IIAM (important information about me): a patient portability profile app for adults, children and families with neurodevelopmental disabilities.

PURPOSE: To describe the development of important information about me (IIAM), an application (app) used to communicate and organize healthcare information for people with neurodevelopmental disabilities (NDD). METHODS: Prior to the development of IIAM version 1.0, households with NDD were selected to participate in a focus group. Respondents (n = 7) were parents of children with NDD. Participants were asked to use a beta version for at least 2 months in day-to-day applications and to complete a questionnaire at the end of the trial. RESULTS: Over half (57%) of the participants found the beta version to be useful. The greatest limitation in usability was the child's age and literacy level. All participants found the app to be visually appealing and easy to navigate. IIAM was commonly used to communicate information to caregivers, and to facilitate quality interactions between the child and others. CONCLUSION: Mobile technology has become ubiquitous and has emerged as an important tool in healthcare. New applications could potentially promote accessible, cost-effective and self-managed interventions for the disability community. IIAM is a user-friendly, well-accepted and useful app for people with NDD. The focus group feedback elicited from the beta testing was used to develop the IIAM app version 1.0. However, the sample size in this initial feasibility study is small, and warrants a prospective study that evaluates the overall benefits of this app in improving quality of life and helping individuals with developmental disabilities manage their day-to-day activities. Implications for Rehabilitation Mobile technology has been more ubiquitous in health care and has emerged as a tool in communicating healthcare needs. New applications could potentially promote accessible, cost-effective and self-managed interventions for the disability community. IIAM (important information about me) is a new iOS application that enables adults and children with neurodevelopmental disabilities to organize their medical records, advocate for their healthcare needs, and help overcome communication and time limitations with health professionals and caregivers.

Diffusion tensor imaging in children with periventricular leukomalacia: variability of injuries to white matter tracts.

BACKGROUND AND PURPOSE: Conventional MR imaging shows evidence of brain injury and/or maldevelopment in 70%-90% of children with cerebral palsy (CP), though its capability to identify specific white matter tract injury is limited. The great variability of white matter lesions in CP already demonstrated by postmortem studies is thought to be one of the reasons why response to treatment is so variable. Our hypothesis is that diffusion tensor imaging (DTI) is a suitable technique to provide in vivo characterization of specific white matter tract lesions in children with CP associated with periventricular leukomalacia (PVL). MATERIALS AND METHODS: In this study, 24 children with CP associated with PVL and 35 healthy controls were evaluated with DTI. Criteria for identification of 26 white matter tracts on the basis of 2D DTI color-coded maps were established, and a qualitative scoring system, based on visual inspection of the tracts in comparison with age-matched controls, was used to grade the severity of abnormalities. An ordinal grading system (0=normal, 1=abnormal, 2=severely abnormal or absent) was used to score each white matter tract. RESULTS: There was marked variability in white matter injury pattern in patients with PVL, with the most frequent injury to the retrolenticular part of the internal capsule, posterior thalamic radiation, superior corona radiata, and commissural fibers. CONCLUSION: DTI is a suitable technique for in vivo assessment of specific white matter lesions in patients with PVL and, thus, a potentially valuable diagnostic tool. The tract-specific evaluation revealed a family of tracts that are highly susceptible in PVL, important information that can potentially be used to tailor treatment options in the future.

Correlation of corpus callosal morphometry with cognitive and motor function in periventricular leukomalacia.

PURPOSE: We aim to correlate size and shape of corpus callosum with severity of motor and cognitive impairments in children with periventricular leukomalacia (PVL). METHODS: Children with PVL were stratified based on the severity of their motor and cognitive impairments. An age-matched control group was established. The corpus callosum was identified on mid-sagittal T (1)-weighted spin-echo (TR/TE: 550/15) MR images. The shape characteristics of the corpus callosum were measured with respect to a template via a shape transformation. The degree of callosal-shape transformation was quantified by a deformation function, which in turn was compared, using point-wise T-tests, for controls versus patients, diplegic versus quadriplegic patients, and patients with mild versus severe cognitive impairment. RESULTS: 29 children with spastic cerebral palsy and PVL and 32 age-matched controls were identified. In the PVL group, the entire corpus callosum was significantly smaller than in the control group (p value = 0.001). Significant differences existed in the shape of the corpus callosum between patients with diplegic versus quadriplegic and between patients with severe versus mild cognitive impairment. CONCLUSION: Global and regional corpus callosal morphology can be quantified using deformation functions.

