Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years.

PURPOSE: To investigate Wiedemann-Steiner syndrome (WSS), its correlation to hypotonia and developmental delay, and to determine the relative intervention strategies that may be useful during early intervention from birth to 3 years. METHODS: A literature search using PEDro and PubMed was conducted using key words "Wiedemann-Steiner syndrome," "hypotonia," and "developmental delay" and a case study is presented. RESULTS: A 36-month-old child with WSS received PT intervention beginning at 2 months old. Addition of orthotics and treadmill walking was added at 13 and 19 months, respectively. The child progressed through developmental sequences from rolling, sitting, standing, and walking although consistently scored with motor delay of -2 SD. CONCLUSIONS: Fifty-seven percent of children diagnosed with WSS have hypotonia, and 90% have developmental delay. The diagnosis of WSS should require physical therapy services through early intervention programs due to its high correlation with motor developmental delay and disability. Determination of progress should be measured with achievement of function rather than norm-referenced outcome measures.Video Abstract: For more insights from the authors, access Supplemental Digital Content 1, available at: http://links.lww.com/PPT/A292.

Relative importance of prenatal and postnatal determinants of stunting: data mining approaches to the MINIMat cohort, Bangladesh.

INTRODUCTION: WHO has set a goal to reduce the prevalence of stunted child growth by 40% by the year 2025. To reach this goal, it is imperative to establish the relative importance of risk factors for stunting to deliver appropriate interventions. Currently, most interventions take place in late infancy and early childhood. This study aimed to identify the most critical prenatal and postnatal determinants of linear growth 0-24 months and the risk factors for stunting at 2 years, and to identify subgroups with different growth trajectories and levels of stunting at 2 years. METHODS: Conditional inference tree-based methods were applied to the extensive Maternal and Infant Nutrition Interventions in Matlab trial database with 309 variables of 2723 children, their parents and living conditions, including socioeconomic, nutritional and other biological characteristics of the parents; maternal exposure to violence; household food security; breast and complementary feeding; and measurements of morbidity of the mothers during pregnancy and repeatedly of their children up to 24 months of age. Child anthropometry was measured monthly from birth to 12 months, thereafter quarterly to 24 months. RESULTS: Birth length and weight were the most critical factors for linear growth 0-24 months and stunting at 2 years, followed by maternal anthropometry and parental education. Conditions after birth, such as feeding practices and morbidity, were less strongly associated with linear growth trajectories and stunting at 2 years. CONCLUSION: The results of this study emphasise the benefit of interventions before conception and during pregnancy to reach a substantial reduction in stunting.

Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report.

RATIONALE: Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a very rare multisystem disorder, which shows malformations of the central nervous system, ears, eyes, teeth, and skeleton that was first reported in 1991. Only a few cases that sporadically occurred have been reported worldwide. The research investigating the pathogenesis and patterns of CODAS inheritance is still ongoing. There is no satisfactory treatment for this rare genetic disease yet. Due to the lack of curative medical treatment, rehabilitation could play a major role in treatment for genetic disease. PATIENT CONCERNS: To our best knowledge, the 2 children described in this study are the only CODAS syndromes siblings reported in the world so far. These Korean siblings show highly distinctive features consisting of developmental delay, cataracts, vulnerability to tooth decay, epiphyseal dysplasia, and anomalous ears. DIAGNOSES: CODAS syndrome. INTERVENTIONS: Comprehensive long-term rehabilitation treatment during 5 years. OUTCOMES: We report on the progress of the comprehensive long-term rehabilitation treatment at 5-year follow-up. Their fine motor and language skills development improved similarly to that of same-aged children. We observed the positive effect of rehabilitation on the quality of life. LESSONS: The therapy of genetic disorders is challenging for pediatric neurologists and pediatric physiatrists. We suggest that rehabilitation is the best treatment currently available for this genetic disease that yields satisfactory therapeutic effect.

Linear growth faltering and the role of weight attainment: Prospective analysis of young children recovering from severe wasting in Niger.

