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PubMed2005

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (K(ATP)) channel of the pancreatic beta-cell, were found in patients with PNDM. Closure of the K(ATP) channel exerts a pivotal role in insulin secretion by modifying the resting membrane potential that leads to insulin exocytosis. We screened the KCNJ11 gene in 12 Italian patients with PNDM (onset within 3 months from birth) and in six patients with non-autoimmune, insulin-requiring diabetes diagnosed during the first year of life. Five different heterozygous mutations were identified: c.149G>C (p.R50P), c.175G>A (p.V59M), c.509A>G (p.K170R), c.510G>C (p.K170N), and c.601C>T (p.R201C) in eight patients with diabetes diagnosed between day 3 and 182. Mutations at Arg50 and Lys170 residues are novel. Four patients also presented with motor and/or developmental delay as previously reported. We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. Permanent diabetes of non autoimmune origin can present up to 6 months from birth in individuals with KCNJ11 and EIF2AK3 mutations. Therefore, we suggest that the acronym PNDM be replaced with the more comprehensive permanent diabetes mellitus of infancy (PDMI), linking it to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes.

DNA Mutational Analysis↗

PubMed1999

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

UNLABELLED: Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. CONCLUSION: It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.

Abnormalities, Multiple↗

PubMed1991

Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.

Generalized resistance to thyroid hormones (GRTH) commonly results from mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene. We have reported on a novel deletion mutation in c-erbA beta in a kindred, S, with GRTH. One patient from this kindred was the product of a consanguineous union from two affected members and was homozygous for the beta-receptor defect. This patient at 3.5 weeks of age had unprecedented elevations of TSH, free T4, and free T3 (TSH, 389 mU/L; free T4, 330.8 pmol/L; free T3, 82,719 fmol/L). He displayed a complex mixture of tissue-specific hyperthyroidism and hypothyroidism. He had delayed growth (height age, 1 3/12 yr at chronological age 2 9/12 yr) and skeletal maturation (bone age, 4 months), and developmental delay (developmental age, 8 months), but he was quite tachycardic. The homozygous patient of kindred S is markedly different from a recently reported patient with no c-erbA beta-receptor. This difference indicates that a dominant negative form of c-erbA beta in man can inhibit at least some thyroid hormone action mediated by the c-erbA alpha-receptors.

Adolescent↗

PubMed1992

Neurotoxicology of PCBs and related compounds.

Polychlorinated biphenyls (PCBs) are a family of 209 chemicals with two linked phenyl rings and variable chlorination. They are clear oils at room temperature. They were produced from the 1930s until banned in the 1970s because of toxicity and evidence of widespread environmental contamination. They were used mostly as insulators in electrical equipment; their widespread occurrence in the environment is more a consequence of uncontrolled disposal than of deliberate dissemination. In Asia, there have been two outbreaks of poisoning due to cooking oil contaminated by thermally degraded PCBs. Studies in workers exposed chronically to "clean" PCBs, workers exposed acutely to thermally degraded PCBs in clean-up of fires, and adult patients in Asia who ingested contaminated rice oil consistently show slowed nerve conduction and sometimes show headache, lassitude, and other CNS symptoms. In children exposed to background levels in the US, those with the highest transplacental exposure show hypotonia and hyporeflexia at birth and slowed motor development through age two, a defect in visual memory processing at 7 mon, and defects in short term memory at 4 years. Despite the presence of PCBs in breast milk, no association between breast milk exposure and any measured outcome has been seen other than lower activity levels at 4 years among long term breast fed children at the highest PCB levels. In Asia, children who were in utero at or after the 1968 exposure in Japan or the 1979 exposure in Taiwan showed clinically evident developmental delay. In Taiwan, the children were shown to have a variety of ectodermal defects, but the association between these defects and developmental delay was weak.(ABSTRACT TRUNCATED AT 250 WORDS)

Humans↗

PubMed2003

Metabolic disorders and mental retardation.

The metabolic and anatomical substrate of most forms of mental retardation is not known. Because the basis of normal brain function is not sufficiently understood, the basis of abnormal function is understood poorly. Even in disorders where the fundamental biochemical defect is known, such as phenylketonuria (PKU) and other enzyme defects, the exact basis for brain dysfunction is uncertain. The outcome for treated PKU, galactosemia, homocystinuria, and lysosomal disorders is not yet optimal. The various forms of nonketotic hyperglycinemia often respond poorly to current therapy. Less familiar disorders, with or without seizures, such as deficient synthesis of serine or creatine and impaired glucose transport into the brain, and disorders with variable malformations, such as Smith-Lemli-Opitz (SLO) syndrome and the congenital disorders of glycosylation (CDGs), may initially be thought to be a nonspecific form of developmental delay. Less familiar disorders, with or without seizures and disorders with variable malformations may initially be thought to be a nonspecific form of developmental delay. Simple tests of urine, blood, and cerebrospinal fluid may lead to a diagnosis, accurate genetic counseling, and better treatment. Metabolic brain imaging (magnetic resonance spectroscopy (MRS)) has also helped to reveal biochemical abnormalities within the brain.

