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 1,189 records · Page 66Linked to original sources
PubMed1992

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.

We describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases with larger deletions including 2q37.2-->qter have been reported. Clinical manifestations our patient has in common with them include frontal bossing, long eyelashes, micrognathia, infantile hypotonia and developmental delay. His twin brother is physically and developmentally normal and chromosomes of the parents were normal. The mildness of the phenotype in this patient supports less stringent criteria for cytogenetic study of developmentally impaired individuals.

Adult↗
PubMed1995

MRI in cerebral developmental malformations and epilepsy.

Cerebral developmental malformations are increasingly recognized as a major cause of developmental delay and epilepsy. The incidence of these developmental malformations in patients with epilepsy is not known, but epilepsy surgery data suggest that this pathology is commonly seen in children who undergo epilepsy surgery for intractable epilepsy. These malformations can be diagnosed by a combination of clinical, neurophysiological, and imaging techniques. However, imaging techniques such as MRI have been able to provide in vivo recognition of many of these malformations and have contributed to the recognition of specific syndromes. These malformations can be classified on an anatomical basis either into diffuse, unilateral, or generalized. However, a combination of imaging data in conjunction with genetics and embryology may be more appropriate in the future. Further technical developments promise to increase the sensitivity of MRI in detecting these malformations and may help to delineate the possible biology of these disorders.

Brain↗
PubMed2004

Differential diagnosis and management of neonatal hypoglycemia.

Persistent hypoglycemia in the neonate is most often caused by hyperinsulinemia. Recent discoveries in the molecular and biochemical regulation of insulin secretion have increased dramatically our understanding of disorders responsible for syndromes of hyperinsulinemic hypoglycemia. This article focuses on defects and disorders of the KATP channel, activating mutation of glucokinase and glutamate dehydrogenase, and other disorders that may be associated with specific phenotypes to permit appropriate targeted therapies. It is essential to evaluate these entities carefully because of the emerging evidence that at least half, if not more, have focal disease, which can be cured by local excision rather than diffuse disease, which may not be cured even after near total pancreatectomy with risk for future diabetes. Delay in diagnosis may be associated with developmental delay. The mechanisms of hypoglycemia remain incompletely understood.

Diagnosis, Differential↗
PubMedDate not supplied

Use of the Bayley Infant Neurodevelopmental Screener with an environmental risk group.

OBJECTIVE: To determine predictive validity of the Bayley Infant Neurodevelopmental Screener (BINS) during the first 2 years of life with a group of children at risk for developmental delay due to environmental risk factors. METHOD: The setting consisted of home visits to participants. The BINS was administered to 106 children, ages 6 and 13 months, of low-income, African American, adolescent mothers. Three risk groups were identified: low, moderate, and high. The Bayley Scales of Infant Development, second edition (BSID-II), were administered at 24 months and served as the criterion standard. A cut score of 85 (1.00 SD below mean) represented a clinically meaningful indicator of delayed development on the mental and psychomotor developmental indices, as well as a composite of these indices. Two other cut scores on the BSID-II were also included for comparison: 90 (0.75 SD below mean) and 77 (1.50 SD below mean). RESULTS: Using BSID-II scores at 24 months as the criterion measure, 6- and 13-month BINS scores yielded low sensitivity values but high specificity values, regardless of how BINS risk groups were defined and which cut points on the BSID-II were used. Positive predictive value was higher when the cut score was set below 90 than when it was set below 85. CONCLUSIONS: Low predictive validity of the BINS with an environmental risk group highlights the difficulties inherent in developmental screening among infants who have environmental, but not biological, risk factors. Because infants at environmental risk tend to experience developmental declines after infancy, it may be beneficial for primary care providers to use psychosocial screening tools to identify which children need closer monitoring and referral to enrichment programs to prevent developmental declines during toddlerhood.

Developmental Disabilities↗
PubMed1989

Enuresis in child psychiatric clinic patients.

The clinical profile and the outcome of 386 enuretic children attending a child psychiatric clinic were studied and compared with 2,404 other child psychiatric cases assessed during the same period. The profiles of developmental and family history, psychiatric diagnoses, specific delays in development at assessment, and intelligence resembled each other. The only exceptions were an overrepresentation of delayed developmental milestones in the history and an underrepresentation of neuroses and eating disorders among enuretics.

Adolescent↗
PubMed1998

Acro-renal-ocular syndrome: expansion of the phenotype.

