Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “developmental delay”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,639 records · Page 91Linked to original sources
PubMed2003

A1 adenosine receptors mediate hypoxia-induced ventriculomegaly.

Periventricular leukomalacia is characterized by a reduction in brain matter and secondary ventriculomegaly and is a major cause of developmental delay and cerebral palsy in prematurely born infants. Currently, our understanding of the pathogenesis of this condition is limited. In animal models, features of periventricular leukomalacia can be induced by hypoxia and activation of A1 adenosine receptors (A1ARs). Using mice that are deficient in the A1AR gene (A1AR-/-), we show that A1ARs play a prominent role in the development of hypoxia-induced ventriculomegaly in neonates. Supporting a role for adenosine in the pathogenesis of developmental brain injury, ventriculomegaly was also observed in mice lacking the enzyme adenosine deaminase, which degrades adenosine. Thus, adenosine acting on A1ARs appears to mediate hypoxia-induced brain injury ventriculomegaly during early postnatal development.

Animals↗
PubMed2006

Review of three tests of motor proficiency in children.

The present purpose is to provide clinicians, occupational and physical therapists, and educators with a comparative analysis of three tests of motor proficiency. The Bruininks-Oseretsky Test of Motor Proficiency, Movement Assessment Battery for Children, and Tufts Assessment of Motor Performance were developed to assess the motor skills of children with developmental delays. The selection criteria, interrater reliability, reproducibility, and recommended use of each test are reported here. Recommendations for use of each test include standardization of the sample population to ensure its appropriateness.

Adolescent↗
PubMed1990

[Alzheimer's neurofibrillary tangles in a 52-year-old patient with severe brain damage].

A woman, who had been developmentally delayed since her birth, further deteriorated after she got an episode of high fever of unknown origin at 2 years of age. At the age of 52 years, she died of liver cancer after a long-standing HB virus carrier state. Neuropathological examination revealed brain atrophy, narrowed white matter, myelin pallor, fibrillary gliosis and status marmoratus of the thalamus. These findings suggested the primary cause of the brain pathology in this case to be a developmental destructive process which should have taken place in the early stage of brain development. In addition, neurofibrillary tangles (NFT) were noticed in the hippocampus, locus ceruleus and nucleus basalis of Meynert, but no senile plaques were found anywhere. These NFT changes seemed to be closely resembling to those of the Fukuyama type congenital muscular dystrophy. But the reason why NFT occur in this case is still obscure and probably different from that in the Down syndrome or in physiological senility.

Brain↗
PubMed1995

Outcome of children with opsoclonus-myoclonus regardless of etiology.

Within the past 11 years, 11 patients with opsoclonus and myoclonus, with or without a history of neuroblastoma, have been admitted to Children's Memorial Hospital. Eight of the 11 children had an occult neuroblastoma. Eight children have had subsequent delayed development with motor incoordination and speech delay (7 with neuroblastoma, 1 without). Nine of 11 children initially were treated with ACTH, 1 child was treated with prednisone, and 1 was not treated. Nine of the 10 children who were treated had recurrences of symptoms during the gradual withdrawal or discontinuation of ACTH. Often the ACTH had to be restarted or increased, although several times the episodes were self-limited, not requiring treatment after ACTH was withdrawn. We found prednisone was ineffective in controlling opsoclonus-myoclonus regardless of etiology. The majority of children with opsoclonus-myoclonus, regardless of etiology, have developmental delay, more severe and at a higher rate than previously reported. When a neuroblastoma was present, tumor removal did not improve symptoms. Although limited in size, our study indicates patients with opsoclonus-myoclonus without an associated neuroblastoma have a better chance for normal neurologic development (2/3 versus 1/8).

Adrenocorticotropic Hormone↗
PubMed2004

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12).

We report the clinical, cytogenetic, and molecular findings in a family in which a t(Y;15)(p11.2;q12) is segregating. The Y chromosome breakpoint disrupts the DYZ5 sequence containing the TSPY genes that are exclusively expressed in the testes while the chromosome 15 breakpoint is within the GABRG3 gene. The father and his son who both carried the balanced form of the translocation are clinically normal. A daughter who carried the der Y had the clinical features of Prader-Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism. The relationship of the translocation to the clinical phenotypes is discussed.

Adolescent↗
PubMed1990

Ischaemic brain lesions diagnosed at birth in preterm infants: clinical events and developmental outcome.

