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PubMed2004

Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.

BACKGROUND: Fragile X syndrome is one of the world's leading hereditary causes of developmental delay in males. The past decade has witnessed an explosion of research that has begun to unravel the condition at its various levels: from the genetic and brain levels to the cognitive level, and then to the environmental and behavioural levels. Our aim in this review is to attempt to integrate some of the extensive body of knowledge to move the research a step closer to understanding how the dynamics of atypical development can influence the specific cognitive and behavioural end-states frequently observed in children and adolescents with fragile X syndrome. METHODS: We conducted a review of the current neuropsychological and neuropsychiatric approaches that have attempted to delineate the pattern of 'spared' and 'impaired' functions associated with the phenotype. RESULTS: The profile of findings suggests that fragile X syndrome should not be viewed merely as a catalogue of spared and impaired cognitive functions or modules. Instead, there appears to be a process of almost gradual modularisation whereby cognitive mechanisms become domain specific as a function of development itself (Karmiloff-Smith, 1992). The results of a decade of intense research point towards an early weakness in one or more components of executive control rather than single, static higher-level deficits (e.g., spatial cognition, speech processing). This weakness affects both the development of more complex functions and current performance. CONCLUSIONS: The prevailing tendency to interpret developmental disorders in terms of fixed damage to distinct modular functions needs to be reconsidered. We offer this review as an example of an alternative approach, attempting to identify an initial deficit and its consequences for the course of development. Through better definition of the cognitive and behavioural phenotype, in combination with current progress in brain imaging techniques and molecular studies, the next decade should continue to hold exciting promise for fragile X syndrome and other neurodevelopmental disorders.

Attention Deficit Disorder with Hyperactivity↗

PubMed2005

Measuring functional skills in preschool children at risk for neurodevelopmental disabilities.

Approximately 400,000 preschool children have a major neurodevelopmental disorder impacting on mobility, cognitive-adaptive, or communicative skills. As many as 1 in 3 children live at psychosocial disadvantage because of poverty, parental mental illness or substance misuse, or low parental educational (i.e. less than high school). In the past decade over 500,000 preschool children have survived being born with very low birth weight (1001-1500 g) or extremely low birth weight status (< or =1000 g). Given the scope of these risks and the importance of optimizing outcomes for vulnerable children, this review will highlight advances in functional assessment using adaptive and multiattribute health-related quality of life measures. A framework based on the International Classification of Functioning, (ICF) World Health Organization and the Dynamic Kaleidoscope Model of the Institute of Medicine (IOM) will be described and illustrated with examples of children receiving new biomedical technologies. Assessment scales were chosen for review if they measured adaptive skills or multiattribute health status and had been used in child disability populations. Instruments reviewed include the Infant and Toddler Quality of Life Questionnaire (ITQOL), The Netherlands Office of Prevention Assessment of Preschool Quality of Life (TAPQOL), the Health Status Classification System-PreSchool (HSCS-PS), the Pediatric Evaluation of Disability Inventory (PEDI), the Vineland Adaptive Behavior Scale (VABS), the Warner Inventory of Developmental and Emerging Adaptive and Functional Skills (Warner IDEA-FS), the Scales of Independent Behavior Revised (SIB-R) Early Development Form, the Pediatric Functional Independence Measure (WeeFIM), and the Pediatric Quality of Life Inventory Version 4 (PedsQL 4.0). By measuring functional and adaptive skills and health-related quality of life, we can help devise intervention strategies that optimize developmental independence, family supports, and community participation among children who are at risk for neurodevelopmental disabilities or who have evolving established neurodevelopmental disabilities.

Child, Preschool↗

PubMed2006

Fetal alcohol spectrum disorders: a practical clinical approach to diagnosis.

In utero exposure to alcohol can have numerous adverse effects on a developing fetus. These effects represent a spectrum of structural anomalies and neurocognitive and behavioral disabilities that have recently been termed fetal alcohol spectrum disorders (FASD). Children at the most severe end of this spectrum and displaying the complete phenotype of characteristic facial anomalies, growth retardation and developmental abnormalities of the central nervous system are defined as having fetal alcohol syndrome (FAS). While FAS is the most readily clinically recognized form of FASD, other categories within the continuum of adverse effects due to prenatal alcohol exposure are becoming better defined. These include partial fetal alcohol syndrome (PFAS), alcohol-related birth defects (ARBD) and alcohol-related neurodevelopmental disorder (ARND). As more is learned regarding the exact manifestations of alcohol on brain development, these classifications may be expanded and/or refined. Because FASD represents a major public health concern, early recognition of at-risk children is important for initiating interventional strategies. Thus, the purpose of this report is to educate practicing physicians about the recognizable phenotypes of FASD in order to accurately identify these children and implement the most appropriate management plans.

