Communication deficits in infants and toddlers with developmental disabilities

Research that focuses on detecting and assessing the presence of communication impairments in children with developmental disabilities exists. However, more research is needed which compares these deficits across individuals with various developmental disabilities. This information could inform the assessment process and treatment programs. Therefore, the purpose of the current study was to examine communication deficits in toddlers who were diagnosed with Down syndrome, Cerebral Palsy (CP), had a history of seizures or a seizure disorder, and who were born premature. A total of 140 toddlers 17-35 months of age met inclusion criteria for the study. Those diagnosed with CP evinced significantly fewer communication impairments on the Baby and Infant Screen for aUtIsm Traits-Part 1 (BISCUIT-Part 1) than children with Down syndrome and children with a history of seizures or seizure disorder. No significant differences were found on the communication subscale for the comparison of those with CP and those born prematurely. Children diagnosed with CP had fewer endorsements, indicating less impairment, on all six items of the Communication subscale of the BISCUIT-Part 1 when compared to the three other diagnostic groups. Implications of these results are discussed for children with differing handicaps.     

Growing old with epilepsy: the neglected issue of cognitive and brain health in aging and elder persons with chronic epilepsy

The purpose of this review is to examine what is known about cognitive and brain aging in elders with chronic epilepsy. We contend that much remains to be learned about the ultimate course of cognition and brain structure in persons with chronic epilepsy and concern appears warranted. Individuals with chronic epilepsy are exposed to many risk factors demonstrated to be associated with abnormal cognitive and brain aging in the general population, with many of these risk factors present in persons with chronic epilepsy as early as midlife. We suggest that a research agenda be developed to systematically identify and treat known modifiable risk factors in order to protect and promote cognitive and brain health in aging and elder persons with chronic epilepsy.     

Aging and Apolipoprotein E in HIV Infection

With the implementation of increasingly effective antiretroviral therapy (ART) over the past three decades, individuals infected with HIV live a much longer life. HIV infection is no longer a terminal but rather a chronic disease. However, the lifespan of infected individuals remains shorter than that of their uninfected peers. Even with ART, HIV infection may potentiate “premature” aging. Organ-associated disease and systemic syndromes that occur in treated HIV-infection are like that of older, uninfected individuals. Brain aging may manifest as structural changes or neurocognitive impairment that are beyond the chronological age. The spectrum of neurological, cognitive, and motor deficiencies, currently described as HIV-associated neurocognitive disorders (HAND), may reflect earlier onset of mechanisms common to HIV infection and aging (accelerated aging). HAND could also reflect the neurological impact of HIV infection superimposed on comorbidities linked to age and chronic inflammation, leading to a higher prevalence of neurocognitive impairment across the age span (accentuated aging). In addition, apolipoprotein E (ApoE), one of the most influential host risk factors for developing Alzheimer’s disease, has been implicated in the development of HAND. But studies differ as to whether ApoE is relevant, and whether age and ApoE interact to impair brain function in the HIV-infected patient. What is clear is that HIV-infected individuals are living longer with HIV, and therefore factors related to aging and health need to be examined in the context of current, effective ART. This review addresses the recent evidence for the influence of aging and ApoE on HIV-associated neurocognitive impairment.     

Interrater reliability study of cerebral palsy diagnosis, neurological subtype, and gross motor function

Aim To evaluate the interrater reliability of the inclusion in registries and classification of children with cerebral palsy (CP). Method Two studies were conducted. In study 1, 12 paediatricians from 11 countries viewed video sequences of 12 children with or without CP (nine males, three females; median age 6y; range 2-16). In study 2, 19 professionals from eight countries participated in an online exercise. They had to classify the same children but based on written vignettes. All participants had to evaluate whether the child had CP, the neurological subtype (Surveillance of Cerebral Palsy in Europe classification system), and gross motor function level (Gross Motor Function Classification System [GMFCS]). Kappa (κ) coefficients were calculated for categorical variables and intraclass correlation coefficients (ICCs) for ordinal data. Results Reliability was excellent in assessing whether or not a child had CP in study 1 (κ=1.00) and substantial in study 2 (κ=0.73); 95% confidence interval [CI] 0.58-0.87). For the neurological subtype, overall κ between paediatricians was 0.85 (95% CI 0.68-0.98), with full agreement observed for eight children. In study 2, overall κ was 0.78 (95% CI 0.61-0.91) with full agreement seen for five children. For the GMFCS, the ICC was 0.88 (95% CI 0.78-0.95) in study 1 and 0.80 (95% CI 0.64-0.91) in study 2. Interpretation Reliability was excellent for all characteristics classified by paediatricians viewing the videos and substantial for professionals reading vignettes.     