We report the sixth described family with acro-renal-ocular syndrome in a boy and more mildy in his mother. Severe upper limb deficiency, dysplastic kidneys, and strabismus are noted in this child in addition to developmental delay, dysplastic corpus callosum, and incomplete myelination. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an expansion of the phenotype.

Abnormalities, Multiple↗
PubMed2025

Significance of GNAS mutations for morbid obesity in children.

BACKGROUND: Hereditary forms of obesity are characterized by early severe heterogeneous manifestations of the phenotype along with a rapid progression to morbid obesity, primary due to pathogenic variants of certain genes. Most forms are characterized by moderate to severe neuropsychic developmental delays, dysmorphic features and organ-specific developmental anomalies. RESULT: We searched for hereditary causes of morbid obesity in children by exome sequencing. As a result, we have identified 5 variants in the GNAS locus, two of which were identified for the first time: NM_000516.7(GNAS):c.201del, (p.Phe68Leufs*32) and NM_000516.7(GNAS):c.586 - 18_591del. Children showed tolerance to parathyroid hormone and thyroid-stimulating hormone. It has been observed that almost all the children with frameshift variants or nonsense mutations presented with subcutaneous ossifications. CONCLUSIONS: The search for variants in a group of patients with morbid obesity, as conducted in our research, reaffirms the need for use molecular genetic testing to determine the main diagnosis and facilitate early detection of the disease. This is particularly relevant given the wide clinical variability of monogenic forms of obesity.

Humans↗
PubMed2006

The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism.

Causes and contributing factors for autism are poorly understood. Evidence suggests that prevalence is rising, but the extent to which diagnostic changes and improvements in ascertainment contribute to this increase is unclear. Both genetic and environmental factors are likely to contribute etiologically. Evidence from twin, family, and genetic studies supports a role for an inherited predisposition to the development of autism. Nonetheless, clinical, neuroanatomic, neurophysiologic, and epidemiologic studies suggest that gene penetrance and expression may be influenced, in some cases strongly, by the prenatal and early postnatal environmental milieu. Sporadic studies link autism to xenobiotic chemicals and/or viruses, but few methodologically rigorous investigations have been undertaken. In light of major gaps in understanding of autism, a large case-control investigation of underlying environmental and genetic causes for autism and triggers of regression has been launched. The CHARGE (Childhood Autism Risks from Genetics and Environment) study will address a wide spectrum of chemical and biologic exposures, susceptibility factors, and their interactions. Phenotypic variation among children with autism will be explored, as will similarities and differences with developmental delay. The CHARGE study infrastructure includes detailed developmental assessments, medical information, questionnaire data, and biologic specimens. The CHARGE study is linked to University of California-Davis Center for Children's Environmental Health laboratories in immunology, xenobiotic measurement, cell signaling, genomics, and proteomics. The goals, study design, and data collection protocols are described, as well as preliminary demographic data on study participants and on diagnoses of those recruited through the California Department of Developmental Services Regional Center System.

Adult↗
PubMed1995

Fetal aqueductal stenosis diagnosed sonographically: how grave is the prognosis?

OBJECTIVE: Aqueductal stenosis is a common cause of fetal hydrocephalus. Published studies of neonates with aqueductal stenosis have noted variable outcomes, with normal development seen in 24-86% of cases. In an attempt to better assess long-term outcomes in cases diagnosed in utero and to determine what prenatal sonographic findings might be used to predict prognosis, a retrospective analysis of patients with aqueductal stenosis was done. MATERIALS AND METHODS: Fifty-three consecutive cases of aqueductal stenosis discovered in utero at two high-risk obstetrical centers in Seattle between 1980 and 1993 were studied. Parents elected to continue pregnancy in 39 of these cases. Two months to 10 years of long-term follow-up was available in 30 patients, who form our study group. Prenatal sonograms, postnatal cranial ultrasound, and head CT and MR were evaluated. Prenatal sonographic data collected included the biparietal diameter, size of the lateral and third ventricles, the ratio of the two, and thickness of the frontoparietal cortical mantle. Medical records provided an assessment of development based on physical examination, meeting of major milestones, and neuropsychological testing. The in utero diagnosis of aqueductal stenosis was confirmed by postnatal CT, MR imaging, sonography, or autopsy. RESULTS: Within the study group of 30 patients, eight died in the postnatal period and four died subsequently. Of the 22 patients with adequate postnatal follow-up, moderate or severe developmental delay was present in 16 (73%). Normal developmental milestones were met in only three (10%) of all 30 patients and in 14% of those surviving the neonatal period. Although size of the lateral and third ventricles was not a useful predictor of long-term prognosis, the ratio of the two, as well as thickness of the frontoparietal cortical mantle, was weakly associated with long-term prognosis. No correlation was found between biparietal diameter and outcome. CONCLUSION: As compared with previous reports, prenatal diagnosis of aqueductal stenosis carries a grave prognosis. Twelve of the 30 patients died, for an overall mortality of 40%. Normal development was seen in only 10%, significantly less than in prior studies.

