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PubMed2006

Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.

BACKGROUND: Patients with the karyotypic finding of a terminal deletion in the long arm of chromosome 18 (18q- syndrome) commonly display cerebral dysmyelination and developmental delay. To our knowledge, all reported cases characterized by molecular analysis who had no mental retardation as confirmed by neuropsychological testing had a chromosomal breakpoint within the two most distal bands, 18q22 or 18q23, leading to a deletion of 16 Mb or less. AIMS OF THE STUDY: It was the aim of this study to improve the karyotype-phenotype correlation in 18q- syndrome by thoroughly analyzing the deletion size and the mental and radiologic status in a 23-year-old woman with a terminal 18q deletion. We performed cytogenetic and molecular cytogenetic analysis, brain MRI, and extended neuropsychological testing. RESULTS: Molecular karyotyping revealed a 17 Mb deletion of terminal 18q with a breakpoint in 18q21.33 and no evidence for mosaicism. While brain MRI demonstrated severe global dysmyelination, the patient showed a neuropsychological pattern that allowed for normal psychosocial and job achievement. After delayed development in childhood, the patient caught up during puberty and showed normal verbal intelligence and skills at 23 years. However, visual, visual-spatial, visual-constructional, and executive functions were found to be severely impaired. CONCLUSION: Here, we present a patient with one of the largest terminal 18q deletions reported in an individual without obvious mental retardation. Our analysis extends the phenotypic spectrum for individuals with breakpoints in 18q21.33. In addition, this study highlights the fact that severe global dysmyelination may not be associated with general cognitive deficits.

Adult↗
PubMed2000

Health of children adopted from China.

OBJECTIVE: Since 1989, American parents have adopted 18 846 Chinese children. This study assesses the health and developmental status of these children after their arrival in the United States. PATIENTS AND METHODS: A total of 452 children (443 girls) in 2 groups were evaluated. The clinic group children (n = 192) included all Chinese adoptees seen in an international adoption clinic between 1991 and 1998. The travel group comprised 260 of 325 Chinese children placed by a single Massachusetts adoption agency between 1991 and 1996 whose adoptive parents and American physicians responded to mailed questionnaires. One hundred ninety-one of the travel group children were cared for by 1 of us (N.W.H.) during the adoption process in China. RESULTS: Growth and developmental delays were frequent in the clinic group. Z scores </=-2 were found in 39% of children for height, 18% for weight, and 24% for head circumference. The duration of orphanage confinement was inversely proportional to the linear height lag (r =.9), with a loss of 1 month of height age for every 2. 86 months in the orphanage. Of the children, 75% had significant developmental delay in at least 1 domain: gross motor in 55%, fine motor in 49%, cognitive in 32%, language in 43%, social-emotional in 28%, activities of daily living in 30%, and global delays in 44%. The incidence of medical problems was similar in both groups of children (travel group and clinic group). Overall, among the 452 children, elevated lead levels were found in 14%, anemia in 35%, abnormal thyroid function tests in 10%, hepatitis B surface antigen in 6%, hepatitis B surface antibody in 22%, intestinal parasites (usually Giardia) in 9%, and positive skin test results for tuberculosis in 3.5%. One child each had hepatitis C exposure and congenital syphilis. No child had human immunodeficiency virus infection. Unsuspected significant medical diagnoses, including hearing loss, orthopedic problems, and congenital anomalies, were found in 18% (81/452) of the children. CONCLUSIONS: Chinese adoptees display a similar pattern of growth and developmental delays and medical problems as seen in other groups of internationally adopted children. An exception is the increased incidence of elevated lead levels (overall 14%). Although serious medical and developmental issues were found among the children, overall their condition was better than expected based on recent publicity about conditions in the Chinese orphanages. The long-term outcome of these children remains unknown. China, adoption, orphanage, institutionalized child.

Adoption↗
PubMed2004

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.