Alcohol-Induced Disorders↗

PubMed2002

Hereditary spastic paraplegia.

The hereditary spastic paraplegias are a large group of clinically similar disorders. Seventeen different HSP loci have been discovered thus far. Different genetic forms of uncomplicated HSP are clinically very similar. Except for the average age at which symptoms appear, different genetic types of uncomplicated HSP cannot be distinguished reliably by clinical parameters alone. For most subjects, HSP is a diagnosis of exclusion. The differential diagnosis includes treatable disorders as well as those for which the prognosis is quite different from HSP. Even with the emerging availability of laboratory testing for HSP gene mutations, it is still essential that alternative disorders be excluded by careful history, examination, laboratory studies, neuroimaging, and neurophysiologic evaluation. Uncomplicated HSP is due to axonal degeneration at the ends of the longest motor (corticospinal tract) and sensory (dorsal column fibers) in the spinal cord. The observation that some forms begin in childhood and are essentially nonprogressive while other forms begin in adulthood and are slowly progressive raises the possibility that some forms of HSP (e.g.; those associated with LICAM gene mutations and possibly those due to SPG3A mutations) are neurodevelopmental disorders; and other forms are truly neurodegenerative disorders. The mechanisms by which spastin, atlastin, and paraplegin mutations cause axonal degeneration that results in clinically similar forms of HSP are not known. Nonetheless, the identification of these genes and the ability to generate animal models of these forms of HSP will permit direct exploration of the molecular basis of HSP.

Chromosome Mapping↗

PubMed2002

Brain-derived neurotrophic factor (BDNF) mRNA in rats with neonatal ibotenic acid lesions of the ventral hippocampus.

Increasing evidence suggests that schizophrenia is a neurodevelopmental disorder with a progressive course characterized by worsening of symptoms and morphological alterations within the brain. This suggests that a neurodegenerative component may exist in schizophrenia. The role of brain-derived neurotrophic factor (BDNF) in neurodevelopment, cell viability and synaptic plasticity led to the investigation of BDNF as a potential candidate molecule in the pathophysiology of schizophrenia. BDNF mRNA was examined by in situ hybridization in the prefrontal cortex and hippocampus of animals with neonatal ibotenic acid lesions of the ventral hippocampus, a putative neurodevelopmental animal model of schizophrenia. Results demonstrate that animals with neonatal ibotenic acid lesions of the ventral hippocampus have reduced basal levels of BDNF mRNA. It is possible that alterations in this trophic factor render animals more susceptible to neurodegenerative insults.

Animals↗

PubMed2003

Neonatal 192 IgG-saporin lesion of forebrain cholinergic neurons: focus on the life span?

The cholinergic immunotoxin 192 IgG-saporin can be used to effect selective, substantial and permanent lesions of basal forebrain neurons in the neonatal rat. Human neurodevelopmental disorders such as Rett and Down syndromes are characterized by early cholinergic dysfunction and cognitive impairment. Hence, the study of the neonatal 192 IgG-saporin lesioned rat should illuminate the role of cholinergic dysfunction in these human disorders. To date, we and others have failed to observe notable effects of this neonatal lesion on learning and memory, even when combined with a severe lesion of noradrenergic forebrain innervation. As well, attention seems not to be affected. However, complex problem solving (intelligence?) is compromised by the cholinergic lesion. There also appears to be reduced cortical dendritic branching indicative of synapse loss but further research is needed to characterize this. Even if the synapse loss due to neonatal cholinergic lesion is modest and thus insufficient to cause a significant neurodevelopmental dysfunction, its consequences may be devastating during old age.

Acetylcholine↗

PubMed2004

Autistic spectrum disorder and the fragile X premutation.

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.

Adult↗

PubMed2000

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.

Brain↗

PubMed2024

Genome-wide copy number variation association study in anorexia nervosa.

