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PubMed2000

Feeding problems, sleep disturbances, and negative behaviors in a toddler.

Tiffany, a 3-year-old girl, was referred to the developmental and behavioral pediatrics service for evaluation of significant and persistent negative behaviors associated with refusal to eat at meal time and constant snacking during the past 3 months. She lost 2 pounds, but her weight for her height was at the 50th percentile. Her mother indicated that Tiffany had frequent night awakenings (>10) and late sleep onset (between 12:00 and 1:00 a.m.). Her mother described her as being "easily frustrated," getting upset and angry very quickly. Tiffany was identified at an early intervention program as having mild to moderate developmental delays in pragmatic speech, gross and fine motor skills, and social interaction skills. Tiffany was born at 33 weeks gestation and was hospitalized for 10 days without significant perinatal problems. She was readmitted at 2 months of age when she was diagnosed with gastroesophageal reflux, lactose intolerance, sleep apnea, and bradycardia. She was discharged with an apnea monitor. A seizure disorder was diagnosed at 1 year of age and reactive airway disease at 2 years of age. At the time of the referral to the developmental and behavioral pediatrics service, Tiffany was followed by multiple services, including cardiology, neurology, gastroenterology, psychology, and pulmonary. Pharmacologic therapies included albuterol and cromalyn inhalers, phenobarbital, valproic acid, levocarnitine, ranitidine, and an inhaled steroid. She continued to use the apnea monitor each night, although three sleep studies demonstrated a normal sleep pattern with no evidence of apnea or bradycardia. A recent electroencephalogram was normal. Tiffany lives with her mother and maternal grandparents. Her mother is morbidly obese with a history of asthma and depression. She was infertile for a 10-year period, which she attributed to the stress associated with living with an abusive man. Tiffany was the result of a subsequent, brief relationship with another man; she has not had contact with her father. Her mother is a licensed practical nurse who has not worked as a nurse since Tiffany's birth. An interdisciplinary treatment approach to Tiffany's multiple biological and behavioral problems was implemented by admitting her to a collaborative care unit at a children's hospital.

Anxiety↗

PubMed2004

Vein of Galen aneurysm malformation (VGAM): closing the management loop.

We report a case where an antenatal scan showed a cerebral vessel dilatation consistent with a vein of Galen malformation (VGAM). After delivery the diagnosis was confirmed on MRI scan. The infant's condition was stable in relation to the two important clinical indicators, mainly not in congestive cardiac failure and no hydrocephalus. The vein of Galen assessment score as used in Hopital Bicetre was 20/21. The scoring system is based on a multiorgan assessment including the five parameters cardiac, cerebral, respiratory, hepatic and renal (Table 1). A score of < 8 indicates no treatment, 8-12 means immediate intervention while a score > 12 delays intervention to circa six months of age. At four months the head circumference accelerated with hydroceaphalus on scans and the infant became clinically symptomatic. Urgent embolisation was performed. The procedure uses N-butylcyanoacrylate (NBCA) glue as the embolisation agent, which in this case was inserted through the left posteriomedial choroidal artery. Complete obliteration was achieved. The infant subsequently required insertion of a ventriculoperitoneal shunt for the hydrocephalus component. The infant has had no recurrence. He remains well on objective examination he has mild developmental delay. In summary this case highlights the value of antenatal diagnosis,the VGAM assessment score to determine the optimal time of intervention and the effectiveness of embolisation.

Adhesives↗

PubMed1995

[Enuresis from the viewpoint of the pediatric psychiatrist].

The etiological aspects of enuresis are diverse. Biological factors such as infection, developmental delay and genitourinary tract malformation must be excluded before the child psychiatrist ever undertakes to treat enuresis. In enuresis patients treated by a psychiatrist, an important role is played by the patients' social setting. These children came more often than controls from broken families, unhappy and quarreling parents who tends to give less attention to their children and encourage early separation. Enuresis is also more frequently associated with psychosocial changes (e.g., hospitalization, birth of a sibling, moving to a new home, etc.). The paper examines developmental stages of the child from the point of view of toilet training, circadian rhythms, and sleep stages from the point of view of enuresis incidence. What has a child psychiatrist to offer? Treatment of enuresis should involve a detailed analysis of the lifestyle, psychotherapy and drug therapy, rehabilitation and re-educational training. The most effective drugs are reviewed; these include tricyclic antidepressives (with a number of side effects) and Adiuretin as the drug of first choice, therapeutically hard-to-control enuresis, enuresis in adolescence, and the Peter Pan syndrome.