The central nervous system of persons with Down syndrome presents cytoarchitectural abnormalities that likely result from gene-dosage effects affecting the expression of key developmental genes. To test this hypothesis, we have investigated the transcriptome of the cerebellum of the Ts1Cje mouse model of Down syndrome during postnatal development using microarrays and quantitative PCR (qPCR). Genes present in three copies were consistently overexpressed, with a mean ratio relative to euploid of 1.52 as determined by qPCR. Out of 63 three-copy genes tested, only five, nine and seven genes had ratios >2 or <1.2 at postnatal days 0 (P0), P15 and P30, respectively. This gene-dosage effect was associated with a dysregulation of the expression of some two-copy genes. Out of 8258 genes examined, the Ts1Cje/euploid ratios differed significantly from 1.0 for 406 (80 and 154 with ratios above 1.5 and below 0.7, respectively), 333 (11 above 1.5 and 55 below 0.7) and 246 genes (59 above 1.5 and 69 below 0.7) at P0, P15 and P30, respectively. Among the two-copy genes differentially expressed in the trisomic cerebellum, six homeobox genes, two belonging to the Notch pathway, were severely repressed. Overall, at P0, transcripts involved in cell differentiation and development were over-represented among the dysregulated genes, suggesting that cell differentiation and migration might be more altered than cell proliferation. Finally, global gene profiling revealed that transcription in Ts1Cje mice is more affected by the developmental changes than by the trisomic state, and that there is no apparent detectable delay in the postnatal development of the cerebellum of Ts1Cje mice.

Animals↗
PubMed2001

Relationship between infant sleep position and motor development in preterm infants.

To determine whether motor development in premature infants varies according to sleep position, we evaluated 213 infants <1750 g birth weight enrolled in the Collaborative Home Infant Monitoring Evaluation (CHIME). At 56 weeks postconceptional age (PCA), sleep position was determined by maternal report, and the Bayley Scales of Infant Development 2nd Edition (BSID-II) were performed. Infants who slept supine were less likely than infants who slept prone to receive credit for maintaining the head elevated to 45 degrees (p = .021), and infants who slept nonprone were less likely than prone sleepers to receive credit for maintaining the head elevated to 90 degrees and lowering with control (p = .001). The Psychomotor and Mental Development Indices at 56 and 92 weeks PCA were not altered by usual sleep position at 56 weeks PCA. In summary, infants sleeping supine are less able to lift the head and lower with control at 56 weeks PCA, but global developmental status was unaffected. Supine sleeping has been associated with decreased risk for sudden infant death syndrome, but compensatory strategies while awake may be needed to avoid delayed acquisition of head control.

Child Development↗
PubMed2005

Cognitive function in preschool children after epilepsy surgery: rationale for early intervention.

PURPOSE: The detrimental effect of frequent early seizures on the cognitive potential of children is a significant clinical issue. Epilepsy surgery in childhood offers a good prognosis for seizure control and improved developmental outcome. We studied the postoperative outcome and the developmental velocity after surgery and analyzed risk factors for developmental delay in 50 consecutive preschool children treated surgically for severe epilepsy at ages 3 to 7 years. METHODS: Pre- and postoperative developmental quotients (DQs) were analyzed with analysis of variance; stepwise linear regressions were performed on preoperative DQs and on a difference score between post- and preoperative DQs to determine risk factors for preoperative development and factors influencing postoperative development. RESULTS: Of the 50 patients, 70% were retarded, with IQ < 70; 16% were of average intelligence, with IQ ranging from 85 to 115. Age at seizure onset and extent of lesion were predictive variables for preoperative cognitive development. Six to 12 months after surgery (early postoperative phase), 66% were seizure free (Engel outcome class I), 26% had substantial to worthwhile seizure reduction (classes II and III), and 8% were unchanged (class IV). Forty-one (82%) children showed stable velocity of development; three children showed gains of >/=15 IQ points; three had developmental decline (loss of >/=10 IQ points), which was transient in two children; and three children moved from not assessable to assessable. At last follow-up (6 months to 10 years after surgery), 11 children showed IQ/DQ gains of >/=15 IQ points. Gains in IQ were observed only in seizure-free children and were stable over time. Shorter duration of epilepsy was significantly associated with a postoperative increase in DQ. CONCLUSIONS: (a) Substantial global mental delay is common in young children treated for epilepsy with surgery; (b) In most patients, postoperative development proceeded at a stable velocity; (c) Catch-up development may occur but only in seizure-free patients; (d) Substantial cognitive losses were noted in only one child. and (e) Early seizure control stabilized developmental velocity in this patient cohort.

