Childhood Milestones Research Articles

Bed-Wetting and Its Association With Developmental Milestones in Early Childhood

Bed-Wetting and Its Association With Developmental Milestones in Early Childhood

Bed-wetting and Its Association With Developmental Milestones in Early Childhood

To evaluate the relationship between bed-wetting and various developmental milestones in a large and representative sample of young children. A randomized 3-level stratified survey design. Data were collected by questionnaires, and interviews were scheduled at home with the mother. A representative sample of children born from 1997 to 1998 in Quebec. A complete set of data on bed-wetting was obtained for 1666 children at the ages of 29, 41, and 53 months. Percentage of children who bed-wet and developmental factors associated with bed-wetting. Approximately 10% of the children were bed-wetting at the age of 53 months. Bed-wetting cessation occurred for most children studied between the ages of 29 and 41 months. Motor skills were achieved by fewer boys who bed-wet compared with boys who did not (had sat up without support for 10 minutes at 5 months, P = .05; and had started crawling at 5 months, P<.01). More girls who bed-wet were prematurely born and had hyperactivity and inattention (P<.01 for all) compared with those who did not. Language milestones were achieved by fewer children who bed-wet compared with those who did not (boys: P = .04; girls: P = .02). No between-group difference was found for physical growth and sleep variables. These findings show an association between bed-wetting and developmental milestones in early childhood. This study supports that bed-wetting could be indicative of a possible delay in the development of the central nervous system and could act as a noticeable indicator for parents and pediatricians.

Osteopetrosis, progressive sensorineural deafness, glaucoma, alopecia and cardiomyopathy in a 13 year old female: New syndrome or mild variant of YunisVaron syndrome?

This youngster presented at 10 years of age with bilateral genu valgum and rapidly progressive sensorineural hearing loss. Prior history was significant for delayed motor milestones in early childhood, but normal cognitive development. Family history was non-contributory. Initial exam was remarkable for bilateral proptosis and exotropia that was reported to be of recent onset associated with increased intraocular pressures. Mild alopecia was noted on the scalp. Hypodontia was noted with mostly primary teeth present. Cutaneous exam revealed taut, shiny skin on the fingers and diffuse cutis marmorata. Fingers were slightly tapered and there was bilateral genu valgum with a lumbering gait and muscle wasting of the calves. Radiographic studies revealed diffuse osteosclerosis suggestive of a form of osteopetrosis and the patient subsequently went on to have a number of pathologic fractures. A biopsy of the iliac crest revealed increased osteoblastic activity. Multiple CT and MRJ studies failed to find any evidence of optic or acoustic nerve compression despite progression to complete deafness, but calcification of the basal ganglia was noted incidentally. Two surgeries for glaucoma resulted in stabilization of intraocular pressures although the proptosis progressed. Studies for metabolic bone disease were normal including: alkaline phosphatase, calcium, phosphorus and 25 OH-vitamin D. Carbonic anhydrase I and II deficiencies were ruled out and a collagen vascular work-up was also normal. At twelve years of age the patient presented for care because of progressive shortness of breath and was found to have a severe, dilated cardiomyopathy. Primary and secondary carnitine deficiencies were ruled out and she stabilized on digoxin and lasix. Although this may represent a unique clinical entity, there are some overlapping features with Yunis-Varon syndrome(YVS), an autosomal recessive condition that generally presents in infancy. Overlapping features include: alopecia, hypodontia, bony sclerosis with pathological fractures as well as one child with YVS reported with dilated cardiomyopathy. However, the prenatal growth retardation, clavicular abnormalities, micrognathia and hand defects that are common in YVS are not seen in this patient. Other considerations include an unrecognized mitochondrial disorder or variant of osteopetrosis. A muscle biopsy will be done in the near future to provide additional diagnostic information.

Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of beta-glucuronidase.

A deficiency of beta-glucuronidase (GUSB) causes the multisystem progressive degenerative syndrome, mucopolysaccharidosis (MPS) type VII (Sly disease), which includes mental retardation. Animal homologues of MPS VII (ref. 3, 4) are models for testing somatic gene transfer approaches to treat the central nervous system in this and other lysosomal storage disorders. Previous attempts to correct murine MPS VII by gene therapy have successfully treated lesions in some organs but not in the brain. Other experimental modalities have forestalled some disease progression in the brain, but only if done at birth, before the onset of severe lesions, when the animals are phenotypically normal. We tested whether therapeutic amounts of GUSB could be delivered to the diseased adult brain by transplanting cells engineered to super-secrete the normal enzyme for export to surrounding neural tissues. Lysosomal distention was cleared from neurons and glial cells in the vicinity of the grafts, showing that the secreted enzyme could reach the diseased cells and reverse lesions in the severely diseased brain. The ability to correct established lesions will be important for the treatment of many lysosomal storage diseases affecting the brain, because most patients are not diagnosed until lesions are advanced enough to affect phenotype or developmental milestones in early childhood, and some forms of the diseases do not become apparent until later in life.

Clinical Assessment of Emotional Milestones in Infancy and Early Childhood

It is now possible to monitor, assess, and, where necessary, facilitate emotional development in infants, young children, and their families. The focus on the infant and the family from multiple aspects of development has made it possible to formulate developmental stages that focus on the infant's social and emotional functioning. This article includes an outline for the emotional evaluation of infants and young children.