This study represents the first large-scale investigation of rare (<1% population frequency) copy number variants (CNVs) in anorexia nervosa (AN). Large, rare CNVs are reported to be causally associated with anthropometric traits, neurodevelopmental disorders, and schizophrenia, yet their role in the genetic basis of AN is unclear. Using genome-wide association study (GWAS) array data from the Anorexia Nervosa Genetics Initiative (ANGI), which included 7414 AN case and 5044 controls, we investigated the association of 67 well-established syndromic CNVs and 178 pleiotropic disease-risk dosage-sensitive CNVs with AN. To identify novel CNV regions (CNVRs) that increase the risk of AN, we conducted genome-wide association studies with a focus on rare CNV-breakpoints (CNV-GWAS). We found no net enrichment of rare CNVs, either deletions or duplications, in AN, and none of the well-established syndromic or pleiotropic CNVs had a significant association with AN status. However, the CNV-GWAS found 21 nominally associated CNVRs that contribute to AN risk, covering protein-coding genes implicated in synaptic function, metabolic/mitochondrial factors, and lipid characteristics, like the CD36 (7q21.11) gene, which transports long-chain fatty acids into cells. CNVRs intersecting genes previously related to neurodevelopmental traits include deletions of NRXN1 intron 5 (2p16.3), IMMP2L (7q31.1), and PTPRD (9p23). Overall, given that our study is well powered to detect the CNV burden level reported for schizophrenia, we can conclude that rare CNVs have a limited role in the etiology of AN, as reported for bipolar disorder. Our nominal associations for the 21 discovered CNVRs are consistent with AN being a metabo-psychiatric trait, as demonstrated by the common genetic architecture of AN, and we provide association results to allow for replication in future research.

Humans↗

PubMed1976

Minimal brain dysfunction/specific learning disability: a clinical approach for the primary physician.

Minimal brain dysfunction is a neurodevelopmental disorder which can be found in nearly 20% of school children. It is characterized by evidences of immaturity involving control of activity, emotions, and behavior, and by specific learning disabilities involving the communicating skills needed in reading, writing, and mathematics. The prime deficits in the classroom are an inability to maintain attention and concentration and an inability to skillfully blend the auditory and visual functions essential in language performance. Medical evaluation will reveal many of the "soft signs" of neurologic involvement, and educational appraisal will indicate a wide scatter in testing scores with a marked discrepancy between evaluated potential and actual classroom achievement. Remedial efforts directed at early detection, relief from pressure and unjust punishment or ridicule from parents and teachers, and adjustment of the educational environment with consideration of the child's individual talents, combined with the judicious use of medications to prolong attention span and improve neurodevelopmental maturity, hold promise of improving the lot of most involved children. There are valid indications that expansion of such programs can do much to prevent these youngsters from developing severe personality maladjustment and delinquent behavior, as well as emotional illness in later life.

Attention Deficit Disorder with Hyperactivity↗

PubMedDate not supplied

[Transient periventricular echodensities (TPE) in preterm infants under 1500 gramms: an analysis of the outcome of the last 10 years].

BACKGROUND: The aim of our study was to analyze neurodevelopmental outcome in preterm infants with TPE. PATIENTS: 46 preterm infants with a birthweight (BW) < or = 1500 g were included in the study. They all had TPE in parieto-occipital location (some combined with frontal flares). Exclusion criteria were PVL II-IV, intraventricular hemorrhage, asphyxia and isolated frontal TPE. METHOD: We analyzed ultrasound scans (1992 - 2001) of patients with TPE (diameter > 1 cm, visible in both sagittal and coronal planes, duration > 7 days), and neurological follow-up visits (date of demission, corrected age of 4, 8, 12 months, and after that every 2 years until 6 years of age) regarding the neurodevelopmental outcome. We devided the patients in group 1 (duration of TPE 8 - 14 days) and group 2 (duration of TPE > 14 days) and then analyzed the groups regarding neurodevelopmental disorders and factors increasing the risk of occurrence of TPE. RESULTS: From 1992 - 2001 578 children < or = 1500 g were admitted at our department. 48 patients (8,3 %) fulfilled the entry criteria, 2 of them died, so 46 were included in the study. In group 1 (10 patients) the median gestational age (GA) was 28 weeks (range 25 - 31), median BW 1075 g (range 685 - 1430), 6 children were neurologically unimpaired, one developed a motor handicap, and 3 a psychomotor retardation. In group 2 (36 patients) the median GA was 28 weeks (range 25 - 35), median BW 1034,5 g (range 540 - 1470), 24 patients were neurologically unimpaired, 7 developed a motor handicap, and 5 a psychomotor retardation. No statistical difference was found between the groups neither in neurodevelopmental outcome nor factors increasing the risk of the occurrence of TPE. CONCLUSIONS: Obviously, the finding of TPE is of clinical relevance already at a duration of only 7 days regarding later neurological development.

