.

Slow pupillary light responses in infants at high risk of cerebral palsy were associated with periventricular leukomalacia and neurological outcome.

AIM: Having observed slow pupillary light responses (PLRs) in infants at high risk of cerebral palsy, we retrospectively evaluated whether these were associated with specific brain lesions or unfavourable outcomes. METHODS: We carried out neurological examinations on 30 infants at very high risk of cerebral palsy five times until the corrected age of 21 months, classifying each PLR assessment as normal or slow. The predominant reaction during development was determined for each infant. Neonatal brain scans were classified based on the type of brain lesion. Developmental outcome was evaluated at 21 months of corrected age with a neurological examination, the Bayley Scales of Infant Development Second Edition and the Infant Motor Profile. RESULTS: Of the 30 infants, 16 developed cerebral palsy. Predominantly slow PLRs were observed in eight infants and were associated with periventricular leukomalacia (p = 0.007), cerebral palsy (p = 0.039), bilateral cerebral palsy (p = 0.001), poorer quality of motor behaviour (p < 0.0005) and poorer cognitive outcome (p = 0.045). CONCLUSION: This explorative study suggested that predominantly slow PLR in infants at high risk of cerebral palsy were associated with periventricular leukomalacia and poorer developmental outcome. Slow PLR might be an expression of white matter damage, resulting in dysfunction of the complex cortico-subcortical circuitries.

GMFM in infancy: age-specific limitations and adaptations.

PURPOSE: To evaluate longitudinal applicability of the gross motor function measure (GMFM) in infants younger than 2 years. METHODS: Twelve infants at very high risk for cerebral palsy were enrolled between 1 and 9 months corrected age. The children were assessed 4 times during 1 year with the GMFM-66, GMFM-88, and other neuromotor tests. RESULTS: Longitudinal use of the GMFM in infancy was hampered by age and function-specific limitations. The GMFM-66 differentiated less at lower-ability levels than at higher-ability levels. The GMFM-88 demonstrated flattening of the developmental curve when infants had developed more motor abilities. We formulated adaptations for the longitudinal use of GMFM in infancy. CONCLUSIONS: To facilitate use of the GMFM in infancy, an adapted version may be an option. Further research is required to assess reliability and validity, and in particular, the sensitivity to change of the suggested adaptations.

Atypical knee jerk responses in high-risk children: A longitudinal EMG-study.

INTRODUCTION: We previously found that atypical responses to the knee jerk reflex, i.e., tonic responses (TRs), clonus and contralateral responses in very high-risk (VHR) infants were associated with cerebral palsy (CP) at 21 months. The current study aimed for a better understanding of pathophysiology of atypical knee jerk responses by evaluating whether infant atypical knee jerk responses are associated with CP and atypical knee jerk responses at school-age. METHODS: 31 VHR-children, who had also been assessed longitudinally during infancy, and 24 typically developing children, were assessed at 7-10 years (school-age). We continuously recorded surface EMG of thigh muscles during knee jerk responses longitudinally during infancy and once at school-age. Neurological condition was assessed with age-appropriate neurological examinations. It included the diagnosis of CP at 21 months corrected age and school-age. CP's type and severity (Gross Motor Function Classification System (GMFCS)) were reported. RESULTS: Persistent TRs in infancy were associated with CP at school-age. TR prevalence decreased from infancy to childhood. At school-age it was no longer associated with CP. Clonus prevalence in VHR-children did not change with increasing age; it was significantly higher in children without than those with CP. Reflex irradiation was common in all school-age children, and its prevalence in contralateral muscles in VHR-children decreased between infancy and childhood. CONCLUSIONS: In infancy, TRs indicated an increased risk of CP, but at school-age TRs were not associated with CP. In general, spinal hyperexcitability, expressed as reflex irradiation and TRs, decreased between infancy and school-age.

Infant motor behaviour and functional and cognitive outcome at school-age: A follow-up study in very high-risk children.

