Overview

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For all new parents who are just now checking in: take a deep breath. It will be ok and ok won't look too bad. We are in a period of rapid understanding and growth in terms of PWS. Your new baby will have advantages and consequently be able to make progress that children born just three years earlier will have trouble making. The trick is to learn from everything that has heppened to older kids with PWS, but do not limit your children to those strategies and those accomplishments. Chances are good that your children will do far better then children who came before.

I believe that children diagnosed today will have much better outcomes than the 20 and 30 year old PWS patients you see described on television and in the clinical textbooks. Why do I believe that? Because I believe in the power of early intervention. We have the benefit of an early diagnosis, of knowledge, of a network of parents, of growth hormone, and of therapy specialists. These are things that that parents before us did not have. They were working in the dark most of the time trying desperately to find anything that might help their child just a bit.

I believe that environment can make a huge difference in the outcome of a patient with PWS and this is why: Evidence suggests that the nervous system/behavior and metabolism are both highly redundant systems that are designed to adapt to the environment. It is likely that the reason the deletion occurs in the PWS area of chromosome 15 is that there are a cluster of genes related to behavior and metabolism. It is to the benefit of the species to shake things up a bit by mixing and matching these genes as differences in behavior and metabolism can have a huge effect on whether an individual survives or perishes. So, there are recombinant hot spots in the gene around that part of chromosome 15. Mostly, these genes rearrange and mix and match and you get variability without pathology. Unfortunately in the case of our children the process wasn't seamless. But, the fact remains that this mistake affects two systems (nervous and metabolism) that are extremely redundant and which are designed to respond and adapt to environmental stimuli. So, here are a few bullet points. I would love it if others would refine and elaborate upon these ideas and add additional ones.

  • Calorie intake during the first year of life is related to later cognitive functioning and especially language development. Thus, children who are diagnosed early and are on feeding tubes and get the calories they need are expected to have better outcomes.
  • EFAs available in breastmilk and lipil formula and in fish oil are associated with improved cognitive functioning. EFAs in formula are relatively new. Also I think many of us pumped longer because we had a diagnosis then we would have if we thought it was simply a matter of us not "having enough milk" for our baby.
  • Vitamin E promotes vascular growth. The supplements we are giving may be promoting increased strength and increased cognitive functioning.
  • Exploration of the environment during that critical first year is associated with higher cognitive functioning. Our children are on growth hormone and thus tend to meet motor milestones earlier and therefore are likely to have reap cognitive rewards from this.
  • Movement builds muscle strength and muscle strength allows for more movement and confidence in the body and the body's ability to achieve physical goals. This should translate into improved long term body image and a greater quality of life.
  • GH shifts body composition from fat to lean muscle. This allows for a higher consumption of calories which means that our children may not have to be on diets that are as restrictive in terms of calories.
  • Ability to achieve normal physical milestones means that a child has more physical options open to them and may learn to take pleasure from swimming or running or gymnastics. This is something that is probably out of the question for a child who is already obese. An understanding of the pleasure that comes from exercise and the habit of exercising may translate into a more active lifestyle with many obvious health benefits.
  • Active individuals burn more calories. If our children have improved muscle mass, improved stamina, improved coordination, and are in the habit of exercising they are likely to lead more active lifestyles that will burn more calories. This will mean that they will not have to be on the restrictive diets required of older PWS folks.
  • Stimulation of the periphery (massage, etc.) promotes peripheral nerve growth. Our children are missing a gene that is important for peripheral nerve growth. When we massage and stimulate the periphery we are likely encouraging tech nervous system to compensate.
  • Infants that are held and rocked are healthier and develop better social/behavioral skills. We know not to leave our "weak" babies in the corner until they get their strength back, by which time a critical window of development may be over.
  • PWS folks often have sleep disturbances that translate into fatigue, behavioral problems, lower functioning, inactivity, and weight gain. The field of sleep science is rapidly advancing and there are already several drugs available that are quite promising in terms of relieving these symptoms. Not to mention that fact that awareness of these sleep issues has already prompted more "simple" steps such as the oxygen masks, etc. that can be quite helpful. A child that spends the first 12 years of life in a sleep deprived state has lost those years forever. You can never completely make up that opportunity to socialize and learn to read and write and count, etc.
  • There is an incredible amount of effort right now focused on appetite suppressant drugs and devices. An April 2005 New York Times article stated that 200 obesity drugs are in the research pipeline or currently being tested. Chances are that one or more of these drugs will be helpful to your child by the time that your child needs it.

Finally, don't forget that the increasing awareness of PWS and the improved diagnostic tools (methylation, etc.) means that there are more and more individuals diagnosed with PWS. I believe that many of these individuals may still be in their 20's, 30's, and older and doing quite fine. They are probably overweight and they may not be Einsteins, but they are fine. So, I think that if there is a person over 20 who diagnosed with PWS, they likely had pretty strong clinical symptoms in order to go to an endocrinologist or geneticist and get tested. Just from reading the posts on this list I would say that many of our kids would not have been diagnosed 10 years ago because their clinical symptoms are relatively mild.