Efforts to reduce the impact of stunting have been largely independent of interventions to reduce the impact of wasting, despite the observation that the conditions can coexist in the same child and increase risk of death. To optimize the management of malnourished children-who can be wasted, stunted, or both-the relationship between stunting and wasting should be elaborated. We aimed to describe the relationship between concurrent weight and height gain during and after rehabilitation from severe wasting. We conducted a secondary analysis of a randomized trial for the outpatient treatment of severe wasting, including 1,542 children who recovered and were followed for 12 weeks. We described the overlap of stunting and severe wasting and the change in stunting over time. We showed the relationship between concurrent weight and height gain using adjusted generalized estimating equations and calculated the mean rate of change in weight-for-height z score (WHZ) and height-for-age z score (HAZ) during and after rehabilitation. At baseline, 79% (n = 1,223/1,542) and 49% (n = 757/1,542) of children were stunted and severely stunted, respectively. Prevalence increased over time among children <24 months. During rehabilitation when weight was not yet fully recovered, we found rapid WHZ gain but limited HAZ gain. Following successful rehabilitation, WHZ gain slowed. The rate of HAZ gain was negative after rehabilitation but increased relative to the period during treatment. The potential relationship between weight and height gain calls for increased coverage of wasting treatment to not only prevent child mortality but also reduce linear growth faltering.

Birth Size, Stunting and Recovery from Stunting in Andhra Pradesh, India: Evidence from the Young Lives Study.

Objectives Few Indian studies have examined the relationship between birth size and stunting in children. Studies on recovery from stunting in India are even fewer. This study, thus, investigates the relationship between birth size and stunting in Andhra Pradesh, India. This study further examines the factors associated with recovery from stunting using a longitudinal data. Methods We used data from the three waves of Young Lives Study (YLS) conducted in Andhra Pradesh in the years 2002, 2006-2007, and 2009 respectively. We used data from 1965 children in wave 1 to examine the association between birth size and stunting. For examining the factors associated with recovery from stunting between 1 and 5 years of age, and between 5 and 8 years, we use data from 582 and 670 children who were stunted at age 1 and age 5 respectively. We use multivariable logistic regression models to fulfil the objectives of the paper. Results The children who were of average- or large- size at birth were significantly less likely to be stunted than children who were of small size at birth (OR 0.61 and 0.47 respectively). Children of average/tall mothers were 0.41 times less likely to be stunted than children of shorter mothers. Severely stunted children were less likely than other stunted children to recover from stunting between 1 and 5 years of age, and between 5 and 8 years. Mother's height was statistically associated with recovery. Change in wealth status of the household was statistically associated with recovery between 1 and 5 years of age. In comparison, child immunization was associated with recovery between 5 and 8 years. Conclusions for Practice This study contributes to the understanding of the impact of birth size on childhood stunting, and to the extent of recovery from stunting in India. Further follow-up is necessary to demonstrate the impact during adolescence and adulthood.

Are diet and feeding behaviours associated with the onset of and recovery from slow weight gain in early infancy?

Infants with slow weight gain cause concern in parents and professionals, but it is difficult to be certain whether such infants are genetically small or whether their energy intake is insufficient. The aim of the present study was to assess the impact of diet and feeding behaviours on slow weight gain early in infancy. The sample was 11 499 term infants from the Avon Longitudinal Study of Parents and Children (ALSPAC). A total of 507 cases of slow weight gain from birth to 8 weeks were identified and the remaining 10 992 infants were used as controls. It was found that infants who gained weight slowly between birth and 8 weeks were more likely to exhibit feeding problems such as weak sucking and slow feeding during this period. Feeding problems were substantially reduced during the recovery phase (8 weeks to 2 years) when these infants exhibited enhanced catch-up in weight. The proportion of mothers breast-feeding in the 4th week after birth was higher for slow weight gainers, but they were more likely to switch to formula at the start of recovery. During recovery, slow-weight gain infants had a slightly higher energy intake from formula and solids than controls. In conclusion, feeding problems seem to be the most important factors associated with the onset of early slow weight gain. Subsequently, a reduction of feeding problems and an increase in overall energy intake may contribute to their weight recovery. Health professionals should look for feeding problems in the first few weeks after birth and help mothers establish adequate feeding practices.

