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Linked Comment: E. Epstein. Br J Dermatol 2022; 186:203. Plain language summary available online [ABSTRACT FROM AUTHOR]

Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10–18 years), focusing on their mobility and gait characteristics. Two patients were not able to walk without assistance and showed a severe abnormal gait pattern, crouch gait. At examination, severe contractures were found. In addition to describing the different phenotypes with specific attention to gait in our cases, we reviewed known KIF1A mutations and summarized their associated phenotypes. We conclude that mobility and cognition are severely affected in children with spastic paraplegia due to de novo KIF1A mutations. Deterioration in mobility is most likely due to progressive spasticity, muscle weakness, and the secondary development of severe contractures, possibly combined with an additional progressive polyneuropathy. Close follow-up and treatment of these patients are warranted. [ABSTRACT FROM AUTHOR]

Abstract Background Maternal trauma complicates pregnancy in approximately 7%. Long-term development of children exposed to maternal trauma is unknown. Aim To determine neurobehavioural outcome of children (6–18 years) born after maternal trauma in pregnancy compared to a matched control group. Study design Case-control study performed at a tertiary medical centre. Subjects All consecutive children born after maternal hospitalization for trauma during pregnancy between 1995 and 2005. Controls were children born at the same hospital and period after an uneventful pregnancy. Outcome measures Trauma type and severity (Injury Severity Score, ≥9: severe); information from medical files at admission (cases). All mothers filled out two questionnaires about the infant; 1. concerning health, motor development and educational level, 2. concerning behavioural development through the validated Dutch version of the Child Behavior Checklist (CBCL). Results Questionnaires were returned by 34 cases and 28 controls. The traumas concerned mainly motor vehicle accidents and falls, and 3/34 had severe injuries. No differences in health, motor development, educational level and CBCL was found between the cases and controls, except for more hospitalization in the cases (p = 0.009). Conclusion Long-term follow-up of a limited population of children 6–18 years after exposure of mainly non-severe trauma before birth is similar to a control population except for unexplained more hospitalization in the cases. Highlights • This survey of children’s long-term outcome after trauma in pregnancy shows similar outcome in a trauma and control group. • There was more hospitalization in infancy and a trend of increased externalizing problems in infancy after trauma exposure. • Future prospective studies are recommended. [ABSTRACT FROM AUTHOR]

Background In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. Aim To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. Methods Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m–4y 3m). All eligible patients (n = 24, years 2009–2014) were included. Results Mean age at SDR was 12y 4m (SD 4y 3m, range 2y 8m–19y 3m). Associated orthopaedic problems were frequent. Seven patients underwent scoliosis correction in the same session. Most improvements were reported in dressing (n = 16), washing (n = 12) and comfort (n = 10). Median score for satisfaction was 7 on a scale of 10 (range 1–9). SDR resulted in reduction of spasticity in leg muscles. In nine patients dystonia was recorded post-operatively, mainly in children with congenital malformations and syndromes. Interpretation SDR is a single event intervention that can improve daily care and comfort in non-walking children with severe spasticity, and can safely be combined with scoliosis correction. Despite the improvements, satisfaction is variable. Careful attention is necessary for risk factors for dystonia, which may be unmasked after SDR. [ABSTRACT FROM AUTHOR]

Introduction Therapeutic hypothermia improves outcome after perinatal asphyxia. The Ages and Stages Questionnaire is a screening tool to detect neurodevelopmental delay. In this study we examined the outcome of patients with perinatal asphyxia (defined as Apgar score <5 at 10 min, or continued need for resuscitation, or pH < 7.00 in umbilical cord or within one hour after birth) with and without therapeutic hypothermia treatment at the age of four years. Methods Cohort study of patients with perinatal asphyxia admitted to the Neonatal Intensive Care Units of the VU University Medical Center, Amsterdam and the Wilhelmina Children's Hospital, Utrecht in the year 2008. Parents were asked to fill out the 48 months Ages and Stages Questionnaire (ASQ). In Wilhelmina Children's Hospital treatment with therapeutic hypothermia was implemented in 2008, in the VU University Medical Center in 2009, providing a historical cohort. Results/Discussion Twenty-three questionnaires were evaluated. Response rate of questionnaires for the VU Medical Center was 63% (n = 10) and Wilhelmina's Childrens Hospital 93% (n = 13). No significant differences were found in the mean scores between both groups. However, the untreated group scored more frequently under the −2 SD threshold. In the fine motor skills domain the difference was statistically significant (p = 0.031). In the treated group no patients developed cerebral palsy and in the untreated group two patients developed cerebral palsy. Conclusion In this study patients treated with hypothermia tend to have a better neurodevelopmental outcome. No significant differences were found between the two groups, apart from the fine motor skills. [ABSTRACT FROM AUTHOR]