Cerebral Aqueduct↗
PubMed2006

Guiding parents through behavioral issues affecting their child's health: the primary care provider's role.

This short review was presented as part of the Morehouse School of Medicine Fifth Annual Primary Care Conference in October 2005. As child health morbidities and mortalities shift from infectious diseases, child healthcare providers must become more vigilant and aggressive at suspecting, screening for, and intervening in behavioral and developmental problems in early childhood. There is growing evidence about the link between early childhood developmental problems and severe dysfunctions in adulthood, including violence and crime. We must identify families that are at high risk of having behavioral and developmental problems. We must screen for developmental delays at health maintenance visits and use developmental surveillance on other office visits. We must also use the time in anticipatory guidance to help families to understand age-appropriate behaviors and how those behaviors can be modified. If appropriate, referrals must be made to Early Intervention, private therapists, or doctorate level professionals (developmental-behavioral pediatricians, child psychiatrists, or child psychologists).

Child↗
PubMed2007

Early iron deficiency alters sensorimotor development and brain monoamines in rats.

Iron deficiency in human infancy reportedly leads to developmental delays and changes in neurobiology that may be irreversible. Using a rodent model, the present study examined whether dietary iron deficiency late in pregnancy and during lactation alters sensorimotor development and brain monoaminergic systems. Rats were assigned to 1 of 4 dietary treatments during gestation and lactation: 1) iron sufficient control; 2) prenatal iron deficiency beginning on gestational d 15 (G15); 3) postnatal iron deficiency beginning on postnatal d 4 (P4); 4) iron deficiency beginning on G15 followed by an iron sufficient diet on P4. Developmental milestones, open field behavior, brain iron and proteins, monoamines, and their transporters were evaluated between P6 and P21. Only G15 iron deficient rats had greater dopaminergic activity than controls as indicated by increased tyrosine hydroxylase levels, phosphorylated tyrosine hydroxylase levels, and cellular dopamine in prefrontal cortex and striatum at P15. These rats also showed delayed eye opening, ear development, and reduced locomotor activity. Iron repletion at P4 returned most measures to control levels by the time of weaning. Postnatal iron deficiency reduced striatal and ventral midbrain iron as well as cellular dopamine levels in prefrontal cortex and striatum at P21. Developmental delays in ear development and achievement in bar holding and surface righting also resulted from postnatal iron deficiency. These results indicate that iron deficiency begun at G15 affects early dopamine neurobiology, the development of specific developmental milestones, and behavior in preweaned rats.

Aging↗
PubMed2003

Clinical spectrum associated with cerebellar hypoplasia.

We reviewed 45 children with cerebellar hypoplasia on magnetic resonance imaging to identify clinical features associated with cerebellar hypoplasia. We then studied children presenting with any likely associated clinical feature of cerebellar hypoplasia previously observed or reported. Two hundred fifty-one children, with one or more of these features, exhibited no cerebellar hypoplasia on imaging. We compared the children with cerebellar hypoplasia with those without cerebellar hypoplasia. Logistic regression and Pearson's chi(2) test were used. Of the 45 children with cerebellar hypoplasia, 39 exhibited developmental delay; 24, speech delay; 25, seizures; nine, microcephaly; 22, hypotonia; 22, ataxia and impaired coordination; four, abnormal movements (tremor or titubation); 13, hypertonia; eight, autistic features; and 18, ocular signs (nystagmus, strabismus, and abnormal ocular movements). Statistically significant clinical features of children with cerebellar hypoplasia compared with those without were development and speech delay, microcephaly, abnormal movements, ataxia and impaired coordination, autistic features, hypotonia, and ocular signs. The regression combination of speech delay, ataxia, hypotonia, autistic features, and ocular signs correctly predicted 86% of those with cerebellar hypoplasia. Main clinical features of cerebellar hypoplasia are developmental or speech delay, autistic features, ataxia, hypotonia, and ocular signs.