Experience of adolescence in patients treated with GH during childhood.

OBJECTIVE: To assess quality of life (QoL) and self-esteem among older adolescents and young adults treated with growth hormone (GH) during childhood for partial or complete GH deficiency or small for gestational age (SGA) status. METHODS: Postal survey, including a general self-questionnaire and two QoL questionnaires (SF36 and QLS-H), conducted among patients treated with GH at the pediatric outpatient clinic of the Ambroise Pard University Hospital (Boulogne-Billancourt, France) during the last 20 years. RESULTS: Thirty five patients (53.8%) returned their questionnaires completed. Social adjustment and quality of life of patients evaluated was similar to the general population despite lower-than-average final height. However a negative impact on sexuality and relationships with members of the opposite sex was suggested by the later mean ages of first romantic kiss and first sexual intercourse (15.5 years and 19.0 years old, respectively). CONCLUSION: Among patients treated with GH during childhood, psychological impacts may persist in late adolescence. These results indicate a need for improved management of GH-treated children at puberty.

Growth and development in internationally adopted children: extent and timing of recovery after early adversity.

BACKGROUND: Following initial adversity, internationally adopted children arrive with significant growth and developmental delays. Post-placement recovery has been widely documented, but little has been known about its extent and timing several years after placement and in children with diverse pre-adoptive experiences. METHODS: A total of 289 children adopted from six countries into Spanish families were studied. Growth and psychological development were considered on arrival and after an average of over 3 years. RESULTS: Growth and developmental initial delays affected a substantial percentage of the children. Post-adoption recovery seemed quicker and more complete in weight and height than in head circumference and psychological development. Initial and later values were correlated, but growth-development relation on arrival subsequently lost significance. Most of the catch-up happened in the first three post-adoption years. CONCLUSION: Adoption offers an impressive opportunity for recovery after previous adversity, although continuity between past and present persists. The improvement is more marked in some areas than in others and more substantial in the first post-adoption years.

[The Outpatient Health Care Package for the very premature infant: application of the program to follow-up services for the Neonatal Intensive Care, Pediatrics Department, Università "La Sapienza" I Facoltà, Roma (June 2008-March 2010)]. / II Pacchetto Ambulatoriale Complesso (PAC) del neonato altamente pretermine: applicazione del programma presso il servizio di follow-up della Terapia Intensiva Neonatale, Dipartimento di pediatria, Università "La Sapienza" I Facoltà, Roma (Giugno 2008-Marzo 2010).

Fifty-nine children were enrolled in the Outpatient Health Care Package (OHCP) from 01/06/2008 to 31/03/2010. All children, except two, attended entirely the follow-up appointments; a satisfactory result, considering also that 30% of family were living outside the urban area and more than a third of the families was originated in a foreign country. At 3 months corrected age(CA) Haemoglobin mean values of 47 infants, all in iron treatment, were: 12.26 (10.1-14-1) g/dL; 25% had values between 10.1 and 12 g/dL. Mean values for Calcium were 10.75 (9.50-15.26) mg/dL Mean values for ALP were 393 (179-1075) UI/L, values >1000 UI/L were found in two infants who suspended Vitamin D treatment. At 3 months CA 50 infants performed ABR, 12 of these showing abnormalities. To date 9 infants repeated ABR at 6-9 months CA, 4 of these showed again abnormal results. Overall were found 4 ABR abnormalities among 47 children (8.5%). Outcome of 23 children at 12 months CA: no moderate or severe neurologic abnormalities were found, 4 children (17.4%) presented mild abnormalities, 2 were referred for rehabilitation. No QSM <80% was found (mean QSM 93.7%) in 10 children evaluated. One child presented growth retardation <5 degrees; 2 underwent laser treatment for ROP with normal vision, 7 (30.4%)had sistolic BP > or = 95 degrees; 6 (26%) were rehospitalized. This experience was positive: OHCP promoted a better compliance and standardization of follow-up. It would be desirable to prolong OHCP until school-age, including renal and cardiac functions monitoring.