BACKGROUND: The Infant Motor Profile (IMP) is an appropriate tool to assess and monitor infant motor behaviour over time. Infants at very high risk (VHR) due to a lesion of the brain generally show impaired motor development. They may grow into or out of their neurodevelopmental deficit. AIMS: Evaluate associations between IMP-trajectories, summarised by IMP-scores in early infancy and rates of change, and functional and cognitive outcome at school-age in VHR-children. STUDY DESIGN: Longitudinal study. SUBJECTS: 31 VHR-children, mainly due to a brain lesion, who had multiple IMP-assessments during infancy, were re-assessed at 7-10 years (school-age). OUTCOME MEASURES: Functional outcome was assessed with the Vineland-II, cognition with RAKIT 2. Associations between IMP-trajectories and outcome were tested by multivariable linear regression analyses. RESULTS: When corrected for sex, maternal education and follow-up age, initial scores of total IMP, variation and performance domains, as well as their rates of change were associated with better functional outcome (unstandardised coefficients [95% CI]): 36.44 [19.60-53.28], 33.46 [17.43-49.49], 16.52 [7.58-25.46], and 513.15 [262.51-763.79], 356.70 [148.24-565.15], and 269 [130.57-407.43], respectively. Positive rates of change in variation scores were associated with better cognition at school-age: 34.81 [16.58-53.03]. CONCLUSION: Our study indicated that in VHR-children IMP-trajectories were associated with functional outcome at school-age, and to a minor extent also with cognition. Initial IMP-scores presumably reflect the effect of an early brain lesion on brain functioning, whereas IMP rate of change reflects whether infants are able to grow into or out of their initial neurodevelopmental deficit.

Development of muscle tone impairments in high-risk infants: Associations with cerebral palsy and cystic periventricular leukomalacia.

AIM: To assess the prevalence and development of muscle tone impairments in infants at high risk of developmental disorders, and their associations with cerebral palsy (CP) and cystic periventricular leukomalacia (cPVL). METHOD: Longitudinal exploration of muscle tone in 39 infants at high risk of CP (LEARN2MOVE 0-2 project) mostly due to an early lesion of the brain. Muscle tone was assessed ≥4 times between 0 and 21 months corrected age (CA) with the Touwen Infant Neurological Examination. Diagnosis of CP was determined at 21 months CA. Neonatal neuro-imaging was available. Developmental trajectories were calculated using generalized linear mixed effect models. RESULTS: Infants showed atypical muscle tone in three or four body parts in 93% (172/185) of the assessments. The most prevalent muscle tone pattern was hypotonia of neck and trunk with hypertonia of the limbs (28%). From 7 months CA onwards hypertonia of the arms was associated with CP. Asymmetric arm tone during infancy was associated with unilateral CP. At 18-21 months CA ankle hypertonia was associated with CP at 21 months; leg hypertonia in infancy was not associated with CP. Leg hypertonia was associated with cPVL, regardless of age. INTERPRETATION: High-risk infants due to an early lesion of the brain often present with muscle tone impairment. In these infants, hypertonia and asymmetric muscle tone of the arms were from 7 months onwards associated with the diagnosis of CP at 21 months; hypertonia of the legs was not.

Assessment of specific characteristics of abnormal general movements: does it enhance the prediction of cerebral palsy?