Cerebellar Diseases↗
PubMed2026

Intellectual disability, neuroregression and adult-onset progressive dystonia due to a DLG4 pathogenic variant.

We report a 34-year-old male with childhood developmental delay, severe intellectual disability in adulthood, episodes of agitation with a previous diagnosis of schizoaffective disorder and adult-onset cognitive regression who developed progressive generalised dystonia due to a de novo DLG4 pathogenic loss-of-function variant. This case expands the phenotypic spectrum of recognised movement disorder manifestations associated with DLG4-related synaptopathy.

Humans↗
PubMed2026

Expanding the Clinical Spectrum of DHX30-Related Neurodevelopmental Disorder: A Case Report and a Scoping Review.

BACKGROUND: Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30-related NDD (DHX30-NDD) is a recently described condition with an evolving phenotypic spectrum. OBJECTIVES: To expand the understanding of the DHX30-NDD genotype-phenotype spectrum by integrating a case-based WES interpretation with a scoping review. METHODS: We performed comprehensive genetic analysis (karyotyping, microarray, WES) on a proband with global developmental delay (GDD). A systematic literature search of PubMed/MEDLINE, Scopus and Google Scholar from database inception to April 2026 identified 10 publications including 51 individuals with DHX30-NDD. Clinical and genetic data were extracted to characterize the genotype-phenotype spectrum. RESULTS: The proband presented with GDD and right microtia, harbouring a de novo heterozygous pathogenic DHX30 missense variant (c.1478G > A; p.Arg493His), confirming DHX30-NDD. To our knowledge, this is the first reported individual with DHX30-NDD and microtia. The scoping review confirmed DHX30 variants are formed predominantly de novo and affected both sexes (22 males; 29 females). Hallmark manifestations were motor delay (50/51; 98.0%), GDD/ID (48/49; 98.0%), hypotonia (48/51; 94.1%), feeding difficulties (38/51; 74.5%), ataxia (17/23; 73.9%), abnormal brain imaging (36/49; 73.5%) and absent expressive language (35/48; 72.9%). Digital anomalies (31/51; 60.8%), eye anomalies (28/51; 54.9%), autistic behaviours (24/44; 54.5%), sleep disturbances (26/51; 51.0%), joint hypermobility (25/51; 49.0%), microcephaly (23/51; 45.1%) and ear anomalies (22/51; 43.1%) were also frequent. CONCLUSIONS: This study potentially expands the phenotypic spectrum of DHX30-NDD, highlights the clinical utility of WES for diagnosing GDD and underscores the importance of ongoing WES reanalysis for evolving variant interpretation.

DHX30↗
PubMed1990

Developmental, learning, and emotional problems. Health of our nation's children, United States, 1988.

The data presented in this report show that developmental, learning, and behavioral disorders are among the most prevalent chronic conditions of childhood and adolescence. Overall, nearly 20 percent of young people ages 3-17 years were found to have had one or more of these conditions. By the time they reached ages 12-17 years, 1 in 4 adolescents, and nearly 3 in 10 male adolescents, had experienced one of these disorders. When very young children with developmental delays were included, the total number of U.S. children affected came to about 10.7 million. As high as these figures may seem, it is altogether possible that they are underestimates of the true prevalence of the conditions. The only childhood disorders counted in NHIS-CH were those that had been recognized by parents or identified by physicians, psychologists, or teachers and communicated to parents with sufficient clarity that the parents were able to report them to survey interviewers. There is reason to believe that some developmental, learning, and emotional disorders of children are not recognized as such, or the assessment of teachers or health professionals are not understood or not accepted by parents. Confusion over changing diagnostic terminology and simple forgetting of problems that occurred in the past probably work to reduce the reporting of these conditions as well. Despite the limitations of parental reporting, it is useful to have data on the prevalence of psychological disorders in young people based on standard survey questions put to the parents of a large and nationally representative sample of children. Estimates derived from NHIS-CH provide national benchmarks on the overall frequency of recognized psychological disorders in children and on the relative frequency of such problems in different population groups. The findings with regard to overall prevalence were that 4.0 percent of all children 17 years of age and under had delays in growth or development, 6.5 percent of children ages 3-17 years had learning disabilities, and 13.4 percent had significant emotional or behavioral problems. The proportions of all children ages 3-17 years who had ever received treatment or counseling for the conditions were about 2 percent for developmental delays, just over 5 percent for learning disabilities, and more than 10 percent for emotional or behavioral problems. These proportions fall within the range of prevalence estimates that have appeared in the literature.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1998

Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.