And finally, we can share information and tips and support through the Internet. The technology of the world wide web has made it possible for parents of children with a rare condition to form a tight community and share information and hope.

When you read about PWS and the outcomes from this syndrome, remember that those individuals were diagnosed as children. They and their families did not have the advantage of early diagnosis and early interventions. There is every reason to think that the outcome for our children will be incredibly different. We can learn from the efforts of past families and we can learn from the efforts of current families.

The early interventions on the Main Page are meant to be a gathering of different thoughts and opinions. My preference would be to keep all ideas on this list. If you have a negative feeling or a warning about any of these early interventions, by all means write the warning. Not all interventions are right for all children and all families. This is meant to merely be a gathering point for interventions that may be useful.

Research

J Pediatr. 2000 Jul;137(1):36-41.

Effects of growth restriction in early childhood on growth, IQ, and cognition at age 11 to 12 years and the benefits of nutritional supplementation and psychosocial stimulation.

Walker SP, Grantham-Mcgregor SM, Powell CA, Chang SM.

Epidemiology Research Unit, Tropical Medicine Research Institute, University of the West Indies, Kingston, Jamaica.

OBJECTIVES: (1) To determine whether benefits to growth and cognition remain after intervention in growth-restricted children who received psychosocial stimulation and nutritional supplementation in early childhood. (2) To investigate the extent of the differences in IQ and cognition at age 11 to 12 years between growth-restricted and non-growth-restricted children. STUDY DESIGN: Growth-restricted and non-growth-restricted children were identified at age 9 to 24 months, at which time the growth-restricted children participated in a 2-year randomized trial of nutritional supplementation and psychosocial stimulation. Eight years after the interventions ended, the children's growth, IQ, and cognitive functions were measured. RESULTS: There were no significant benefits from supplementation to growth or cognition. Children who had received stimulation had higher scores on the Weschler Intelligence Scales for Children-Revised full-scale (IQ) and verbal scale and tests of vocabulary and reasoning (all P <.05). The growth-restricted children had significantly lower scores than the non-growth-restricted children on 10 of 11 cognitive tests. CONCLUSIONS: Psychosocial stimulation had small but significant long-term benefits on cognition in growth-restricted children. Growth-restricted children had significantly poorer performance than non-growth-restricted children on a wide range of cognitive tests, supporting the conclusion that growth restriction has long-term functional consequences.

Nutrition is critical

BMJ. 1998 Nov 28;317(7171):1481-7.

Randomised trial of early diet in preterm babies and later intelligence quotient.

Lucas A, Morley R, Cole TJ.

Medical Research Council Childhood Nutrition Research Centre, Institute of Child Health, London WC1N 1EH, UK. A.Lucas@ich.ucl.ac.uk

OBJECTIVES: To determine whether perinatal nutrition influences cognitive function at 7 1/2 - 8 years in children born preterm. DESIGN: Randomised, blinded nutritional intervention trial. Blinded follow up at 7 1/2 - 8 years. SETTING: Intervention phase in two neonatal units; follow up in a clinic or school setting. SUBJECTS: 424 preterm infants who weighed under 1850 g at birth; 360 of those who survived were tested at 7 1/2 - 8 years. INTERVENTIONS: Standard infant formula versus nutrient enriched preterm formula randomly assigned as sole diet (trial A) or supplements to maternal milk (trial B) fed for a mean of 1 month. MAIN OUTCOME MEASURES: Intelligence quotient (IQ) at 7 1/2 - 8 years with abbreviated Weschler intelligence scale for children (revised). RESULTS: There was a major sex difference in the impact of diet. At 7 1/2 - 8 years boys previously fed standard versus preterm formula as sole diet had a 12.2 point disadvantage (95% confidence interval 3.7 to 20.6; P<0.01) in verbal IQ. In those with highest intakes of trial diets corresponding figures were 9.5 point disadvantage and 14.4 point disadvantage in overall IQ (1.2 to 17.7; P<0.05) and verbal IQ (5.7 to 23.2; P<0.01). Consequently, more infants fed term formula had low verbal IQ (<85): 31% versus 14% for both sexes (P=0.02) and 47% versus 13% in boys P=0.009). There was a higher incidence of cerebral palsy in those fed term formula; exclusion of such children did not alter the findings. CONCLUSIONS: Preterm infants are vulnerable to suboptimal early nutrition in terms of their cognitive performance--notably, language based skills--at 7 1/2 - 8 years, when cognitive scores are highly predictive of adult ones. Our data on cerebral palsy generate a new hypothesis that suboptimal nutritional management during a critical or plastic early period of rapid brain growth could impair functional compensation in those sustaining an earlier brain insult. Cognitive function, notably in males, may be permanently impaired by suboptimal neonatal nutrition.