Age Factors↗

PubMed2002

Sleep-wake patterns in children with intrauterine growth retardation.

The purpose of this study was to characterize the sleep patterns of children with intrauterine growth retardation, known to be at risk for neurodevelopmental disorders, and seek a possible correlation with behavior, concentration, and attention problems. The sleep patterns of 26 children with intrauterine growth retardation aged 4 to 7 years were compared with those of 47 control children using activity monitors (actigraphs). In addition, data were collected from the parents regarding sleep habits, behavior, concentration, and attention. Children with intrauterine growth retardation aged 4 to 7 years were found to have a tendency toward poorer quality of sleep than their matched controls. This inclination was statistically significant only for one sleep measure, the true sleep time. A tendency toward increased fragmentation of sleep, prolonged waking, and decreased sleep efficiency, although not statistically significant in this study, was demonstrated. Our results showed that 58% of the children with intrauterine growth retardation, compared with 40% of the children in the control group, could be defined as "poor sleepers" (sleep efficiency lower than 90% or three or more waking episodes per night). This disturbed sleep profile is probably an integral part of the neurodevelopmental profile typical of these at-risk children. No significant correlations were found between sleep quality and behavior, concentration, and attention problems.

Attention Deficit Disorder with Hyperactivity↗

PubMed2026

Understanding septo-optic dysplasia: Endocrine implications and ophthalmic consequences.

Septo-optic dysplasia (SOD) is a heterogeneous neurodevelopmental disorder classically defined by optic nerve hypoplasia, hypothalamo-pituitary dysfunction, and midline brain abnormalities, although the full triad is not consistently present. This review synthesises current evidence on the developmental, endocrine, ophthalmic, and neuroradiological dimensions of the SOD/optic nerve hypoplasia spectrum. Shared embryological origins of the optic pathways, hypothalamus, and pituitary, together with disruption of inductive signalling pathways and pathogenic variants in developmental regulators including SOX2, HESX1, SOX3, and OTX2, provide a mechanistic basis for combined ocular and pituitary phenotypes. Clinically, affected children may present with nystagmus, strabismus, visual impairment, neonatal hypoglycaemia, or evolving pituitary hormone deficiencies, and remain at risk of neurodevelopmental morbidity. Neuroradiological studies have expanded the phenotype beyond classical midline defects to include malformations of cortical development and SOD-plus presentations. Current evidence supports longitudinal endocrine surveillance, detailed ophthalmic assessment, and multidisciplinary care, including timely hormone replacement and developmental support where indicated.

developmental genetics↗

PubMed1996

Psychiatric problems in children with hemiplegia: cross sectional epidemiological survey.

OBJECTIVE: To examine the prevalence and predictors of psychiatric problems in children with hemiplegia. DESIGN: Cross sectional questionnaire survey of an epidemiological sample with individual assessments of a representative subgroup. The questionnaire survey was repeated on school age subjects four years later. SUBJECTS: 428 hemiplegic children age 2 1/2-16 years, of whom 149 (aged 6-10 years) were individually assessed. MAIN OUTCOME MEASURES: Psychiatric symptom scores and the occurrence of psychiatric disorder. RESULTS: Psychiatric disorders affected 61% (95% confidence interval 53% to 69%) of subjects as judged by individual assessments and 54% (49% to 59%) and 42% (37% to 47%) as judged from parent and teacher questionnaires, respectively. Few affected children had been in contact with child mental health services. The strongest consistent predictor of psychiatric problems was intelligence quotient (IQ), which was highly correlated with an index of neurological severity; age, sex, and laterality of lesion had little or no predictive power. CONCLUSION: Though most hemiplegic children have considerable emotional or behavioural difficulties, these psychological complications commonly go unrecognised or untreated. Comprehensive health provision for children with chronic neurodevelopmental disorders such as hemiplegia should be psychologically as well as physically oriented.

Child↗

PubMed2005

A systems-based computational model for dose-response comparisons of two mode of action hypotheses for ethanol-induced neurodevelopmental toxicity.