Treadmill training with partial body-weight support in children with cerebral palsy: a systematic review

Aim  The aim of this systematic review was to examine the literature on the effects of partial body-weight support treadmill training (PBWSTT) in children with cerebral palsy (CP) on functional outcomes and attainment of ambulation.
Method  We searched the relevant literature from 1950 to July 2007. We found eight studies on the use of PWSBTT on functional outcomes in children with CP. The methodology to develop systematic reviews of treatment interventions as suggested by the American Academy of Cerebral Palsy and Developmental Medicine and the Critical Review Form-Quantitative Studies Methodological Quality was used to evaluate each article.
Results  As two of the eight published articles reported on different outcomes of the same study, this review reports on seven studies with a total of 41 children. The evidence for the functional effects is limited. Statistical significance is not demonstrated in several of the studies, despite reported improvements in gross motor function, functional status, walking performance, and gait parameters.
Interpretation  This systematic review is limited by the small number of participants, the heterogeneous level of abilities of participants from Gross Motor Function Classification System levels I to IV, and the low quality of trials. Because of these limitations, we cannot conclude that PBWSTT results in improvements for children with CP. Additional studies and well-established randomized controlled (or clinical) trials are clearly needed before determining the benefits and efficacy that would support continued use of this intervention in the clinical setting.     

Is cerebral palsy associated with birth defects other than cerebral defects?

The objective of the study was to identify the origin (s) of the association between cerebral palsy (CP) and birth defects in the absence of cerebral birth defects. Data from the 1980 to 1994 Western Australian birth cohorts (355 659 neonatal survivors) were linked to the Cerebral Palsy Register (941 links) and the Birth Defects Registry (17070 links). Associations between CP (congenital or acquired) and birth defects (cerebral or exclusively non-cerebral) were estimated. The origin of the association between non-cerebral defects and acquired CP was investigated with an observational study, and the origin of the association between non-cerebral defects and congenital CP was investigated with a blinded case-control study of births with non-cerebral defects with or without CP. With non-cerebral defects, the odds ratio for CP was 4.8 (95% CI 3.1-7.4) if acquired and 4.7 (3.9-5.7) if congenital. For acquired CP, the association arose primarily as a result of cardiac defects. For congenital CP, the association arose partly from ascertainment bias and partly from defects known to be associated with cerebral defects (but not identified in these data). However, a significant portion remained unexplained. The presence of non-cerebral defects should heighten clinical alertness to the possibility of CP and of cerebral birth defects.     

Gross and fine motor function and accompanying impairments in cerebral palsy

The aim of this study was to describe and analyze gross and fine motor function and accompanying neurological impairments in children with cerebral palsy (CP) born between 1991 and 1998 in western Sweden. A population-based study comprised 411 children with a diagnosis of CP ascertained at 4 to 8 years of age. Gross Motor Function Classification System (GMFCS) levels were documented in 367 children (205 males, 162 females). Bimanual Fine Motor Function (BFMF) classification levels of 345 of the children and information on learning disability, epilepsy, visual and hearing impairments, and hydrocephalus from 353 children were obtained. For spastic CP, a new classification according to the Surveillance of Cerebral Palsy in Europe of uni- and bilateral spastic CP was applied. GMFCS was distributed at Level I in 32%, Level II in 29%, Level III in 8%, Level IV in 15%, and Level V in 16%. The corresponding percentages for BFMF were 30.7%, 31.6%, 12.2%, 11.9%, and 13.6% respectively. Learning disability was present in 40%, epilepsy in 33%, and severe visual impairment in 19% of the children. Motor function differed between CP types. More severe GMFCS levels correlated with larger proportions of accompanying impairments and, in children born at term, to the presence of adverse peri/neonatal events in the form of intracranial haemorrhage/stroke, cerebral infection, and hypoxic-ischaemic encephalopathy. GMFCS Level I correlated positively to increasing gestational age. We conclude that the classification of CP should be based on CP type and motor function, as the two combine to produce an indicator of total impairment load.     