A study on strategies for improving growth and body composition after renal transplantation.

Allograft function and metabolic effects of four treatment regimens, namely, methylprednisone (MP) standard dose (MP-STD), deflazacort (DFZ), MP-late steroid withdrawal (MP-LSW), and MP-very low dose (MP-VLD), were evaluated in prepubertal patients. MP was decreased by month 4 post-transplantation to 0.2 mg/kg/day in MP-STD and DFZ patients and to <0.1 mg/kg/day in MP-LSW and MP-VLD patients. Starting in month 16 post-transplant, MP was switched to DFZ in the DFZ group and totally withdrawn in the MP-LSW group. Creatinine clearance diminished in the MP-STD and MP-LSW groups from 77 +/- 6 to 63 +/- 6 ml/min/1.73 m(2)and from 103 +/- 5 to 78 +/- 3 ml/min/1.73 m(2), respectively (p < 0.01 and p < 0.001, respectively). Height increased >0.5 SDS only in the MP-LSW and MP-VLD groups. The body mass index and fat body mass for height-age increased only in the MP-STD patients (p < 0.05 and p < 0.01, respectively). Fat body mass decreased in the DFZ group (p < 0.05), total cholesterol and LDL-cholesterol increased in the MP-STD group, while LDL-cholesterol and total cholesterol/HDL-cholesterol ratio decreased in the DFZ group (p < 0.01). Lumbar spine bone mineral density (BMD) for height-age showed an increase in the MP-LSW and MP-VLD groups (p < 0.01). Our data suggest that MP-LSW and MP-VLD strategies improve linear growth, BMD, the peripheral distribution of fat, and preservation of the bone-muscle unit and maintain the normal lipid profile. The MP-LSW patients had a concerning rate of acute rejections and graft function deterioration in prepubertal patients.

Does pituitary stalk function improve with age?

Ectopic posterior pituitary hyperintensity on MRI is a common feature associated with growth hormone deficiency. The presence of at least some residual components of the pituitary stalk is necessary for adequate anterior pituitary function. Little is known about long-term change in pituitary function or MRI findings in patients with ectopic posterior pituitary and interrupted pituitary stalk. We describe a case of childhood growth hormone deficiency and hyperprolactinemia associated with absent pituitary stalk. As an adult, prolactin levels normalized and GH secretion improved associated with changes in MRI findings.

Catch-up growth assessment in long-term physically neglected and emotionally abused preschool age male children.

OBJECTIVE: To assess the catch-up growth of long-term physically neglected and emotionally abused preschool male children who have entered foster residential care and remained 1 year after initial placement. METHOD: Longitudinal study over a 7-year period (1994-2001). So that a child was eligible for the study, three selection criteria were included: (1) aged between 24 and 48 months at the time of entry into residential facility, (2) having suffered both long-term (more than 6 months) physically neglected and emotionally abused, and (3) having stayed in foster care for 1 year after initial placement. Weight, height, and head circumference were established upon entry and re-assessed 1 year after initial placement, calculating the annual growth velocity. Results were compared with normal regional longitudinal standards of reference (Z score). Student's t test was used to assess statistically significant differences. RESULTS: During the study period, 87 children aged between 24 and 48 months (54 male/33 female) were admitted to residential facility after having suffered both long-term physical neglect and emotional abuse. Nevertheless, only 20 children (23% of the total admissions) met the third selection criteria (having remained 1 year after initial placement). Of these children, all were males and at placement they were between the ages of 30 and 42 months, with an average age of 36 months (1.9 SD). At placement, the analyzed parameters were below the normal standards, showing a statistically significant difference for height (Z score = -1.29; p = .008) and weight (Z score = -.75; p = .038). The annual growth velocity for all parameters was above the normal standards showing a statistically significant difference for height (Z score = +1.43; p = .009). One year after initial placement, the significant differences for height (Z score = -.68; p = .102) and weight (Z score = -.31; p = .435) with respect to the normal standards disappeared, though still remained below, showing a significant catch-up growth for height (improvement height Z = +.61 SD). CONCLUSIONS: At placement, the both long-term physically neglected and emotionally abused preschool age male children showed a mild form of chronic malnutrition with growth failure. Growth failure was reversible after the first year of stay, which demonstrates that this delay in growth was secondary to nutritional and psychosocial factors. Placement in foster residential care was beneficial for the catch-up growth of these patients.