Child↗

PubMed1984

Parent report as a means of administering the prescreening developmental questionnaire: an evaluation study.

The increasing emphasis on screening the pediatric population for developmental delays requires that rapid and efficient screening tests be developed and evaluated. This study assessed the ability of three rapid screening procedures to predict full Denver Developmental Screening Test (DDST) results. Ninety children were randomly assigned to one of three prescreening groups. The first group was prescreened with the Prescreening Developmental Questionnaire (PDQ), administered in the "standard" fashion, i.e., mother reads and answers 10 questions about her child's development. The second group was prescreened using a modified means of administering the PDQ (PDQ-M); a health care professional read each PDQ question to the mother. The third group was prescreened with the Alpern-Boll Developmental Profile II, a relatively lengthy procedure utilizing parent report information. All of the children were then tested with the DDST. Each of the prescreening procedures was highly predictive of performance on the DDST. The Alpern-Boll profile, as anticipated, demonstrated greater validity than the PDQ and PDQ-M on six of seven indices of prescreening test validity, generated from a four-group referral matrix. The PDQ-M was more similar to the Alpern-Boll on four indices, while the PDQ was more similar on three. It was judged that the two PDQ procedures were equivalent in their validity characteristics. The PDQ-M appears to be an acceptable means of rapidly screening preschool children for developmental delays.

Attitude↗

PubMed2006

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

We describe an 11-year-old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter-Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family. Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter-Tönz syndrome.

Abnormalities, Multiple↗

PubMed2006

Methimazole embryopathy: a contribution to defining the phenotype.

It has been suggested that children prenatally exposed to methimazole may present some features in common but the phenotype remains to be defined. The reported facial features include upward slanted palpebral fissures, arched flared eyebrows and small nose with a broad bridge. Choanal atresia and other anomalies like esophageal atresia and aplasia cutis were also described with this embryopathy. Additionally, developmental delay was reported in some patients along with one of these major malformation. We present a patient with the mentioned facial features, developmental delay and radio-ulnar synostosis whose mother has been exposed to methimazole during pregnancy and any other ethiological cause could be recognize.

Abnormalities, Drug-Induced↗

PubMed2003

Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.

The clinical significance of an interstitial duplication of (15)(q11-q13) remains unclear and controversial. The reported phenotypes vary widely and appear to be influenced by the parent of origin of the duplication. Aside from cases of dup(15) reported with autism, the behavioral phenotype of individuals with dup(15) has not been described. We present three families, two with intrachromosomal duplication (15)(q11-q13) ascertained because of developmental delay in a relative. Two families show clear evidence of multigenerational maternal inheritance. The individuals discussed in this paper have minor anomalies and developmental delays. In addition, we describe a behavioral phenotype which often includes attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder. Responses to medications used to manage these behaviors are also described, including a positive response to methylphenidate and a poor response to fluoxetine. The duplication in each presenting individual, and available family members, was investigated utilizing cytogenetic and molecular techniques including high resolution cytogenetics, fluorescence in situ hybridization (FISH), DNA methylation studies, and quantitative fluorescence PCR. High resolution cytogenetic techniques alone missed some cases, demonstrating the need to confirm results with other methods.

Child↗

PubMed2004

Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.

Costello syndrome is a rare congenital disorder whose diagnosis is based on clinical findings. The underlying genetic cause has not been identified. Common characteristics include failure to thrive, feeding problems, short stature, coarsening of facial features, developmental delay, mental retardation, skeletal problems, cardiac complications, and increased risk for solid tumors. Given its rarity, existing literature is limited regarding its natural course. Developmental milestones and intellectual functioning have never been systematically studied in this population, therefore this study focused on defining developmental and intellectual attributes. Data was obtained through solicited participation at the 3rd International Costello Syndrome Meeting. A total of 18 children (age 3-20 years) were administered the Leiter-R brief-IQ and the Peabody picture vocabulary test (PPVT)-III to assess nonverbal cognitive functioning and receptive vocabulary. Parents/guardians completed the child behavior checklist (CBCL) and participated in an interview process to complete the survey form of the Vineland adaptive behavior scales to assess emotional/behavioral issues and adaptive behavior. Results indicated that nonverbal cognitive functioning ranged from 1.5 to 4.3 SD below the age mean. Receptive vocabulary skills ranged from average functioning to 4 SD below the age mean. Adaptive behavior composites were all in the low range (2.0 to >5.0 SD below age mean), however there was significant variability in the range of domain scores. CBCL results ranged from normal to clinically significant across various clinical parameters. These data support a generalized descriptive pattern of developmental delay and mental retardation, with noted variability in receptive language, level of adaptive behavior functioning, and emotional/behavioral aspects. Skills and behavior are compared to existing literature of children with various syndromes.