Evidence-based approach of the use of Botulinum toxin type A (BTX) in cerebral palsy

A systematic review with the Sachett model of evidence-based medicine of the use of Botulinum toxin type A (BTX) for intervention in children with Cerebral Palsy (CP) is highlighted. Currently, the evidence showed that BTX is useful for treating pes equinus due to spasticity of the gastrocnemius-soleus muscles. However, careful patient selection and goals of treatment have to be addressed. More multi-centre clinical trials with standardized protocols are needed before widespread recommendation of the use of BTX in treating spasticity in CP can be made.     

Cerebral palsy following term newborn encephalopathy: a population-based study

Cerebral palsy (CP) can occur in term infants with or without preceding newborn encephalopathy. We compared the type and severity of CP and associated disability in these two groups. Participants from a population-based case-control study of term newborn encephalopathy were followed up for 6 years and linked to the Western Australian Cerebral Palsy Register. The remaining term infants with CP for the same period were also identified from the Cerebral Palsy Register. 13% of neonatal survivors of term newborn encephalopathy had CP, a rate of 116 per 1000 term live births. Overall, 24% of term infants with CP followed newborn encephalopathy. CP following newborn encephalopathy was more likely to: affect males (72% vs 56%); be severe (47% vs 25%); and be of spastic quadriplegia or dyskinetic types. Cognitive impairment was more common (75% vs 43%) and severe (41% vs 16%), as was epilepsy (53% vs 29%) in survivors of encephalopathy. These children were also more likely to: be non-verbal (47% vs 22%); have a severe composite disability score (47% vs 26%); and die between time of diagnosis of CP and age 6 years (5-year cumulative mortality 19% vs 5%). Children born at term who develop CP following newborn encephalopathy have a poorer prognosis than those with CP who were not encephalopathic in the first week of life.     

The potential metabolic consequences of cerebral palsy: inferences from the general population and persons with spinal cord injury

The metabolic consequences of cerebral palsy (CP) have not been reported. The observations and suggestions presented in this article are based on our current knowledge of physiology in the general population and on information on the known metabolic consequences of disability in persons with spinal cord injury. Because of pain, fatigue, and other secondary consequences of CP, adolescents with CP who are ambulatory may become less physically active with age. This phenomenon would be expected to be associated with deconditioning and adverse changes in body composition including atrophy of muscles and an absolute or relative increase in adiposity. Insulin resistance, hyperinsulinemia, and associated adverse metabolic changes may develop. In an unfavorable metabolic milieu, the ability of the pancreas to compensate for mild elevations of circulating glucose may diminish. The combination of reduced fitness and conventional risk factors for cardiovascular disease would be expected to increase the risk for coronary heart disease (CHD); however, there has been no assessment of the risk factors for CHD in adults with CP. Once subgroups with modifiable risk factors for cardiovascular disease have been identified, risk factors for CHD should be aggressively treated, according to current standards of care.     

A population-based study and systematic review of hearing loss in children with cerebral palsy

Aim The aims of this study were to estimate the frequency of hearing loss in children with cerebral palsy (CP), to examine factors associated with hearing loss, and to describe aspects of hearing in a population sample of children with CP and hearing loss. Method A systematic review of the international literature was undertaken, and data on the frequency of hearing loss or severe hearing loss were extracted from 14 data sets based on previously devised criteria. Six hundred and eight‐five children with CP (406 males, 279 females) born in Victoria, Australia, between 1999 and 2004 were identified from the Victorian Cerebral Palsy Register. Children were included if they had an established post neonatal cause for their CP before the age of 2 years. Additional information was collected on 48 children with documented hearing loss based on a four‐tone pure tone average in the better ear. Results There was considerable variation in the definitions and proportions of hearing loss (range 4–13%) and severe hearing loss (range 2–12%) reported by CP registries in developed countries. In Victoria, 7% of individuals with CP had bilateral hearing loss of a moderate to profound degree, whereas the subgroup with a severe–profound degree of loss constituted 3% to 4% of the CP population. Interpretation These population‐based data are likely to more accurately reflect the true frequency of defined hearing loss in children with CP than previous reviews.     