Cerebral Cortex↗
PubMed2006

rag genes: novel components of the RamR regulon that trigger morphological differentiation in Streptomyces coelicolor.

The filamentous bacterium, Streptomyces coelicolor, undergoes a complex cycle of growth and development in which morphological differentiation coincides with the activation of the orphan response regulator RamR and the biosynthesis of a morphogenic peptide called SapB. SapB is a lantibiotic-like molecule derived from the product of the ramS gene that promotes formation of aerial hyphae by breaking the aqueous tension on the surface of the substrate mycelium. A ramR-disrupted mutant is delayed in aerial hyphae formation while constitutive overexpression of ramR accelerates aerial hyphae formation in the wild-type strain and restores SapB biosynthesis and aerial hyphae formation in all developmental mutants (bld) tested. Using DNA microarrays to globally identify S. coelicolor genes whose transcription was affected by ramR mutation or overexpression, we discovered a ramR-activated locus of contiguous cotranscribed developmental genes that modulate both aerial hyphae formation and sporulation. The genes of this cluster of ramR-activated genes (rag), which are chromosomally distant from previously known RamR-regulated genes, include: ragA (sco4075) and ragB (sco4074), which encode two subunits of an ABC transporter, ragK (sco4073), a putative histidine kinase, and ragR (sco4072), a ramR paralogue. Promoter mapping and protein-DNA binding experiments indicate that RamR activates ragABKR transcription directly, by binding to three sequence motifs in the ragABKR promoter region. A constructed ragABKR null mutant was able to synthesize SapB and erect aerial hyphae; however, these hyphae were unusually branched, reminiscent of substrate hyphae. Subsequent stages of differentiation, septation and sporogenesis were delayed. The role of ragABKR in aerial hyphae formation was shown both by epistasis (ragR-activated aerial hyphae formation in bld mutants) and extracellular complementation (ragR-induced synthesis of an activity allowing aerial hyphae formation in bld mutants) experiments. In conclusion, the ragABKR locus activates a SapB-independent developmental pathway that is involved in both aerial hyphae formation and sporulation, serving to integrate sequential morphogenic changes.

Bacterial Proteins↗
PubMed1980

Hypertension during pregnancy with and without specific treatment; the development of the children at the age of four years.

In a controlled trial pregnant women who were hypertensive before the 28th week of gestation were randomly allocated to treatment with methyldopa or no anti-hypertensive treatment. The children from these pregnancies have been re-examined at four years of age and their development compared with a random sample from the same maternity hospital population. Their health, height, weight, and the incidence of sight, hearing and speech problems did not differ. None had gross neurological abnormalities. Boys in the treated hypertensive group had significantly smaller heads than in the other two groups, but there was no correlation between head circumference and developmental score in this group (r = 0.020). On average the children in the random sample were the most advanced when assessed by a global score of development. In each developmental sector the mean score for the treated hypertensive group was consistently higher than the untreated hypertensive group. We conclude that maternal hypertension is associated with slight developmental delay in early childhood. There are some indications that treatment with methyldopa may reduce this effect.

Child Development↗
PubMed2001

Early cognitive and communication development in children with focal brain lesions.