Diffusion tensor imaging of periventricular leukomalacia shows affected sensory cortex white matter pathways.

The authors used diffusion-tensor imaging to examine central white matter pathways in two children with spastic quadriplegic cerebral palsy. Corticospinal tracts projecting from cortex to brainstem resembled controls. In contrast, posterior regions of the corpus callosum, internal capsule, and corona radiata were markedly reduced, primarily in white matter fibers connected to sensory cortex. These findings suggest that the motor impairment in periventricular leukomalacia may, in part, reflect disruption of sensory connections outside classic pyramidal motor pathways.

Age-dependent effects of trihexyphenidyl in extrapyramidal cerebral palsy.

Trihexyphenidyl (Artane) is a centrally active muscarinic antagonist commonly used to treat patients with generalized dystonia. In a retrospective survey of 22 consecutive children with extrapyramidal cerebral palsy, we evaluated trihexyphenidyl on upper extremity and lower extremity function, expressive language, and drooling. Functional changes were assessed using a parental questionnaire (rating scale 1-5: from 1 = little or no change to 5 = tremendous change, with scores in either a positive or negative direction). Improvements of +4 or +5 were reported in eight children for upper extremity function, in eight children for verbal expressive language, in five for drooling, and in none for lower extremity function. Using bivariate linear regression modeling to investigate variables associated with treatment effects, there was a significant inverse relationship between age at initiation of medication and therapeutic response. Furthermore, beneficial responses were specific to upper-extremity function and expressive language. These results suggest that younger children are more likely to respond to trihexyphenidyl and that primary functional benefits include improved fine motor abilities and expressive language. A prospective masked study with a standardized clinical instrument is needed to confirm these findings.

Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies.

Magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders.

Neuroimaging: applications in disorders of early brain development.

Neuroimaging techniques have established new connections between etiological factors and disorders of early brain development. Neuroimaging has also strengthened the link between patterns of selective vulnerability in the developing brain and clinical syndromes, especially cerebral palsy. Both computed tomography (CT) and magnetic resonance imaging (MRI) identify early developmental malformations, including neural tube defects, callosal dysgenesis, neuronal migration disorders, posterior fossa malformations, and hydrocephalus. Periventricular white matter damage, most commonly seen in premature infants, is best visualized by cranial ultrasonography in the neonatal period and on MRI later in childhood. In term infants and children with genetic metabolic diseases, various applications of nuclear magnetic resonance, including MRI, have important diagnostic roles. The utility of diffusion-weighted imaging, MR spectroscopy, and functional MRI to further understanding of brain injury, biochemistry, and function is under active investigation. In summary, selecting the appropriate neuroimaging technique can improve diagnosis and management of childhood neurodevelopmental disorders.

Periventricular leukomalacia: relationship between lateral ventricular volume on brain MR images and severity of cognitive and motor impairment.