Abnormalities, Multiple↗

PubMed2005

Mother-infant interactions and infant development are altered by maternal iron deficiency anemia.

The aim of this study was to determine whether iron deficiency anemia (IDA) in young South African mothers alters mother-infant interactions and the infant's development. The study was a prospective, randomized, controlled intervention trial with 3 groups of mothers: nonanemic controls and anemic mothers administered either placebo (25 mg ascorbic acid and 10 microg folate) or daily iron treatment (125 mg FeSO(4) plus ascorbate and folate). Mothers of full-term, normal birth weight infants (n = 81) were followed from 10 wk to 9 mo postpartum. Maternal iron status, socioeconomic level, mother-infant interaction [Parent/Caregiver Involvement Scale (PCIS scale)], and infant development (Griffiths scale) were assessed. At baseline, anemic mothers tended (P < 0.10) to be less responsive to, and more controlling of, their infants. Infants of anemic mothers were developmentally delayed at 10 wk in hand-eye movement and overall quotient. Despite normalization of maternal iron status with supplementation in some mothers, the developmental delays were not diminished at 9 mo. At 9 mo, anemic mothers were significantly more "negative" towards their babies, engaged less in goal setting, and were less "responsive" than control mothers. In contrast, the behavior of anemic mothers given iron treatment toward their children was similar to that of the control mothers on all 11 scales of the PCIS. In conclusion, IDA altered mother-child interactions at both 10 wk and 9 mo postpartum. Additionally, infants whose mothers were anemic in the early postpartum scored worse on developmental tests at 10 wk and 9 mo of age.

Anemia, Iron-Deficiency↗

PubMed1980

Neonatal polycythemia causing multiple cerebral infarcts.

A child had neonatal polycythemia, severe seizures beginning at 6 weeks of age, and a computerized tomography scan showing multiple cerebral infarcts. Follow-up showed substantial developmental delay with spastic quadriplegia. This case illustrates that neonatal polycythemia is a rare but preventable cause of multiple cerebral infarctions, subsequent seizures, and developmental delay.

Cerebral Infarction↗

PubMed2023

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well as more variable findings that include short stature, microcephaly, and facial dysmorphisms. A 4-year-old male with autism, developmental delay, microcephaly, and a happy demeanor underwent evaluation through the Undiagnosed Disease Network. He was clinically suspected to have Angelman syndrome; however, molecular testing was negative. Genome sequencing identified the H4 histone gene variant H4C5 NM_003545.4: c.295T>C, p.Tyr99His, which parental testing confirmed to be de novo. The variant met criteria for a likely pathogenic classification and is one of the seven known disease-causing missense variants in H4C5. A comparison of our proband's findings to the initial description of the H4-associated neurodevelopmental syndrome demonstrates that his phenotype closely matches the spectrum of those reported among the 29 affected individuals. As such, this report corroborates the delineation of neurodevelopmental syndrome caused by de novo missense H4 gene variants. Moreover, it suggests that cases of clinically suspected Angelman syndrome without molecular confirmation should undergo exome or genome sequencing, as novel neurodevelopmental syndromes with phenotypes overlapping with Angelman continue to be discovered.

Male↗

PubMedDate not supplied

Periventricular hyperintensity detected by magnetic resonance imaging in infancy.

Twenty-one infants younger than 12 months of age were diagnosed as having periventricular hyperintensity (PVH) on T2-weighted magnetic resonance imaging. Ten infants had experienced neonatal asphyxia, 6 intracranial hemorrhage, 2 bacterial meningitis, and 3 apnea. PVH was classified according to its extent. Round foci of PVH surrounding the frontal and occipital horns of the lateral ventricles were observed in 4 infants (PVH pattern I). Continuous PVH was observed in 17 infants (PVH patterns II and III). Fourteen infants with continuous PVH had spastic diplegia or quadriplegia. Developmental delay was demonstrated in 15 infants with continuous PVH. No PVH pattern I infants had cerebral palsy; only 1 such infant had mild developmental delay. Our study suggests that the extent of PVH reflects the severity of brain damage in neonates with cerebral injuries.

Asphyxia Neonatorum↗

PubMed2000

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, but much less severe microcephaly and a different type of movement disorder with later onset [Tomiwa K et al. (1987). Neuropediatrics 18:231-234]. An extensive literature search did not reveal any other reports of patients with a similar condition. We discuss the differential diagnosis.

Abnormalities, Multiple↗

PubMed1983

Evaluative understanding and role-taking ability: a comparison of deaf and hearing children.

