Coping, stress and negative psychological outcomes in parents of children admitted to a pediatric neurorehabilitation care unit.

BACKGROUND: Parents' attitudes and psychological adjustment during their child's hospitalization in a pediatric neurorehabilitation care unit are key aspects for the child's adherence to care and the impact of the disease. AIM: The aim of this study was to examine the relationship between parenting stress, coping style, and negative psychological outcomes in families of children admitted for the first time to a pediatric neurorehabilitation care unit. DESIGN: This is an observational study. SETTING: Pediatric neurorehabilitation care unit. POPULATION: One hundred twenty-four parents of children diagnosed with neurodevelopmental or neurological conditions. METHODS: Parents completed standardized questionnaires assessing parenting stress, coping style, anxiety and depressive symptoms. RESULTS: We found that parents of children with neurodevelopmental conditions showed more emotion-focused coping strategies (P=0.016) and depressive symptoms (P=0.01) compared with parents of children with neurological conditions. Hierarchical regression analyses showed that emotion- and avoidance-oriented coping style and socioeconomic status are crucial factors in the adjustment process of parents of children with neurodevelopmental conditions. By contrast, parenting stress and child difficulties were the most significant predictors of negative psychological outcomes in parents with neurological conditions. CONCLUSIONS: This study sought to develop more understanding of the relationship among parenting stress, coping, and anxiety or depressive symptoms in parent of children hospitalized in a pediatric neurorehabilitation care unit. We suggest that examining parents may increase our understanding of the interplay between child and parent functioning in families with children admitted for the first time to a pediatric neurorehabilitation care unit. CLINICAL REHABILITATION IMPACT: Identify these predictors might help professionals to develop screening procedures to identify parent at high risk for anxiety or depression, and to conduct early interventions to reduce uncertainty and maladaptive coping strategies that may influences rehabilitation process.

Functional classifications for cerebral palsy: correlations between the gross motor function classification system (GMFCS), the manual ability classification system (MACS) and the communication function classification system (CFCS).

This study aimed to investigate a possible correlation between the gross motor function classification system-expanded and revised (GMFCS-E&R), the manual abilities classification system (MACS) and the communication function classification system (CFCS) functional levels in children with cerebral palsy (CP) by CP subtype. It was also geared to verify whether there is a correlation between these classification systems and intellectual functioning (IF) and parental socio-economic status (SES). A total of 87 children (47 males and 40 females, age range 4-18 years, mean age 8.9±4.2) were included in the study. A strong correlation was found between the three classifications: Level V of the GMFCS-E&R corresponds to Level V of the MACS (rs=0.67, p=0.001); the same relationship was found for the CFCS and the MACS (rs=0.73, p<0.001) and for the GMFCS-E&R and the CFCS (rs=0.61, p=0.001). The correlations between the IQ and the global functional disability profile were strong or moderate (GMFCS and IQ: rs=0.66, p=0.001; MACS and IQ: rs=0.58, p=0.001; CFCS and MACS: rs=0.65, p=0.001). The Kruskal-Wallis test was used to determine if there were differences between the GMFCS-E&R, the CFCS and the MACS by CP type. CP types showed different scores for the IQ level (Chi-square=8.59, df=2, p=0.014), the GMFCS-E&R (Chi-square=36.46, df=2, p<0.001), the CFCS (Chi-square=12.87, df=2, p=0.002), and the MACS Level (Chi-square=13.96, df=2, p<0.001) but no significant differences emerged for the SES (Chi-square=1.19, df=2, p=0.554). This study shows how the three functional classifications (GMFCS-E&R, CFCS and MACS) complement each other to provide a better description of the functional profile of CP. The systematic evaluation of the IQ can provide useful information about a possible future outcome for every functional level. The SES does not appear to affect functional profiles.

Moebius syndrome and hydrosyringomyelia: description of a new association.

The diagnosis of Moebius syndrome, a rare congenital disorder, is primarily based on congenital facial and abducent nerve palsy. Involvement of other cranial nerves is also common. Occasionally the V, X, XI, and XII cranial nerves are involved, resulting in a difficulty to chew, swallow, and cough, which often leads to respiratory complications. Mental retardation and autism have been reported in some cases. Moebius syndrome can be associated with orofacial anomalies and limb malformations. The authors describe a patient with a confirmed diagnosis of Moebius syndrome associated with hydrosyringomyelia. No case of Moebius syndrome involving primarily the spinal cord has been reported so far. This patient did not present with other factors directly linked to syringomyelia.

Functioning and disability of children and adolescents in a vegetative state and a minimally conscious state: identification of ICF-CY-relevant categories.

Children in a vegetative state (VS) and a minimally conscious state (MCS) experience severe limitations as a consequence of nervous system deficits and require consistent environmental support. However, disability in VS and MCS children has never been described following a model that accounts for the presence of the symptoms, limitations and the support required. Therefore, the aim of this paper is to describe the functioning and disability of children in VS and MCS using the International Classification of Functioning, Disability and Health - version for Children and Youth (ICF-CY). VS and MCS children were enrolled in postacute settings and at home. ICF-CY questionnaires were filled in using information available from clinical documentation, direct observation and from children's parents. ICF-CY categories were considered as relevant if used in at least one-third of the children. In total, 36 children and adolescents (22 in VS, 25 males) were enrolled. The majority developed VS and MCS following a nontraumatic event; the mean age was 114.8 months and the mean duration of condition was 50.1 months. A total of 94 ICF-CY categories were reported as relevant: 26 were from body functions, mostly from mental functions and mobility chapters; nine from body structures, 32 from activities and participation, mostly from learning, mobility and self-care chapters; and 27 from environmental factors. The use of ICF-CY enables to obtain a specific profile of functioning for each child that can be coupled with known issues, such as loss of brain functions and provision of life-sustaining interventions.

Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. It is characterized by an unusual combination of cutaneous and neurologic signs and symptoms. The authors describe two brothers of consanguineous parents with SLS, one of whom was born from a dizygotic twin pregnancy (with an apparently normal sister), and they focus on the variability of the clinical findings of the syndrome even among siblings and twins.

The ICF-CY perspective on the neurorehabilitation of cerebral palsy: a single case study.

Starting from the case of a 12-year-old boy with dyskinetic (athetoid-dystonic subtype) cerebral palsy, the authors apply the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) of the World Health Organization (WHO) as a comprehensive documentation tool to guide the pathway of care and illustrate a multidisciplinary and interdisciplinary neurorehabilitation team approach. The ICF-CY provides a common and universal language for describing and measuring health and disability in the first 2 decades of life. Despite the fact that this is a single case design, the authors consider it useful for the identification of an ICF-CY core set for the description of children with cerebral palsy. The results of this single case study are preliminary and need to be tested in a large trial of children with cerebral palsy.

Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child.

Septo-optic dysplasia (SOD), also called De Morsier's syndrome, is a highly heterogeneous condition comprising a spectrum of central nervous system malformations that involves in various degrees the optic nerves, the hypothalamic-pituitary axis, and other midline structures such as the septum pellucidum and the corpus callosum. In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus). The authors present a 6-year-old boy with dyskinetic cerebral palsy (athetoid-dystonic subtype) associated with SOD-plus. Cranial magnetic resonance imaging (cMRI) revealed the total absence of septum pellucidum, optic nerve hypoplasia, hypoplasia of the corpus callosum and right occipital cortical dysplasia. The patient was diagnosed with septo-optic dysplasia-plus syndrome based on the cMRI findings. To the best of our knowledge, this is the first reported case in which defects of midline brain structures, like in SOD-plus, are associated with a significant hyperkinetic movement disorder such as dyskinesia.

Os odontoideum as a rare but possible complication in children with dyskinetic cerebral palsy: a clinical and neuroradiologic study.

The authors describe a 12-year-old boy with dyskinetic (athetoid-dystonic subtype) cerebral palsy and os odontoideum. Dystonic and choreoathetotic components in cerebral palsy are movement disorders that are difficult to treat and cause major disability. Dystonic posturing causes excessive flexion, extension, and rotation of the neck. Repetitive abnormal movements in patients with this type of cerebral palsy give rise to a higher incidence of pathologic conditions affecting the craniovertebral junction. Os odontoideum is one of these pathologies, and it represents a rare anomaly of the odontoid process. There are only a few reports describing os odontoideum in children with dyskinetic cerebral palsy. This clinical and neuroradiologic study focuses on the problem of atlantoaxial instability and os odontoideum in these forms of cerebral palsy, which is too often underestimated.

Congenital hypotonia in a child with a de novo 22q13 monosomy and 2pter duplication: a clinical and molecular genetic study.

The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ hybridization tests revealed de novo 22q13 monosomy and 2pter duplication. Numerous genetic and neurologic disorders of childhood are characterized by congenital hypotonia. This muscle tone disorder is often one of the symptoms that a neurologist is asked to evaluate. Recent advances in genetic testing can help provide a specific diagnosis for children with this symptom. Subtelomeric deletions are a category of disorders of which hypotonia can be a prominent feature. Deletions of chromosome 22q13 are some of the most commonly observed terminal deletions in humans, whereas duplications of chromosome 2p25.2 are very rare, and little is known about the phenotypic effect of these duplications. To the best of the authors' knowledge, this association has never been described before.

Long-term oral baclofen treatment in a child with cerebral palsy: electroencephalographic changes and clinical adverse effects.

Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and mental retardation who developed clinical adverse effects (confusion, agitated state, insomnia, diffuse hypotonia, and hyporeflexia) and electroencephalographic (EEG) changes (quasiperiodic, generalized burst of sharp waves that take up >50% of standard EEG) during long-term oral baclofen treatment, after gradually increasing the dosage but still within the therapeutic dose. Our case showed clearly that the EEG changes in our patient, with a history of epilepsy in good control, have been induced by the baclofen increase, and we describe the possible mechanisms that could explain proconvulsive effect of baclofen.

Movement disorders in a twins pair: a casual expression or genetic determination?

UNLABELLED: A twin study is an excellent means of assessing the contribution of heritability to motor behaviour. We present a movement video-analysis of a monozygotic twins pair with a motor repertoire which is almost totally constituted by persistent and subcontinuous motor stereotypies. PURPOSE: The specific aim of this study is to verify the heritable quantum of motor behaviour and to determine which among the motor patterns we analysed are more likely to be conditioned by inheritance. METHODS: Stereotyped movements were videotaped in two standardized sessions: at rest and in relation to preordained sensory stimulations. We estimated the concordance index (CI) between the observers to evaluate the reliability of the observations. The validity was accepted as being CI>0.80. RESULTS: The results showed a very high concordance rate (>90%) for all the stereotypies analysed. An almost superimposable trend of the stereotyped movements was found both at rest and in relation to the sensory stimulations. CONCLUSIONS: Such strong data suggest that genetic factors have a primary influence on all the movement disorders analysed. This study contributes to a better understanding of the complex relationships between genes and functions.

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.

Charcot-Marie-Tooth disease (CMTD) is a hereditary demyelinating peripheral neuropathy clinically presenting with sensory and motor defects, but rarely affecting cardiac function. Long QT syndrome (LQTS) is a congenital or acquired cardiovascular disorder characterized by ventricular depolarization defect. No studies reported CMTD in association with LQTS. We describe a child and his family who had both CMT1A and LQTS.