Conversion Disorder: Current problems and potential solutions for DSM-5

Conversion disorder in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) describes neurological symptoms, including weakness, numbness and events resembling epilepsy or syncope, which can be positively identified as not being due to recognised neurological disease. This review combines perspectives from psychiatry, psychology and neurology to identify and discuss key problems with the current diagnostic DSM-IV criteria for conversion disorder and to make the following proposals for DSM-5: (a) abandoning the label “conversion disorder” and replacing it with an alternative term that is both theoretically neutral and potentially more acceptable to patients and practitioners; (b) relegating the requirements for “association of psychological factors” and the “exclusion of feigning” to the accompanying text; (c) adding a criterion requiring clinical findings of internal inconsistency or incongruity with recognised neurological or medical disease and altering the current ‘disease exclusion’ criteria to one in which the symptom must not be ‘better explained’ by a disease if present, (d) adding a ‘cognitive symptoms’ subtype. We also discuss whether conversion symptoms are better classified with other somatic symptom disorders or with dissociative disorders and how we might address the potential heterogeneity of conversion symptoms in classification.     

Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: case report and subject review

Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome affecting approximately 1 in 4,000 persons. It is an autosomal-dominant disorder with half of the cases resulting from spontaneous mutations. This genetic defect leads to the formation of benign tumors or neurofibromas of the peripheral nervous system. Dermal neurofibromas may cause local discomfort and itching but are rarely associated with neurological deficit and do not undergo malignant change. The more extensive plexiform neurofibromas produce neurological complications in 27%-43% of patients with NF1 and may undergo malignant degeneration in 5% of cases. Patients with NF1 who develop pain or new neurological symptoms should have a rapid and thorough assessment for malignancy. In this report, we illustrate this point by presenting a patient who developed acute shoulder pain and weakness due to malignant degeneration of a plexiform neurofibroma involving the left brachial plexus, and review the literature on this subject.     

Raven's Coloured Progressive Matrices as a measure of cognitive functioning in Cerebral Palsy

Background Cognitive dysfunction is frequent in Cerebral Palsy (CP). CP motor impairment and associated speech deficits often hinder cognitive assessment, with the result being that not all CP studies consider cognitive dysfunction. Raven's Coloured Progressive Matrices is a simple, rapid test which can be used in persons with severe motor impairment and speech limitations. We studied whether this test can offer a reliable measure of cognitive functioning in CP. Method Visuoperceptual, language, memory and frontal lobe functions were evaluated in 30 participants with severe motor impaired CP and a variety of speech difficulties. The relationship between Raven's Coloured Progressive Matrices and a variety of tests was analysed. Results Raven's Coloured Progressive Matrices performance was associated with visuoperceptual, language, visual and verbal memory but not with frontal functions. Receptive vocabulary and visuospatial measures were the best predictors of Raven's Coloured Progressive Matrices raw scores. Conclusions Raven's Coloured Progressive Matrices is a fast, easy‐to‐administer test able to obtain a measure related with linguistic, visuoperceptual, and memory cognitive functioning in persons with CP despite their motor and speech disorders.     

Deficit in implicit motor sequence learning among children and adolescents with spastic Cerebral Palsy

Skill learning (SL) is learning as a result of repeated exposure and practice, which encompasses independent explicit (response to instructions) and implicit (response to hidden regularities) processes. Little is known about the effects of developmental disorders, such as Cerebral Palsy (CP), on the ability to acquire new skills. We compared performance of CP and typically developing (TD) children and adolescents in completing the serial reaction time (SRT) task, which is a motor sequence learning task, and examined the impact of various factors on this performance as indicative of the ability to acquire motor skills. While both groups improved in performance, participants with CP were significantly slower than TD controls and did not learn the implicit sequence. Our results indicate that SL in children and adolescents with CP is qualitatively and quantitatively different than that of their peers. Understanding the unique aspects of SL in children and adolescents with CP might help plan appropriate and efficient interventions.     