Adolescent↗

PubMed1994

Infant with multiple congenital anomalies and deletion (9)(q34.3).

We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.

Abnormalities, Multiple↗

PubMed2007

Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome.

Research examining autistic symptoms in Angelman syndrome (AS) is limited. The goal of this study was to further characterize the nature of stereotyped behaviors, social interaction deficits, and developmental disturbances in individuals with AS. Parents of 248 individuals between the ages of 3 and 22 completed a survey of autistic symptomatology by mail, the Gilliam Autism Rating Scale. Results confirmed a high degree of developmental delay and limited expressive language skills. In terms of stereotyped behaviors and social interaction, areas of convergence and divergence between AS and behaviors typically associated with autism spectrum disorders are described. The relationship between child characteristics (age, gender, seizure disorder, genetic subtype) and autistic symptomatology are discussed.

Adolescent↗

PubMed2006

Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome.

Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic abnormalities. Neurologic anomalies are frequently observed. This report presents a 2-year-old male with Kabuki syndrome who had a quadrigeminal cistern arachnoid cyst: the second case of such an association to be reported in the literature.

Arachnoid Cysts↗

PubMed2000

Developmental expression of amphiphysin in the retinotectal system of the chick: from mRNA to protein.

The role of amphiphysin in clathrin-mediated endocytosis of synaptic vesicles is well established. However, it is still uncertain if the protein is also involved in developmental mechanisms, e.g. axon outgrowth and synapse formation. To investigate the developmental changes in the expression of amphiphysin we used the retinotectal system of the chick, a highly ordered and easily accessible primary neuronal pathway. Reverse transcription polymerase chain reaction (RT-PCR) of total RNA from chick retina and tectum revealed first transcripts for amphiphysin, dynamin and synaptotagmin at embryonic day 5 (E5) for both regions. Surprisingly, Western blots of the retina revealed an increase of protein expression for amphiphysin only after E11 in the retina and the tectum. Immunofluorescence for amphiphysin was not detectable before E10 in the developing chick retina, while other presynaptic proteins like synaptotagmin showed already intense signals in the inner and outer plexiform layers. Subsequently, amphiphysin immunoreactivity follows the expression of synaptotagmin and synaptic vesicle protein 2 (SV2) as seen in the retina and the tectum, and exhibits the same staining as the other proteins in the mature chick brain. Ultrastructural data revealed for the first time that amphiphysin is not only limited to conventional synapses but is also abundant in retinal ribbon terminals. Taken together our data reveal that: (i) there is a developmental delay between mRNA transcription and protein expression for key proteins involved in endocytosis; (ii) amphiphysin gets upregulated after synapse formation; and (iii) amphiphysin is present in the synaptic vesicle cycle in retinal ribbon synapses.

Aging↗

PubMed2001

Celiac disease presenting with microcephaly.

A 15-month-old girl with celiac disease presented with microcephaly and developmental delay. Head growth resumed during a gluten-free diet. Subsequent gluten ingestion resulted in no head growth, areflexia, and increased celiac antibodies. All resolved with gluten elimination. Poor head growth may precede other clinical manifestations of celiac disease.

Celiac Disease↗

PubMed1998

Managing oral health related nutrition issues of high risk infants and children.

Dental professionals are in an ideal position to recognize children at high nutritional and oral health risk and provide early intervention. Some of the children at highest risk for nutritional and oral health problems include those born prematurely, children with failure to thrive, those on multiple medications, special needs children with developmental delays, children with gastroesophageal reflux, and those with lactose intolerance. Nutrition and oral health guidelines are provided to aid the dental practitioner in providing preventive nutrition intervention to these high risk children.

Child↗

PubMed2005

A descriptive hospital based study of children with autism.