AIM: Abnormal general movements at around 3 months corrected age indicate a high risk of cerebral palsy (CP). We aimed to determine whether specific movement characteristics can improve the predictive power of definitely abnormal general movements. METHOD: Video recordings of 46 infants with definitely abnormal general movements at 9 to 13 weeks corrected age (20 males; 26 females; median gestational age 30wks; median birthweight 1200g) were analysed for the following characteristics: presence of fidgety, cramped synchronized, stiff, or jerky movements and asymmetrical tonic neck reflex pattern. Neurological condition (presence or absence of CP), gross motor development (Alberta Infant Motor Scales), quality of motor behaviour (Infant Motor Profile), functional mobility (Pediatric Evaluation of Disability Inventory), and Mental Developmental Index (Bayley Scales) were assessed at 18 months corrected age. Infants were excluded from participating in the study if they had severe congenital anomalies or if their caregivers had an insufficient knowledge of the Dutch language. RESULTS: Of the 46 assessed infants, 10 developed spastic CP (Gross Motor Function Classification System levels I to V; eight bilateral spastic CP, two unilateral spastic CP). The absence of fidgety movements and the presence of predominantly stiff movements were associated with CP (Fisher's exact test, p=0.018 and p=0.007 respectively) and lower Infant Motor Profile scores (Mann-Whitney U test, p=0.015 and p=0.022 respectively); stiff and predominantly stiff movements were associated with lower Alberta Infant Motor Scales scores (Mann-Whitney U test, p=0.01 and p=0.004 respectively). Cramped synchronized movements and the asymmetrical tonic neck reflex pattern were not related to outcome. None of the movement characteristics were associated with Pediatric Evaluation of Disability Inventory scores or the Mental Developmental Index. INTERPRETATION: The assessment of fidgety movements and movement stiffness may improve the predictive power of definitely abnormal general movements for developmental outcome. However, the presence of fidgety movements does not preclude the development of CP.

Patterns of atypical muscle tone in the general infant population - Prevalence and associations with perinatal risk and neurodevelopmental status.

BACKGROUND: Muscle tone is an indispensable element in motor development. Its assessment forms an integral part of the infant neurological examination. Knowledge on the prevalence of atypical tone in infancy is lacking. AIM: To assess the prevalence of atypical muscle tone in infancy and of the most common atypical muscle tone patterns, and associations between atypical tone and perinatal risk and neurodevelopmental status. STUDY DESIGN: Cross-sectional study. SUBJECTS: 1100 infants (585 boys; gestational age 39.4 weeks (27.3-42.4)), 6 weeks-12 months corrected age, representative of the Dutch population. OUTCOME MEASURES: Muscle tone and neurodevelopmental status were assessed with the Standardized Infant NeuroDevelopmental Assessment (SINDA). Perinatal information was obtained by questionnaire and medical records. Univariable and multivariable statistics were applied. RESULTS: Ninety-two infants (8%) had atypical muscle tone in 3-4 body parts (impaired pattern), while atypical muscle tone in 1-2 body parts was observed in 50%. Isolated leg hypotonia and isolated arm hypertonia were most common. Isolated arm hypertonia and the impaired pattern were most clearly but only moderately associated with perinatal risk. These patterns were also most clearly associated with lower neurological scores. Only the impaired pattern was associated with lower developmental scores. CONCLUSION: Atypical muscle tone in one or two body parts is common in infancy and has in general little clinical significance. This finding corresponds to the well-known high prevalence of a typical but non-optimal neurological condition. Eight percent of infants show atypical muscle tone in 3-4 body parts. This clinically relevant pattern is associated with perinatal risk and less favourable neurodevelopmental status.

LEARN 2 MOVE 0-2 years: effects of a new intervention program in infants at very high risk for cerebral palsy; a randomized controlled trial.

BACKGROUND: It is widely accepted that infants at risk for cerebral palsy need paediatric physiotherapy. However, there is little evidence for the efficacy of physiotherapeutic intervention. Recently, a new intervention program, COPCA (Coping with and Caring for infants with special needs - a family centered program), was developed. COPCA has educational and motor goals. A previous study indicated that the COPCA-approach is associated with better developmental outcomes for infants at high risk for developmental disorders. LEARN 2 MOVE 0-2 years evaluates the efficacy and the working mechanisms of the COPCA program in infants at very high risk for cerebral palsy in comparison to the efficacy of traditional infant physiotherapy in a randomized controlled trial. The objective is to evaluate the effects of both intervention programs on motor, cognitive and daily functioning of the child and the family and to get insight in the working elements of early intervention methods. METHODS/DESIGN: Infants are included at the corrected age of 1 to 9 months and randomized into a group receiving COPCA and a group receiving traditional infant physiotherapy. Both interventions are given once a week during one year. Measurements are performed at baseline, during and after the intervention period and at the corrected age of 21 months. Primary outcome of the study is the Infant Motor Profile, a qualitative evaluation instrument of motor behaviour in infancy. Secondary measurements focus on activities and participation, body functions and structures, family functioning, quality of life and working mechanisms. To cope with the heterogeneity in physiotherapy, physiotherapeutic sessions are video-recorded three times (baseline, after 6 months and at the end of the intervention period). Physiotherapeutic actions will be quantified and related to outcome. DISCUSSION: LEARN 2 MOVE 0-2 years evaluates and explores the effects of COPCA and TIP. Whatever the outcome of the project, it will improve our understanding of early intervention in children with cerebral palsy. Such knowledge is a prerequisite for tailor-made guidance of children with CP and their families. TRIAL REGISTRATION: The trial is registered under NTR1428.