Early cognitive and language development of children with congenital focal brain lesions, documented by magnetic resonance imaging, was studied in 18 cases, 9 with left-hemisphere damage and 9 with right-hemisphere damage, at about 2 (Time 1) and 4 years of age (Time 2). All of the children showed normal cognitive development, but their global Griffiths Developmental Scales scores were lower at Time 2, and developmental profiles across individual subscales revealed side-specific effects, resembling the adult left/right cerebral hemisphere lesion model. Expressive lexicon and grammar were delayed, more often in left-hemisphere-damaged than in right-hemisphere-damaged children, at Time 1 and Time 2. Functional findings were not related to the size and location of the brain lesion, whereas the presence of epilepsy was a highly significant predictor of cognitive and language outcome, irrespective of the side of the lesion. The stable disadvantage in the verbal domain shown by left-hemisphere-damaged children within the age range of this study might suggest that the left hemisphere has some initial bias for language learning. The effects of right-hemisphere damage were more variable and emerged at a later stage of language development.

Age Factors↗
PubMed2006

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.

Duplications of chromosome 15 may be one of the most common single genetic causes of autism spectrum disorders (ASD), aside from fragile X. Most of the cases are associated with maternally derived interstitial duplication involving 15q11-13. This case report describes a female proband with a maternally derived interstitial duplication of proximal 15q. She did not exhibit any symptoms of ASD apart from some developmental delay. By adolescence, she showed mild dysmorphism, a discrepant profile on the Wechsler Intelligence Scale for Children (Verbal IQ = 87; Performance IQ = 65) and a major deficit in visual-spatial abilities affecting fine motor skills, mathematical reasoning, visual memory and some global reading tasks. This is one of the first reports of a child with a maternal duplication who exhibits a visual-spatial deficit without ASD.

Abnormalities, Multiple↗
PubMed1989

Metabolic correlates of learning disability.

To summarize, the neuropsychologic findings in MSUD and MMA children in both groups demonstrated deficits in cognitive/language areas, but interesting individual differences existed. For example, a marked contrast in abilities existed between NT and GV, even taking into account the age difference between these children with MSUD. While NT's general intellectual functioning was within the low-average range, GV was severely impaired. In more specific areas of cognitive functioning, NT had an uneven performance profile with areas of strengths and weaknesses, while GV evidenced a flat profile with significant impairment in all areas. NT demonstrated mild delay in visual-spatial processing, articulation development, motor-speech abilities, and selective attention and concentration; however, his language and psychosocial development were within the broad range of normality. In contrast, GV exhibited severe dysfunction in speech, language, and perceptual/conceptual development. The three children with MMA also exhibited a range of disabilities in cognitive functioning. TJ and SH contrasted in the degree of developmental delay across language and cognitive domains. Both were distractible and exhibited very short attention spans but there was a measurable difference in the extent of their speech, language, visual-spatial development. CH was markedly delayed in all areas of cognitive development, which is consistent with global retardation. The severity of her disease and its probable impact on brain development were undoubtedly related to her intellectual impairment. These datasets illustrate the challenges we face, because within each group we see a range of impairment. Nevertheless, we are optimistic that our efforts to relate metabolic, anatomic and neuropsychologic findings for such children will lead to a better understanding of these disorders. We are hopeful that this will result in new advances in diagnosis and intervention, which will ultimately improve the prognosis for cognitive development. In summary, a multidisciplinary center has been established at UCSD to study the neurologic basis of disorders of language, learning and behavior in infants and children. The center draws together a group of researchers from many fields including neurology, biochemistry, pediatrics, cognitive and developmental neuropsychology, psycholinguistics, neurophysiology and communicative disorders. Because of the diverse interests and expertise of our group, it is hoped to forge a synthesis of the behavioral and neurosciences to study populations of children with a variety of neurologic, metabolic, and language/learning disorders. Disorders currently under study include Lesch-Nyhan disease, oculocutaneous tyrosinemia, propionic acidemia, carnitine palmityl transferase deficiency, Schwachman-Diamond syndrome, histidinemia, Hartnup disease, citrullinemia, galactosemia, maple syrup urine disease, and methylmalonic acidemia.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗
PubMed2003

A delayed increase in hippocampal proliferation following global asphyxia in the neonatal rat.