In 232 newborn babies of less than 32 weeks' gestational age ultrasound brain scans were carried out shortly after birth, daily for the first week of life, and at least twice weekly thereafter. Periventricular echogenicity associated with or progressing to periventricular leukomalacia (ischaemic brain lesions) was present in nine babies within two hours of birth (early onset); 30 other babies subsequently developed similar lesions (late onset). Babies with early onset lesions were more likely to have a history of intrauterine growth retardation and to have recurrent apnoea in the first few hours after birth. By contrast, late onset lesions were associated with hyaline membrane disease. In later childhood four of six survivors with early onset periventricular leukomalacia, and seven of 14 survivors with late onset periventricular leukomalacia, had various disabilities including spastic diplegia, impaired vision, squints, sensorineural hearing loss, and developmental delay. In a third of the children with disabilities ischaemic brain lesions were noted within two hours of birth, raising the possibility that some of this damage had taken place before or during birth.

Brain↗
PubMed1992

Adolescent pregnancy and early intervention programs benefit from case management.

Case Management methods are being adapted to effectively serve two vulnerable populations: pregnant and parenting adolescents, and infants and toddlers with disabilities of developmental delay and their families. This article describes the case management model developed by California's Adolescent Family Life program and discusses issues related to providing family-centered, community-based case management in early intervention programs.

Adolescent↗
PubMed2000

Aggressive behavior in patients with Sotos syndrome.

Sotos syndrome is characterized by peculiar facies, prenatal and postnatal overgrowth, and developmental delay. The course of six patients with psychiatric, neurologic, and magnetic resonance imaging evaluations is reported. Three (50%) of the six patients were observed to have a tendency toward aggressiveness, including one who had pyromania.

Aggression↗
PubMed2006

Unilateral reverse ocular bobbing caused by tuberous sclerosis.

A female aged 12 months with developmental delay and left-sided reverse ocular bobbing (rapid deviation of the eye upward and a slow return to the horizontal position) was observed. At birth, an upper left gingival mass, pathologically diagnosed as a benign granular cell tumour, was removed. On computed tomography (CT), left middle cerebral pedincular and midpontine lesions were seen. Magnetic resonance imaging revealed additional white matter hamartomas, corticosubcortical tubers, and subependymal nodules. The patient was re-examined at 36 months. Her general developmental quotient was equivalent to 23 months of age. Third cranial nerve functions and auditory brainstem response were normal. Her abnormal eye movements were still present. Reverse bobbing is usually observed in patients who are unconscious and who have significant pontine pathology and disruption of the reticular formation. This case is the first tuberous sclerosis-related ocular bobbing case to our knowledge and is interesting as the causative lesion was relatively mild, and ocular horizontal movements were preserved.

Brain Stem↗
PubMed1994

Marfan and cri du chat syndromes in an 18-month-old child: evidence of phenotype interaction.

We report on an 18-month-old girl who has both the cri du chat and Marfan syndromes. She was born at term to a 29-year-old woman with the clinical diagnosis of Marfan syndrome. An evaluation for developmental delay at 2 months of age showed a karyotype of 46,XX,del(5)(15.1), consistent with cri du chat syndrome. At age 18 months she was tall (90 cm, > 95th centile), with an decreased upper segment:lower segment ratio (1.0), and microcephalic (OFC 42.5 cm, < 5th centile). Facial features were typical of cri du chat syndrome. The palm, middle finger and foot lengths were at or above the 95th centile for age. She was hypotonic, and her developmental level was approximately 8-10 months. Echocardiography showed redundant mitral valve tissue, mild mitral insufficiency, dilated aortic sinuses, and a small muscular VSD. We would have anticipated that a patient with an autosomal deletion who also had Marfan syndrome would have had growth failure. However, in this patient the skeletal features of Marfan syndrome (increased body length, decreased upper segment:lower segment ratio, and increased palm, finger, and foot length) predominate.

Chromosome Deletion↗
PubMed2003

Unilateral schizencephaly and contralateral polymicrogyria associated with umbilical cord mass.

We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfusion to the early developing brain, resulting in bilateral lesions.

Brain Diseases↗
PubMed2002

Prognostic value of positron emission tomography in cryptogenic West syndrome.

The relationship between positron emission tomography (PET) findings and developmental or seizure outcome was examined in 17 infants (11 males, six females; mean age at onset of spasms 7 months, range 3 to 26 months) with newly diagnosed cryptogenic West syndrome. The predictive value of PET in these infants was assessed. PET was performed in the infants at the onset of spasms and 3 months after initial therapy using 18F-labelled 2-deoxy-2-fluoro-D-glucose. A third PET was performed at 18 months of age if the second scan was abnormal. All infants were followed up until at least 3 years of age. Cortical hypometabolism was detected in 11 infants on the first PET and in five infants on the second. Rate of developmental delay at the last follow-up was significantly higher in infants with hypometabolism on the second PET than in those without PET abnormalities (p<0.05). Rate of seizure occurrence after initial treatment was higher in infants with cortical hypometabolism on the second PET, but the difference was not statistically significant. Results suggest that when PET after the initial treatment shows no abnormalities, even though the first PET shows hypometabolism, infants with cryptogenic West syndrome may have a favourable developmental or seizure outcome. PET may be a useful tool in evaluating the prognosis in infants with cryptogenic West syndrome.