LEARN2MOVE 0-2 years, a randomized early intervention trial for infants at very high risk of cerebral palsy: family outcome and infant's functional outcome.

Purpose: To compare family and functional outcome in infants at very high risk of cerebral palsy, after receiving the family centred programme "Coping with and Caring for infants with special needs (COPCA)" or typical infant physiotherapy.Materials and methods: Forty-three infants at very high risk were included before 9 months corrected age and randomly assigned to one year COPCA (n = 23) or typical infant physiotherapy (n = 20). Family and infant outcome were assessed before and during the intervention. Physiotherapy intervention sessions were analysed quantitatively for process analysis. Outcome was evaluated with non-parametric tests and linear mixed-effect models.Results: Between-group comparisons revealed no differences in family and infant outcomes. Within-group analysis showed that family's quality of life improved over time in the COPCA-group. Family empowerment was positively associated with intervention elements, including "caregiver coaching."Conclusions: One year of COPCA or typical infant physiotherapy resulted in similar family and functional outcomes. Yet, specific intervention elements, e.g., coaching, may increase empowerment of families of very high risk infants and may influence quality of life, which emphasizes the importance of family centred services.Implications for rehabilitationOne year of the family centred programme "Coping with and a Caring for infants with special needs" compared with typical infant physiotherapy resulted in similar family outcome and similar functional outcome for the infants at very high risk for cerebral palsy.Specific contents of intervention, such as caregiver coaching, are associated with more family empowerment and increased quality of life.Emphasis on family needs is important in early intervention for infants at very high risk for cerebral palsy.

LEARN2MOVE 0-2 years, a randomized early intervention trial for infants at very high risk of cerebral palsy: neuromotor, cognitive, and behavioral outcome.

Purpose: Evidence for efficacy of early intervention in infants at high risk of cerebral palsy (CP) is limited. We compared outcome of infants at very high risk of CP after receiving the family centered program COPing with and CAring for infants with special needs (COPCA) or typical infant physiotherapy.Materials and methods: Forty-three infants were randomly assigned before the corrected age of 9 months to 1 year of COPCA (n = 23) or typical infant physiotherapy (n = 20). Neuromotor development, cognition, and behavior was assessed until 21 months corrected age. Video-recorded physiotherapy sessions were quantitatively analyzed for further process analyses. Outcome was evaluated with nonparametric tests and linear mixed effect models.Results: During and after the interventions, infant outcome in both intervention groups was similar [primary outcome Infant Motor Profile: COPCA 82 (69-94), typical infant physiotherapy 81 (69-89); Hodges Lehman estimate of the difference 0 (confidence interval -5;4)]. Outcome was not associated with contents of intervention.Conclusions: One year of COPCA and 1 year of typical infant physiotherapy in infants at high risk of CP resulted in similar neurodevelopmental outcomes. It is conceivable that combinations of active ingredients from different approaches are needed for effective early intervention.IMPLICATIONS FOR REHABILITATIONFor infants at very high risk of cerebral palsy, 1 year of intervention with the family-centred programme Coping with and Caring for infants with special needs resulted in similar infant outcome as 1 year of typical infant physiotherapy.Infant's neuromotor, cognitive, and behavioural outcome was not associated with specific interventional elements, implying that the various elements may have a similar effect on developmental outcome.We suggest that a specific mix of ingredients of different approaches may work best, resulting in comprehensive care including both infant and family needs.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