Investigations into the potential mechanisms for ethanol-induced developmental toxicity have been ongoing for over 30 years since Fetal Alcohol Syndrome (FAS) was first described. Neurodevelopmental endpoints are particularly sensitive to in utero exposure to alcohol as suggested by the more prevalent alcohol-related neurodevelopmental disorder (ARND). The inhibition of proliferation during neurogenesis and the induction of apoptosis during the period of synaptogenesis have been identified as potentially important mechanisms for ARND. However, it is unclear how these two mechanisms quantitatively relate to the dose and timing of exposure. We have extended our model of neocortical neurogenesis to evaluate apoptosis during synaptogenesis. This model construct allows quantitative evaluation of the relative impacts on neuronal proliferation versus apoptosis during neocortical development. Ethanol-induced lengthening of the cell cycle of neural progenitor cells during rat neocortical neurogenesis (G13-G19) is used to compute the number of neurons lost after exposure during neurogenesis. Ethanol-induced dose-dependent increases in cell death rates are applied to our apoptosis model during rat synaptogenesis (P0-P14), when programmed cell death plays a major role in shaping the future neocortex. At a human blood ethanol concentration that occurs after 3-5 drinks ( approximately 150 mg/dl), our model predicts a 20-30% neuronal deficit due to inhibition of proliferation during neurogenesis, while a similar exposure during synaptogenesis suggests a 7-9% neuronal loss through induction of cell death. Experimental in vitro and in vivo dose-response research and stereological research on long-term neuronal loss after developmental exposure to ethanol is compared to our model predictions. Our computational model allows for quantitative, systems-level comparisons of mechanistic hypotheses for perturbations during specific neurodevelopmental periods.

Animals↗

PubMed2004

A longitudinal study of language development in two children with Williams syndrome.

Williams syndrome (WS) is often cited as the prime example within developmental disorders of the dissociation of language from other cognitive skills, particularly from visuo-motor skills. This claim has been responsible for the challenges posed by this population to cognitive theories and to models of language acquisition. Two Hebrew-speaking children with WS were followed longitudinally for 18 months, from the first occurrences of two word combinations. Y was 3.9-5.3 and BT was 4.2-5.8 during data collection. Both children had an MLU of 1.8-2.8. The children's linguistic profiles were compared to the profiles of typically-developing (TD) children of similar MLU as well as to the profiles of 11 children with a variety of neurodevelopmental disorders (ND), matched on MLU. The profiles exhibited by the children with WS throughout the period of the study differed from the profiles seen in both control groups.

Case-Control Studies↗

PubMed2005

Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis.

The diagnosis of fetal alcohol spectrum disorder (FASD) is complex and guidelines are warranted. A subcommittee of the Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder reviewed, analysed and integrated current approaches to diagnosis to reach agreement on a standard in Canada. The purpose of this paper is to review and clarify the use of current diagnostic systems and make recommendations on their application for diagnosis of FASD-related disabilities in people of all ages. The guidelines are based on widespread consultation of expert practitioners and partners in the field. The guidelines have been organized into 7 categories: screening and referral; the physical examination and differential diagnosis; the neurobehavioural assessment; and treatment and follow-up; maternal alcohol history in pregnancy; diagnostic criteria for fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder; and harmonization of Institute of Medicine and 4-Digit Diagnostic Code approaches. The diagnosis requires a comprehensive history and physical and neurobehavioural assessments; a multidisciplinary approach is necessary. These are the first Canadian guidelines for the diagnosis of FAS and its related disabilities, developed by broad-based consultation among experts in diagnosis.

Abnormalities, Multiple↗

PubMed2004

Neonatal amygdala lesions and juvenile isolation in the rat: differential effects on locomotor and social behavior later in life.

Pervasive developmental disorders such as autism are characterized by deficits in social interaction and communication. Disturbed development of limbic structures such as the amygdala might underlie these deficits. The authors examined the effects of amygdala lesions on Postnatal Day 7 and juvenile isolation (2 weeks of individual housing during Weeks 4 and 5 of life) on rat locomotor and social activity later in life. Before puberty, but more pronounced after puberty, lesioned rats displayed enhanced locomotor activity. Adult social behavior was selectively disturbed by the lesion and the isolation procedure. In particular, the combination of neonatal lesions and juvenile isolation severely disrupted social interaction. These results suggest that a combination of neonatal amygdala damage and juvenile isolation may serve as an animal model of certain psychopathological neurodevelopmental disorders, such as autism.

Age Factors↗