Cerebral Cortex↗
PubMed2007

Surgical treatment of epilepsy in Sturge-Weber syndrome in children.

OBJECT: The authors sought to analyze the success rate of surgery in the management of medically intractable epilepsy in children with Sturge-Weber syndrome and to determine whether the extent and timing of surgery affected seizure and developmental outcomes. METHODS: The authors performed a retrospective review of 27 children who underwent surgery at their institution for medically resistant epilepsy, and they examined the outcomes with regard to epilepsy control and neuropsychological development. Seventeen children (63%) experienced onset of their epilepsy when they were younger than 1 year of age. These patients were significantly more likely to have hemiparesis (p < or =0.001) and status epilepticus (p < or = 0.001) and be developmentally delayed (p < or = 0.025) than children whose epilepsy started later in life. Eight patients underwent a hemispherectomy (either anatomical or functional), and complete resolution of epilepsy was noted in all. Of the 19 patients in whom a focal resection was performed, 11 (58%) became seizure free. The 10 children in whom there was residual disease were more likely to have continuing epilepsy than the nine whose lesions were completely excised (p< or = 0.05). Seventeen children exhibited improvement in their developmental status following surgery. This improvement was significantly affected by completeness of resection (p< or = 0.05) and age at surgery (p< or = 0.009). Seizure freedom per se was not affected by the timing of surgery. CONCLUSIONS: Medically intractable epilepsy in children can be treated effectively by surgery. The degree of resection or disconnection of diseased tissue, but not patient age at the time of surgery, is an important factor in achieving epilepsy control. Early surgery is more likely to improve developmental outcome.

Adolescent↗
PubMed2002

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies.

We report on a prenatally diagnosed four-month-old boy with DiGeorge-like phenotype and a deletion of chromosome 10pter --> 14. Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (VSD), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay. The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion.

Abnormalities, Multiple↗
PubMed1987

Sialuria: a second case.

A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.

Child, Preschool↗
PubMed2005

Maternal uniparental disomy chromosome 14: case report and literature review.

Uniparental disomy is a genetic cause of disease implicated in a wide variety of neurologic disorders. A recently identified condition is maternal uniparental disomy for chromosome 14 (mUPD14) syndrome. A child with hypotonia and developmental delay was found to have mUPD14 after identification of a balanced karyotypic rearrangement involving both chromosomes 14. We explore the genetic mechanisms by which uniparental disomy can cause clinical abnormalities and karyotypic findings that should raise suspicion for uniparental disomy, review the literature on the mUPD14, and discuss clinical indications on which to suspect this diagnosis. Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in mUPD14 syndrome: in utero growth restriction, congenital hypotonia, gross motor delay, arrested hydrocephalus, mild to moderate mental retardation, joint hyperextensibility, short stature, and precocious puberty. Testing for mUPD14 should be considered in infants with generalized hypotonia who have a history of in utero growth restriction.

Chromosomes, Human, Pair 14↗
PubMed2005

Transcription factor interactions and chromatin modifications associated with p53-mediated, developmental repression of the alpha-fetoprotein gene.

We performed chromatin immunoprecipitation (ChIP) analyses of developmentally staged solid tissues isolated from wild-type and p53-null mice to determine specific histone N-terminal modifications, histone-modifying proteins, and transcription factor interactions at the developmental repressor region (-850) and core promoter of the hepatic tumor marker alpha-fetoprotein (AFP) gene. Both repression of AFP during liver development and silencing in the brain, where AFP is never expressed, are associated with dimethylation of histone H3 lysine 9 (DiMetH3K9) and the presence of heterochromatin protein 1 (HP1). These heterochromatic markers remain localized to AFP during developmental repression but spread to the upstream albumin gene during silencing. Developmentally regulated decreases in levels of acetylated H3 (AcH3K9) and H4 (AcH4) and of di- and trimethylated H3K4 (DiMetH3K4 and TriMetH3K4) occur at both the core promoter and distal repressor regions of AFP. Hepatic expression of AFP correlates with FoxA interaction at the repressor region and the binding of RNA polymerase II and TATA-binding protein to the core promoter. p53 acts as a developmental repressor of AFP in the liver by binding to chromatin, excluding FoxA interaction and targeting mSin3A/HDAC1 to the distal repressor region. p53-null mice exhibit developmentally delayed AFP repression, concomitant with acetylation of H3K9, methylation of H3K4, and loss of DiMetH3K9, mSin3A/HDAC1, and HP1 interactions.

Acetylation↗