OBJECTIVE: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). METHODS: We analyzed clinical and genetic data from 241 patients with SPG7, integrating neurologic follow-up data. One case was examined neuropathologically. RESULTS: Patients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (p < 0.05), deep sensory loss (p < 0.01), muscle wasting (p < 0.01), ophthalmoplegia (p < 0.05), and sphincter dysfunction (p < 0.05) than those with a shorter duration (<10 years, n = 93). Progression, measured by Scale for the Assessment and Rating of Ataxia evaluations, showed a mean annual increase of 1.0 ± 1.4 points in a subgroup of 30 patients. Patients homozygous for loss of function (LOF) variants (n = 65) presented significantly more often with pyramidal signs (p < 0.05), diminished visual acuity due to optic atrophy (p < 0.0001), and deep sensory loss (p < 0.0001) than those with at least 1 missense variant (n = 176). Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, p < 0.05) and showed ataxia at onset (p < 0.05). Neuropathologic examination revealed reduction of the pyramidal tract in the medulla oblongata and moderate loss of Purkinje cells and substantia nigra neurons. CONCLUSIONS: This is the largest SPG7 cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant.

The tonic response to the infant knee jerk as an early sign of cerebral palsy.

BACKGROUND: Early identification of infants at risk of cerebral palsy (CP) is desirable in order to provide early intervention. We previously demonstrated differences in knee jerk responses between 3-month-old high risk and typically developing infants. AIMS: To improve early identification by investigating whether the presence of tonic responses (continuous muscle activity occurring after the typical phasic response), clonus or contralateral responses to the knee jerk during infancy is associated with CP. STUDY DESIGN: Longitudinal EMG-study. SUBJECTS: We included 34 high-risk infants (median gestational age 31.9 weeks) who participated in the LEARN2MOVE 0-2 years trial. OUTCOME MEASURES: Video-recorded knee jerk EMG-assessments were performed during infancy (1-4 times). Developmental outcome was assessed at 21 months corrected age (CA). Binomial generalized estimating equations models with repeated measurements were fitted using predictor variables. RESULTS: Infants who later were diagnosed with CP (n = 18) showed more often than infants who were not diagnosed with CP i) tonic responses - from 4 months CA onwards, ii) clonus - from 13 months CA onwards, and iii) contralateral responses - from 15 months CA onwards. LIMITATIONS: The main limitation is the relatively small sample size. CONCLUSIONS: The assessment of tonic responses to the knee jerk using EMG may be a valuable add-on tool to appraise a high risk of CP.

Are postural adjustments during reaching related to walking development in typically developing infants and infants at risk of cerebral palsy?

BACKGROUND: In typical development, postural adjustments during reaching change in the second half of infancy, including increasing rates of direction-specific adjustments. These changes are absent or different in infants at risk of cerebral palsy (CP). To discover whether these changes are related to acquisition of independent walking, we studied postural adjustments during reaching in infants before and after they learned to walk. METHODS: Ten typically developing (TD) infants and 11 infants at very high risk (VHR) of CP were assessed before and after they learned to walk. Reaching movements were elicited during supported sitting, while surface electromyography was recorded of arm, neck, and trunk muscles. Percentages of direction-specific adjustments (first level of control), and recruitment patterns and anticipatory activation (second level of control) were calculated. RESULTS: In both groups, postural adjustments during reaching were similar before and after acquisition of independent walking. Direction-specificity increased with age in typically developing infants but not in VHR-infants. CONCLUSION: Increasing age rather than the transition to independent walking is associated with increasing direction-specificity of TD-infants during reaching while sitting, while infants at very high risk of CP show no increase in direction-specificity, suggesting that they gradually grow into a postural deficit.