The purposes of this study were (1) to evaluate the growth of social-cognitive knowledge in deaf and hearing children during the early and middle school years and (2) to assess the relative importance of language in 2 domains of social cognition. This study separately examined the child's ability to (1) evaluate the concepts of good and bad and (2) take another person's perspective. Subjects consisted of 30 deaf and 30 hearing children divided into 3 developmental levels (52 months, 74 months, and 119 months old). For the good/bad evaluation test, each child was shown 12 sets of multiple-choice pictures. Each set had 4 alternatives, which included 1 good, 1 bad, or all neutral activities. Role-taking ability was evaluated through the child's choice of strategy in a binary-choice hiding/guessing game. The results showed that deaf children evidence a developmental delay in the understanding of the concepts of good and bad. With regard to role-taking ability, there appears to be a developmental delay with young deaf children, which is no longer apparent by the age of 6. The assumption of egocentrism in school-age deaf children frequently found in the literature thus appears to be misleading. It is not that these deaf children are unable to take another person's perspective, but rather that they are delayed in evaluative understanding. The results suggest that language is of varying importance in differing domains of social and personality development.

Child↗

PubMed1999

[Nutritional status assessment in children entering foster care].

OBJECTIVE: The purpose of this study was to assess the nutritional status of abused and neglected children in a middle-sized city (Zaragoza, Spain) at the time of entry into foster care. PATIENTS AND METHODS: A cross-sectional study was performed over a 7-year period. Using the anthropometric method, the nutritional status of 684 children (379 boys/305 girls), ranging in age from 1-17 years, was assessed. Weight, height and body-mass index were formulated (mean and DS) and compared with normal national reference standards (Z-score). Significant statistical differences were assessed (Student's unpaired t test). RESULTS: Below, arranged by age and sex, the significant variances reflecting subnormal standards are listed. Weight: 1 and 2 year old boys and girls (p < 0.001); 3 and 4 year old girls (p < 0.01); 3, 4, 5 and 6 year old boys and 7, 8 and 10 year old girls (p < 0.05). Height: 1, 5 and 9 year old boys and 1, 2, 3, 4 and 11 year old girls (p < 0.001); 2 and 4 year old boys and 6 and 10 year old girls (p < 0.01); 3, 6, 10, 15, 16 and 17 year old boys and 8, 9, 11, 12, 13 and 17 year old girls (p < 0.05). Body-mass index: 1 year old boys (p < 0.001); 6 year old boys (p < 0.01); 1, 2 and 7 year old girls (p < 0.05). CONCLUSIONS: Malnutrition and growth delay are present in a high rate of children entering foster care. In preschool children, moderate forms of acute and chronic malnutrition with wasting and stunting are predominant, identifying with the "failure to thrive syndrome". In primary and secondary school aged children, mild forms of chronic malnutrition with growth failure are predominant. When growth and developmental delay is present in children entering foster care, in the majority of cases, nutritional and emotional deficiencies are the etiology for this delay. This is consistent with the concept of "growth and developmental delay of psychosocial deprivation origin".

Adolescent↗

PubMed2000

Long-term developmental outcomes in patients with deformational plagiocephaly.

OBJECTIVES: To determine whether there was an increased rate of later developmental delay in school-aged children who presented as infants with deformational plagiocephaly without obvious signs of delay at the time of initial evaluation. METHODS: A retrospective medical record review of 254 patients evaluated at the Craniofacial Center of the Children's Hospital and Regional Medical Center in Seattle, Washington, from 1980 through 1991 was completed. Consenting patient families were interviewed via telephone to determine what, if any, special medical or educational problems had occurred for the children who had had plagiocephaly in infancy or their siblings with normal head shapes. RESULTS: A total of 181 families from the medical record review could be notified about the study and 63 families agreed to participate in a telephone interview. The sample of participants for the telephone interview was random to and representative of the group as a whole. The families reported that 25 of the 63 children (39.7%) with persistent deformational plagiocephaly had received special help in primary school including: special education assistance, physical therapy, occupational therapy, speech therapy generally through an Individual Education Plan. Only 7 of 91 siblings (7.7%), serving as controls, required similar services (chi(2) = 21.24). Delays could not be specifically anticipated at the time of the diagnosis of deformational plagiocephaly from any simple set of factors including treatment with helmet therapy, although effected males with reported uterine constraint were at the highest risk for subsequent school problems. CONCLUSIONS: Infants with deformational plagiocephaly comprise a high-risk group for developmental difficulties presenting as subtle problems of cerebral dysfunction during the school-age years. There is a need for additional research on the long-term developmental problems in infants with deformational plagiocephaly. plagiocephaly, facial asymmetry, torticollis, developmental delay.

Developmental Disabilities↗