The clinical and neurodevelopmental profile of 51 children with Autistic disorder, from a referral population was studied. A detailed history and examination was undertaken. The development/intelligence quotient and social quotient were assessed. Standard diagnostic tests were applied in children above 2 years of age. Younger children were evaluated with a screening test and re-evaluated at 2 years. It was observed that a correct diagnosis had been made in only 5.8% of children prior to referral. The mean age of presentation was 3.28 years. Ninety-six percent of the autistic children had developmental delay. Qualitative impairment in social interaction and communication was more commonly observed than restricted interests and activities. Forty-seven (92.15%) children were severely autistic and 4 (7.84%) mildly to moderately autistic. All children less than 2 years were confirmed to have Autistic disorder later.

Autistic Disorder↗

PubMed1983

Correction for prematurity and its consequences for the assessment of the very low birth weight infant.

The consequences of correcting developmental test scores for the degree of prematurity were studied in 2 cohorts of children each composed of demographically matched groups of preterm and full-term infants. The children were administered the Bayley Scales at 4, 8, 12, 18, and 24 months of age; the Stanford-Binet at 3 years; the Reynell Developmental Language Scales at 2, 3, and 4 years; and the McCarthy Scale of Children's Abilities, the ITPA Grammatic Closure, the Northwestern Syntax Screening Test, the Beery Developmental Test of Visual Motor Integration, and the Peabody Picture Vocabulary Test at 5 years. At each point in time, except some language measures at 5 years, the uncorrected scores of the preterms were significantly lower than those of the full-terms. Although the corrected scores were significantly lower early in development, they were not lower at 5 years, with the exception of the Beery VMI, a measure of perceptual-motor skills. In the first year the corrected scores were typically more highly correlated with 3-year and 5-year test scores. From 12 months on the uncorrected scores were usually more highly correlated. The same pattern was evident for the prediction of developmental delay. Correction for degree of prematurity appears to be appropriate in the first few months. After that point, slightly more accurate prediction is achieved by using the uncorrected scores. Early test scores are significantly influenced by the degree of biological maturity, but the impact of environmental influences increases with development.

Age Factors↗

PubMed1998

Acute, early thermal experience alters weaning onset in rats.

We hypothesized that first ingestion of solid food (weaning onset) would be accelerated in young rats with advanced thermoregulatory development. To manipulate the pups' thermoregulatory development, we exposed rat pups, but not their dams, to a Cold (10 degrees C), Moderate (21 degrees C), or Warm (31 degrees C) ambience for 2 h/day from postnatal Day 2-14, expecting that early exposure to cooler temperatures would accelerate development of thermoregulatory capabilities and thus accelerate nest egression as well as onset of feeding. Contrary to expectation, cold exposure was associated with a profile of developmental delays in both growth and maturation. Pups in the Cold condition began feeding later than pups with Moderate or Warm thermal experiences. We then evaluated thermoregulatory status (mechanisms for heat production and temperature conservation) on Day 15-16 (just prior to weaning onset). Thermogenesis, measured by oxygen consumption, was unaltered by the thermal manipulation. In contrast, pelage development (insulation) was altered. Pups in the Warm condition had greater fur density and an increased frequency of longer hairs relative to pups in the Cold condition. Although the developmental response to early cold exposure was in the direction opposite to our predictions, the hypothesized relation of thermoregulatory development to weaning onset was supported: Thermoregulatory status correlated with weaning onset.

Aging↗

PubMed1985

The facilitative effects of incidental teaching on preposition use by autistic children.

In a comparison of incidental teaching and traditional training procedures, three language-delayed autistic children were taught expressive use of prepositions to describe the location of preferred edibles and toys. Traditional highly structured training and incidental teaching procedures were used in a classroom setting, and generalization was assessed during free-play sessions. Results clearly indicate that incidental teaching promoted greater generalization and more spontaneous use of prepositions. These findings have important implications for language programming and teacher training, suggesting that incidental teaching should be included as a standard component of language development curricula for autistic and other developmentally delayed children.

Autistic Disorder↗

PubMed1994

Toluene embryopathy: clinical delineation and developmental follow-up.