Humanized mice: models for evaluating NeuroHIV and cure strategies

While the human immunodeficiency virus (HIV) epidemic was initially characterized by a high prevalence of severe and widespread neurological pathologies, the development of better treatments to suppress viremia over years and even decades has mitigated many of the severe neurological pathologies previously observed. Despite effective treatment, mild neurocognitive impairment and premature cognitive aging are observed in HIV-infected individuals, suggesting a changing but ongoing role of HIV infection in the central nervous system (CNS). Although current therapies are effective in suppressing viremia, they are not curative and patients must remain on life-long treatment or risk recrudescence of virus. Important for the development and evaluation of a cure for HIV will be animal models that recapitulate critical aspects of infection in vivo. In the following, we seek to summarize some of the recent developments in humanized mouse models and their usefulness in modeling HIV infection of the CNS and HIV cure strategies.     

A simple test to monitor the motor dysfunction in a transgenic mouse model of amyotrophic lateral sclerosis.

We reported recently that transgenic mice overexpressing human neurofilament heavy (NF-H) proteins develop a progressive neurological disorder with pathological features resembling those found in amyotrophic lateral sclerosis (ALS) (Côté et al 1993). A simple behavioral test, the grasping ability, has been used here for evaluating the motor dysfunction during aging of NF-H transgenic mice. Transgenic mice overexpressing NF-H proteins are normal at birth but they progressively fail to uphold their weight when tested for their grasping ability. The deficits in motor function during aging correlate with a progressive disruption of peripheral nerve function as evidenced by the atrophy and degeneration of distal axons.     

Microglial phagocytosis in aging and Alzheimer's disease

Microglia are the innate immune cells of the brain, which maintain homeostasis by constantly scanning and surveying the environment with their highly ramified processes. In order to exert this function, they need to phagocytose synapses as well as debris and dead cells, a process that is further amplified in pathological conditions. Importantly, it has been shown that microglia phagocytic capacity is altered in the course of neurodegenerative disease, for which aging is one of the highest risk factors. Thus, understanding how phagocytosis is impaired during aging is a priority for future research. Advances in this area are expected to significantly contribute to our understanding of normal cognition during aging, as well as changes that take place in age-associated neurodegenerative diseases. In this review, we will summarize the current knowledge on how phagocytosis is executed and affected by aging or in age-associated neurological disorders, such as Alzheimer's disease (AD). Furthermore, we will summarize both protective and deleterious consequences of altered phagocytosis in AD and where relevant in other neurodegenerative diseases.     

The child with cerebral palsy: diagnosis and beyond

Cerebral palsy (CP) is one of the most common conditions we follow in our pediatric neurology offices. This review will hopefully convince you that the care of children with CP extends far beyond the diagnosis. The review addresses issues surrounding diagnosis, coimpairments, prognosis, and family-centeredness of care. It will also deal with routine office follow-up to prevent or identify complications, management of spasticity and other morbidities, alternative and complementary therapies, and finally transition.     

Control of angular momentum during walking in children with cerebral palsy

Children with hemiparetic Cerebral Palsy (CP) walk with marked asymmetries. For instance, we have recently shown that they have less arm swing on the affected side, and more arm swing at the unaffected side. Such an increase in arm swing at the unaffected side may be aimed at controlling total body angular momentum about the vertical axis, although it was never investigated in this respect. In the current study, we thus investigated if participants with hemiparetic CP control angular momentum by compensatory movements of the unaffected arm. We measured gait kinematics of 11 CP children, and 24 age matched typically developing (TD) children, walking at both self-selected and fast walking speeds, and calculated angular momenta. We found that children with hemiparetic CP did not have a reduced angular momentum of the affected arm. However, they showed substantial increases in angular momentum generated by the legs, which were compensated by increased angular momentum of the unaffected arm. As a result, there were no differences in total body angular momentum between TD and CP children. Moreover, walking speed had no effect on total body angular momentum in both groups. These findings support the idea that angular momentum during walking is a controlled variable, even in children with hemiplegic CP.