Adult neurogenesis has been shown to be upregulated following a wide variety of brain injury paradigms. During the first weeks of postnatal life there is around 50 fold more neurogenesis occurring than in the adult CNS, yet little is known regarding the effect of neonatal brain injury on this developmental proliferation. We have investigated the effect of a global perinatal birth asphyxia on postnatal proliferation at 2, 5, 8, 11, 15, 21 and 28 days after birth (injury) using a 3H-thymidine tracer study. We found a specific upregulation of proliferation at 5 days after the injury within the injured hippocampus only, with an associated increase in hippocampal mass and without any changes in GFAP content at any timepoint. Perinatal asphyxia did not alter proliferation within the cerebellum, sub ventricular zone, olfactory bulb, cervical or thoracic spinal cord. Similarly, no changes in corticosterone levels were induced by the injury. Since there were no changes in GFAP content we hypothesize that this increased proliferation is likely neurogenetic, similar to what is seen in the adult brain following injury. Further we show that the dramatic increase in corticosterone at the end of the stress hyporesponsive period is not responsible for the equally dramatic decrease in postnatal proliferation within the CNS.

Animals↗
PubMed2005

Arabidopsis ARP7 is an essential actin-related protein required for normal embryogenesis, plant architecture, and floral organ abscission.

The actin-related proteins (ARPs) that are localized to the nucleus are present as components of various chromatin-modifying complexes involved in chromatin dynamics and transcriptional regulation. Arabidopsis (Arabidopsis thaliana) ARP7 is a constitutively expressed nuclear protein belonging to a novel plant-specific ARP class. In this study, we demonstrate a vital role for ARP7 protein in embryogenesis and plant development. Knocking out the expression of ARP7 in an arp7-1 T-DNA mutant produced morphologically aberrant, homozygous embryos that were arrested at or before the torpedo stage of development. Hence, the arp7-1 null mutation is homozygous lethal. Knocking down the expression levels of ARP7 protein with RNA interference produced viable Arabidopsis lines affected in multiple developmental pathways and induced dosage-dependent, heritable defects in plant architecture. The transgenic plants containing greatly reduced levels of ARP7 in the nucleus were severely dwarfed with small rosette leaves that are defective in cell expansion and trichome morphology. Moreover, the ARP7-deficient RNA interference plants exhibited retarded root growth, altered flower development, delayed perianth abscission, and reduced fertility. These pleiotropic phenotypic changes suggest a critical role for the Arabidopsis ARP7 protein in the regulation of various phases of plant development through chromatin-mediated, global regulation of gene expression.

Actins↗
PubMed1998

Transient global forebrain ischemia induces a prolonged expression of the caspase-3 mRNA in rat hippocampal CA1 pyramidal neurons.

The authors recently cloned a cDNA for an ICE/CED3-related cysteine protease from rat brain, which is closely related to human CPP32 (now designated caspase-3). In situ hybridization histochemistry revealed a profound developmental regulation of the caspase-3 transcript in rat brain, with relatively high levels of caspase-3 mRNA observed in neurons of the fetal and neonatal brain and low levels of mRNA in neurons of the adult brain. The authors report that transient forebrain ischemia, which results in a delayed apoptotic death of CA1 pyramidal neurons, results in prolonged expression of caspase-3 mRNA in these same pyramidal neurons. Up-regulation of caspase-3 mRNA in CA1 pyramidal neurons is prominent 24 hours after transient global ischemia, and expression is maintained at higher levels for at least 72 hours after ischemia. However, by 96 hours after ischemia, a marked decrease in caspase-3 mRNA expression is observed in CA1 pyramidal neurons, showing severe degenerative changes (e.g., nuclear condensation). By contrast, there is no change in the expression of a closely related member of caspase family, caspase-2, in CA1 pyramidal neurons after global ischemia. Instead, caspase-2 mRNA is induced in lamina layers of cerebral cortex 24 hours after the ischemia. A selective and prolonged induction of the caspase-3 gene in committed CA1 pyramidal neurons suggests that transcriptional activation of this caspase-3 gene may be involved in the apoptotic cell death cascade of CA1 neurons after transient global ischemia.