OBJECTIVE: To expand the phenotype of toluene embryopathy. METHOD: Review of case records of 35 deliveries with antenatal exposure to toluene. Six children were examined and their features are compared with previously reported cases. RESULTS: There were three perinatal deaths. Of the survivors, review of available data revealed a high incidence of prematurity (42%), low birth weight (52%), and microcephaly (32%). Birth weight, length, and head circumference and gestational length were significantly less than a control group closely matched for gender, race, and socioeconomic status. Follow-up pediatric evaluation revealed growth retardation (46% < 5th percentile for weight, 38% < 5th percentile for height), microcephaly (46%), and developmental delays (38%). Maternal toluene abuse of 4 or more years was positively correlated with weight < 5th percentile and microcephaly in childhood. The six children examined demonstrated many previously described features of toluene embryopathy including microcephaly, narrow bifrontal diameter, short palpebral fissures, hypoplastic midface, wide nasal bridge, abnormal palmar creases, and blunt fingertips. Only one of the six children examined had antepartum exposure to alcohol as well as toluene. CONCLUSION: In utero exposure to toluene seems to be associated with teratogenicity in the developing fetus. A preliminary picture of toluene embryopathy is now emerging.

Abnormalities, Drug-Induced↗

PubMed2003

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

We report a young man with phenotypical features suggestive of Lujan-Fryns syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental delay and a 'breathy, raspy' voice. It may be appropriate to consider screening patients with a phenotype suggestive of Lujan-Fryns syndrome by fluorescence in situ hybridisation (FISH) using a probe for the subtelomeric region of the short arm of chromosome 5.

Adolescent↗

PubMed2004

Congenital ataxia and mental retardation in three brothers.

Nonprogressive congenital ataxia is a complex group of disorders caused by a variety of etiologic factors, both environmental and genetic. Hereditary forms represent a substantial part of congenital ataxias, which are difficult to classify because of their phenotypic and genetic polymorphism. Despite the advances in molecular genetics, for most nonprogressive congenital ataxia the etiology is still unknown. This report describes three sons of nonconsanguineous healthy parents, who manifested a syndrome characterized by nonprogressive ataxia, mental retardation, pyramidal signs, ocular and ocular motor anomalies, associated with severe hypoplasia of the cerebellar vermis and hemispheres on neuroimaging. All the patients have presented psychomotor developmental delay. As differential diagnosis, a comparison is made between the clinical features of these patients and the previously reported cases of nonprogressive congenital ataxia. This report represents a further example of the phenotypic and genetic heterogeneity of the syndromes with congenital ataxia.

Adolescent↗

PubMed2005

Seizure-prone EL/Suz mice exhibit physical and motor delays and heightened locomotor activity in response to novelty during development.

Seizure-prone EL/Suz mice have been studied as a model of multifactorial epilepsy for five decades. In prior behavioral studies, EL/Suz mice were shown to exhibit heightened locomotor activity, which implies a state of underlying hyperexcitability. The aim of the present study was to establish the premorbid behavioral development of basic motor skills and activity levels of EL/Suz mice, as compared with DDY mice, the control strain that is not seizure-prone. EL/Suz and DDY pups were monitored from Postnatal Day (PND) 3 to assess body weight, surface righting, negative geotaxis, forelimb grip strength, eye opening, habituation to a novel environment, and exploratory behavior in a two-compartment task. EL/Suz mice weighed less from PNDs 3 to 21 and exhibited delayed surface righting (PNDs 3, 5, 7) and negative geotaxis (PNDs 5, 7, 9) responses. EL/Suz and DDY mice differed in their habituation to a novel environment, with EL/Suz mice exhibiting higher activity, both within a single 10-minute session and across the 3 days of testing. EL/Suz and DDY mice also differed in the two-compartment task, with EL/Suz mice exhibiting increased locomotor activity and spending a greater amount of time in the light compartment. Thus, the present findings reveal that EL/Suz mice exhibit some developmental delays, altered habituation to a novel environment, and increased exploratory activity. Overall, the present results demonstrate that the behavioral and physiological phenotype of seizure-prone EL/Suz mice is deviant more than 2 months before the onset of seizure susceptibility.

Age Factors↗

PubMed1985

Reevaluation of Russell-Silver syndrome.

Russell-Silver syndrome was reevaluated 2.9 to 13.0 years after initial diagnosis in 15 patients. At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in five. Given the great variability in the long-term prognosis for growth and development in patients with Russell-Silver syndrome, there is a need to reevaluate this syndrome and its clinical implications.

Adolescent↗