PURPOSE: To evaluate the utility of lateral ventricular volume measurements in predicting motor and cognitive impairment severity in children with periventricular leukomalacia (PVL), with or without seizures. MATERIALS AND METHODS: The charts of children with spastic cerebral palsy and PVL documented on brain magnetic resonance (MR) images were reviewed. Affected children were grouped by motor and cognitive impairment severity and seizure disorder. An age-matched control group was established. Lateral ventricular volumes were measured on two-dimensional T2-weighted spin-echo MR images. Analysis of variance was used to identify significant differences in mean lateral ventricular volume between groups. Paired analyses of differences were performed with the Bonferroni t method. RESULTS: Thirty-six children (24 boys, 12 girls) with spastic cerebral palsy and PVL and 21 age-matched control subjects (14 boys, seven girls) were identified. Mean lateral ventricular volumes of the moderate and marked motor deficit groups were significantly larger than those of the control and mild motor deficit groups (F = 29.24; alpha = .01). Mean lateral ventricular volumes of all cognitive impairment groups were significantly larger than those of the control and no-cognitive-impairment groups (F = 21.101 alpha = .01). There was no difference in mean lateral ventricular volume between children with PVL with or without seizures. CONCLUSION: Lateral ventricular volume measurements can be used as quantitative markers of clinical impairment severity and as clinical outcome predictors before formal testing is possible.

Homozygous factor-V mutation as a genetic cause of perinatal thrombosis and cerebral palsy.

A 5-year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor-V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal-vein thrombosis, venous-sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.

Trihexyphenidyl in posthemorrhagic dystonia: motor and language effects.

Trihexyphenidyl has been found to be an effective treatment for dystonic movement disorders, improving gross motor function in patients with axial and torsional dystonia, tremors, and myoclonus. In this report, improvements in fine motor control, language, and oral motor skills are described with trihexyphenidyl in an 8-year-old female who developed dystonia after spontaneous bilateral putamenal hemorrhages. No adverse side effects occurred. The mechanism of action of trihexyphenidyl is believed to be in the basal ganglia where it inhibits muscarinic cholinergic receptors and increases the turnover of dopamine.

Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes.

Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We report a series of patients with motor disorders seen in children with extrapyramidal CP in whom brain magnetic resonance imaging abnormalities provided important diagnostic clues in distinguishing genetic-metabolic disorders from other causes. One cause of static extrapyramidal CP, hypoxic-ischemic encephalopathy at the end of a term gestation, produces a characteristic pattern of hyperintense signal and atrophy in the putamen and thalamus. Other signal abnormalities and atrophy in the putamen, globus pallidus, or caudate can point to genetic-metabolic diseases, including disorders of mitochondrial and organic acid metabolism. Progress in understanding and treating genetic diseases of the developing brain makes it essential to diagnose disorders that masquerade as static CP. Brain magnetic resonance imaging is a useful diagnostic tool in the initial evaluation of children who appear to have CP.

Neuroimaging in the high-risk infant: relationship to outcome.

Early brain development involves a genetically programmed, spatially organized, and temporally orchestrated cascade of events. Deleterious prenatal perinatal events may disrupt this sequence and lead to a spectrum of developmental impairments including cerebral palsy and mental retardation. Before the advent of cranial ultrasonography, cranial tomography, and magnetic resonance imaging, neuropathologic correlations were usually established post mortem. These neuroimaging modalities have improved the identification of brain lesions in surviving high-risk preterm and term infants. This has permitted inferences as to timing and pathophysiologic condition of the insult(s) and has facilitated correlations with clinical examination. In very low birth weight infants ultrasonographic abnormalities reflecting white matter damage have the strongest correlations with cerebral palsy: (1) persistent ventricular enlargement or persistent parenchymal echodensities carry a 50% risk for cerebral palsy, and (2) large bilateral cysts in periventricular white matter carry a risk approaching 75% to 95%. In term infants neuroimaging studies show selective vulnerability in cerebral cortex and basal ganglia. This article reviews relationships between neuroimaging findings and outcome to help clinicians interpret the results and to gain an understanding of risk in their patients.

Quantitative assessment of antimalarial activities from Malaysian Plasmodium falciparum isolates by modified in vitro microtechnique.