Animals↗
PubMed2002

Dorsal and ventral stream sensitivity in normal development and hemiplegia.

Form and motion coherence thresholds can provide comparable measures of global visual processing in the ventral and dorsal streams respectively. Normal development of thresholds was tested in 360 normally developing children aged 4-11 and in normal adults. The two tasks showed similar developmental trends, with some greater variability and a slight delay in motion coherence compared to form coherence performance, in reaching adult levels. To examine the proposal of dorsal stream vulnerability related to specific developmental disorders, we compared 24 children with hemiplegic cerebral palsy with the normally developing group. Hemiplegic children performed significantly worse than controls on the motion coherence task for their age, but not on the form coherence task; however, within this group no specific brain area was significantly associated with poor motion compared to form coherence performance. These results suggest that extrastriate mechanisms mediating these thresholds normally develop in parallel, but that the dorsal stream has a greater, general vulnerability to early neurological impairment.

Adult↗
PubMedDate not supplied

[Central nervous system changes in infants with HIV infection. Epidemiology and neurology].

The increase of HIV infected population reaching worldwide 10 million of cases leads to a great number of infected women in reproductive age. Finally the perinatally acquired HIV infection has become a great problem. The number of infants with AIDS is estimated at about 160,000. The diagnosis and evaluation of significant clinical symptoms of HIV infection in infants are briefly described in this study. The nervous system being one of targets of HIV infection the neurological manifestation occurring in infants were more extensively discussed. Microencephaly or brain atrophy and psycho-motor developmental delay resulting in progressive or static encephalopathy syndromes were presented.

Acquired Immunodeficiency Syndrome↗
PubMed2006

Maturation of luminance- and motion-defined form perception beyond adolescence: a combined ERP and fMRI study.

Abilities to discriminate forms defined by motion continue to develop throughout childhood. To investigate late development of the visual motion system, we measured brain activity with event-related EEG potentials (ERPs) and functional magnetic resonance imaging (fMRI) in groups of adolescents (15-17 years) and adults (20-30 years) during a visual form discrimination task--with forms being either defined by motion or luminance contrast. We further explored whether possible developmental changes varied with the degree of motion coherence reflecting maturation specific to global motion processing. Both the fMRI activation patterns and ERP topographies were very similar between adolescents and adults, suggesting that the basic visual networks for processing motion and form are established by the age of 15-17. The ERP response to luminance- and motion-defined forms was dominated by a posterior negativity (N1: 120-270 ms). The N1 of the motion contrast was delayed in adolescents, whereas the N1 of the static condition did not differ between groups. Since the motion-evoked N1 is thought to arise in the middle temporal area MT/V5, our results indicate that visual motion processing in MT continues to get faster, becoming still more efficient during late development. Neither the ERP nor the fMRI results revealed maturation effects specific to motion coherence. This indicates that the specific mechanisms to process global dot motion are already mature in adolescence. The present findings support the view that static perception matures earlier than dynamic perception, and that these visual systems have different developmental courses.

Adolescent↗
PubMed2003

Interstitial deletion on chromosome 5q33.3q35.1 in a 6-year-old girl -- neuropsychological findings and follow-up in an extremely rare chromosomal aberration.

Interstitial deletion on chromosome 5q33.3q35.1 is an extremely rare chromosomal aberration for which a characteristic syndrome could not yet be delineated. In most patients with 5q deletions severe mental retardation is described. Recently, Spranger et al. (2000) described the case of a 4-year-old girl with a de novo deletion on 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. The patient was admitted for outpatient neuropsychological assessment when she was 6.2 years old. Neurocognitive tests revealed an overall developmental delay of about 32 months and an intelligence score in the range of mild mental retardation. Her cognitive phenotype was characterized by a considerable visual-spatial deficit in the form of disorganized drawings or block designs indicating a profound lack of cohesion and overall global organization (decay of gestalt). The patient's behavioral phenotype was dominated by a distinct disinhibition syndrome demonstrating severe hyperactivity, utilization behavior, and aggressive behavior.

Child↗