Objective: The aim of this report is to describe the motor outcome in one year-old children who were born at full-term with perinatal hypoxic-ischemic encephalopathy (HIE). Relationships between motor ability tests and neurological examination at one year, and between these tests and neonatal brain magnetic resonance imaging (MRI) were investigated. Participants and Methods: 32 surviving children, born full-term with perinatal HIE, are included in this report. All children had a neonatal MRI. At one year, motor ability was assessed with the Alberta Infant Motor Scale and the Bayley Scales of Infant Development (2nd version). Neurological examinations included the neurological optimality score (NOS). Results: At one year, 14 children (44%) had normal motor ability, nine (28%) had mildly delayed, and nine had significantly delayed motor ability. The NOS ranged from 14.6-27 points. All children with normal motor ability had (near) optimal NOS, however, not all children with high NOS had normal motor ability. Eleven children (34%) had normal neonatal MRI; at one year, six of them had normal, and five had mildly delayed motor ability. Eight children with normal motor ability showed abnormalities on neonatal MRI. Conclusion: Neonatal brain MRI does not predict motor outcome at one year. Motor ability tests and neurological examinations should be used in a complementary manner to describe outcome after HIE. [ABSTRACT FROM AUTHOR]

The pharmacotherapy of Parkinson's disease mainly consists of treatment with levodopa and/or dopamine receptor agonists, which compensate for the loss of dopamine in the CNS that characterises the disease. Although treatment with levodopa is more effective than that with dopamine receptor agonists, the former frequently causes serious adverse effects, e.g. wearing-off phenomena and dyskinesias. Levodopa (after conversion to dopamine) stimulates dopamine D and D receptors, whereas the presently available dopamine agonists act mainly on D receptors. Therefore, the D receptor might be a potential target for pharmacotherapy in Parkinson's disease. However, in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-lesioned monkey model of Parkinson's disease, the partial D agonist SKF-38393 failed to stimulate motor behaviour. Newly developed agents that are full agonists at the D receptor do stimulate motor behaviour of MPTP-lesioned monkeys and act synergistically with D receptor agonists. Nonetheless, several of these compounds lose their efficacy in stimulating motor behaviour upon sustained administration and induce dyskinetic behaviour. Moreover, these compounds are likely to have the potential to induce epileptic seizures. Therefore, the potential value of the newly developed D receptor agonists in the treatment of Parkinson's disease seems limited. [ABSTRACT FROM AUTHOR]

Objective Limited knowledge is available about neurodevelopmental outcome after intrauterine mechanical trauma exposure, although 7–8% of pregnancies are complicated by trauma. Guidelines advise hospital admission after trauma in pregnancy, which enabled a prospective evaluation of perinatal and neurological outcome. Examination of fetal motility facilitates assessment of the integrity of the central nervous system. We hypothesize a transient influence on fetal motility after maternal trauma and normal neurological development at one year in case of minor trauma. Methods Pregnant women admitted for trauma after 20 weeks gestational age (GA) between 2011 and 2014 were eligible. Cause of trauma and severity of injuries were analyzed. Three one-hour ultrasonographic observations were performed within 8 hours (T1), 24–72 hours (T2) and > 72 hours (T3) after trauma. Assessment of motility concerned differentiation into specific movement patterns, quality and quantity of general movements (normal values: de Vries et al, Early Hum Dev 1982 and 1988). Neurological examinations were performed at term equivalent age according to Prechtl and at 1 year according to Touwen and Alberta Infant Motor Scale. Results Sixteen women participated at a median GA of 25+6 (range 20–38) weeks. Most traumas were traffic accidents or falls and injuries were mainly minor. Motility assessment showed abnormal differentiation in 2/16; 2/14 and 0/16; abnormal quality in 2/16; 3/14 and 6/16; and abnormal quantity in 6/16, 9/14 and 9/16 at T1, T2 and T3 respectively. Neurological development at 0 and 1 year was normal in 15/16 and 13/13 respectively. Conclusion This preliminary evaluation shows that fetal motility was affected after maternal trauma in majority of the fetuses, however, not transiently in all within four days. The neurological outcome at 0 and 1 year was normal. The changes in motility support the concern that even minor mechanical trauma may have influence on the functional integrity of the central nervous system. [ABSTRACT FROM AUTHOR]