Malaysian, TGR (Thailand), and Gambian (West African) Plasmodium falciparum isolates were cultured in vitro by the candle jar method and were characterized for their susceptibilities to present antimalarial drugs by the modified in vitro microtechnique. Results showed that 93 and 47% of the Malaysian isolates were resistant at 50% inhibitory concentrations of 0.1415 to 0.7737 and 0.1025 to 0.1975 microM, respectively, while the rest were susceptible to choloroquine and cycloguanil at 0.0376 and 0.0306 to 0.0954 microM, respectively. All isolates were susceptible to mefloquine, quinine, and pyrimethamine at 0.0026 to 0.0172, 0.0062 to 0.0854, and 0.0149 to 0.0663 microM, respectively. In contrast, the Gambian isolate was susceptible to multiple drugs at 0.0024 to 0.0282 microM; TGR was resistant to chloroquine at 0.8147 microM but was susceptible to mefloquine, quinine, cycloguanil, and pyrimethamine at 0.0024, 0.0096, 0.0143, and 0.0495 microM, respectively.

Maternal estimates of developmental age in preschool children.

OBJECTIVE: To investigate the accuracy of maternal estimates of developmental age in preschool children with suspected developmental delay. METHODS: In a sample of 139 preschool children, aged 5 to 60 months, mothers were asked before evaluation to estimate the developmental age of their child. Maternal estimates were converted to a developmental quotient (DQ) and compared with results from standardized tests of cognitive functioning, adaptive abilities, expressive and receptive language, and visual-motor skills. RESULTS: A high correlation was found (r = 0.82; p < 0.0001) between maternal-estimate DQ and actual DQ (mean of test scores). Most mothers estimated within 15% of their child's actual functioning, and 84% of mothers estimated within +/- 5 months of actual functioning. Multiple regression found no factors that would identify mothers who were more or less accurate in estimating developmental age. Maternal-estimate DQ was sensitive (83%) and specific (83%) for mental retardation. CONCLUSION: Maternal estimates provide an accurate measure of developmental functioning and could be successfully incorporated into routine developmental surveillance of preschool children.

MRI in motor delay: important adjunct to classification of cerebral palsy.

Cranial magnetic resonance imaging (MRI) was performed prospectively in 45 children (ages 3-27 months) with clinically documented motor delay to evaluate the ability of MRI to determine etiologic factors, to determine whether myelination correlated with motor delay, and whether the clinical category corresponded with the imaging findings. Of the 22 children diagnosed clinically as having major motor delay (i.e., cerebral palsy), 77% had magnetic resonance imaging abnormalities. In 23%, etiologic associations were established from MRI alone and in 32% a clinically suspected etiology was supported. No children had myelination delay as the sole abnormality. In 23 children with minor motor delay, only 17% had abnormal scans. Clearly, MRI provided useful information in the majority of children with cerebral palsy; therefore, a classification system is proposed in which MRI can be used in conjunction with clinical assessment to specify more precisely the etiologic factors in cerebral palsy.

Clinical Adaptive Test/Clinical Linguistic Auditory Milestone Scale in early cognitive assessment.

Correlations between the Clinical Adaptive Test/Clinical Linguistic Auditory Milestone Scale (CAT/CLAMS) and the Bayley Scales of Infant Development--Mental Scale (BSID) were examined in 61 infants and toddlers with suspected developmental delay. Highly significant correlations were found between the two instruments. Gender, race, and gestational age did not influence the relationship between CAT/CLAMS and BSID scores. The CAT/CLAMS was both sensitive (88%) and specific (67%) for mental retardation (BSID < 70). The CAT/CLAMS correlates with the BSID and can be used as an instrument for detecting cognitive delay.

The mesial-temporal lobe and autism: case report and review.

Human and non-human primate research has shown that pathological processes affecting the temporal lobe, particularly the amygdala and hippocampus, are related to the development of the autistic syndrome. This case report describes a young male child with left temporal oligodendroglioma, who demonstrated a constellation of autistic behaviors meeting DSM-III-R criteria for pervasive developmental disorder. Abnormalities in social interaction, affective expression and communication were particularly evident. Some of the symptoms improved after tumor resection, while other signs of qualitative abnormalities in development emerged or persisted. This case adds evidence to the hypothesis that damage to mesial-temporal structures at an early developmental period may lead to the autistic syndrome.