A patient presenting with developmental delay but no episodes of metabolic acidosis was found to excrete significant amounts of methylmalonate (MMA) without any associated increased excretion of malonate, ethylmalonate, 3-hydroxypropionate, or beta-alanine. In contrast to patients with methylmalonic aciduria due to deficient mutase or impaired cobalamin metabolism, there was no increase of propionylcarnitine in blood or urine. The activity of methylmalonyl-CoA mutase and the pathway for cobalamin metabolism were also intact. The quantitative levels of the various labeled enantiomers of 3-hydroxyisobutyric (3-HIBA), 3-aminoisobutyric (3-AIBA), MMA, and propionylcarnitine were compared following separate intravenous infusions of equimolar doses of [2H8]-valine or [2H4]thymine in this patient and another with methylmalonyl-CoA mutase deficiency. Levels of labeled S- and R-3-HIBA and S- and R-3-AIBA indicated an isolated defect in methylmalonic semialdehyde dehydrogenase in this patient. This condition can be recognized by plasma MMA levels of approximately 8.5 microM (cf. 400 microM in mutase deficiency), urine MMA of 20-55 micromol/kg/24 h (cf. 1150 micromol/kg/24 h), no increase in propionylcarnitine following an oral carnitine load, and increased excretion of S-3-AIBA-nearly 10 times that observed in mutase deficiency. The ratio of R-AIBA to S-AIBA of <1 also reflects this disorder.

Aldehyde Oxidoreductases↗
PubMed2025

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

PURPOSE: The genetic etiology of infertility remains unknown. To identify genes for human infertility, we applied a de novo variant analysis in 142 parent-proband trios with idiopathic hypogonadotropic hypogonadism (IHH), an infertility disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. METHODS: Rare de novo copy-number and single-nucleotide variants (CNVs and SNVs) were called from exome sequencing data of the IHH trios. An association study of common EMX2 variants and disease outcomes was performed in the Massachusetts General Brigham Biobank (N = 65,253). GnRH neuronal development and migration was studied in organotypic explants with knocked down of Emx2 and in a mouse model lacking Emx2. RESULTS: We identified that the gene EMX2 harbored both rare de novo CNVs and SNVs. Rare de novo EMX2 variants led to IHH, developmental delay, and hearing loss. Common EMX2 variants were linked to infertility, Parkinson disease, and hearing loss. Knockdown of Emx2 in nasal explants resulted in attenuated GnRH cell migration and GnRH cells were confined to nasal regions of Emx2 knockout (KO) mice, consistent with IHH pathogenesis. CONCLUSION: By utilizing a de novo variant analysis and cellular assays, EMX2 was uncovered as a gene for human infertility.

Humans↗
PubMed2025

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

BACKGROUND: Chromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation spectrum of 17p13.3 microdeletions ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome, while 17p13.3 microduplications result in autism, learning disabilities, microcephaly and other brain malformations. This study aims to provide a more comprehensive delineation of the clinical and genetic characteristics associated with 17p13.3 alterations. METHODS: We retrospectively analyzed the next-generation sequencing (NGS) data of more than 40 thousand patients from January 2016 to December 2021 and identified 38 pediatric patients with copy-number variations (CNVs) or single-nucleotide variations (SNVs) in 17p13.3 region. Published patients with CNVs in the 17p13.3 region were also collected and we performed a Chi-square test to compare the phenotype spectrum of microdeletions and microduplications. RESULTS: Among the 27 CNV patients, 20 patients with microdeletions and 7 patients with microduplications were found. PAFAH1B1 was the most frequently deleted gene and CRK was the most frequently duplicated gene. Affected genes in 11 SNV patients included PAFAH1B1 and PRPF8. Developmental delay was the most common abnormality detected in the 38 patients (29/38, 76.3%). Of note, Case 10 presented omphalocele and Case 23 presented scoliosis, webbed neck and bone cyst, all of which were unusual variant phenotypes in this region. The Chi-square test revealed that epilepsy, lissencephaly and short stature were statistically significant with microdeletions, while behavioral abnormalities and hand and foot abnormalities were significant with microduplications (p&#x2009;<&#x2009;0.01). CONCLUSIONS: While PAFAH1B1, YWHAE and CRK are associated with major phenotypes of 17p13.3, RTN4RL1 may be involved in white matter changes and HIC1 might contribute to the occurrence of omphalocele. This study provided a comprehensive understanding of genetic information and phenotype spectrum of the 17p13.3 region.

Humans↗