Estudio del paceinte con talla baja

El crecimiento en el niño y en el adolecente es un buen indicador de salud, pero el hipocrecimiento o talla baja - y se debe insistir en ello - no es una enfermedad. Durante los últimos años se ha venido incrementando la consulta por la talla baja o corta estatura y muchas veces son los padres quienes alimentan en sus hijos las expectativas de ser más altos. Existe la creencia de que la estatura alta es sinónimo de grandeza, de éxito, o de mejor proyección social.Cuando se estudia un paciente por talla baja, el objetivo final es establecer la diferencia entre la talla baja normal y la patológica. El crecimiento estatural del niño refleja su estado de salud, sus condiciones de vida y potencial genético.

Tratamento ortopédico-funcional das fraturas do côndilo mandibular em crianças: relato de casos / Functional orthopedic treatment of mandibular condyle fractures in children: case reports

Este artigo apresenta uma revisäo de literatura sobre métodos de tratamento (cirúrgico ou conservador) de fraturas de côndilo mandibular em crianças e suas conseqüências (anquilose e/ou assimetria), com apresentaçäo de dois casos clínicos tratados conservadoramente com aparelhos ortopédicos funcionais

Nutritional supplementation, psychosocial stimulation, and growth of stunted children: the Jamaican study.

The benefits of nutritional supplementation, with or without psychosocial stimulation, on the growth of stunted children were evaluated. Children aged 9-24 mo with lengths less than -2 SD of the National Center for Health Statistics references (n = 129) were randomly assigned to four groups: control, nutritional supplementation, stimulation, and both interventions. A fifth group with lengths greater than -1 SD was also enrolled. Length, weight, head and arm circumferences, and triceps and subscapular skinfold thicknesses were measured on enrollment and 6 and 12 mo later. Multiple-regression analysis was used to determine the effects of the interventions in which age, sex, initial status, initial dietary intake, and several socioeconomic variables were controlled for. Stimulation had no effect on growth and there was no interaction between the interventions. After 12 mo supplemented children had significantly increased length, weight, and head circumference (all P less than 0.01). The effects of supplementation were not cumulative but occurred in the first 6 mo.

Nutritional supplementation, psychosocial stimulation, and growth of stunted children: the Jamaican study

The benefits of nutritional supplementation, with or without psychosocial stimulation, on the growth of stunted children were evaluated. Children aged 9-24 mo with lengths < -2 SD of the National Center of Health Statistics references (n = 129) were randomly assigned to four groups: control, nutritional supplementation, stimulation, and both interventions. A fifth group with lengths > -1 SD was also enrolled. Length, weight, head and arm circumferences, and triceps and subscapular skinfold thicknesses were measured on enrollment and 6 and 12 mo later. Multiple-regression analysis was used to determine the effects of the interventions in which age, sex, initial status, initial dietary intake, and several socioeconomic variables were controlled for. Stimulation had no effect on growth and there was no interaction between the interventions. After 12 mo supplemented children had significantly increased length, weight, and head circumference (all P < 0.01). The effects of supplementation were not cumulative but occurred in the first 6 mo.(AU)

Psychosocial aspects of young adult growth hormone deficient patients previously treated with human growth hormone--a preliminary report.

This paper describes a multidisciplinary approach to treating patients with hGH deficiency. The team includes paediatric endocrinologists, social workers and psychologists, and is felt to provide a much better standard of care, producing subjects who are well integrated into society.