Stages of Hypophagia

One of the the major characteristics - if not the main one - is the issue around eating, appetite, and the fact that there seems to be no "on/off" switch to regulate the appetite.  It is ironic that a newborn babe is virtually unable to feed, yet this turns completely around to become a child who simply cannot stop feeding.

Most of us understand that this is a genetic condition and something that cannot be cured, but it can be managed.  I found the following chart in a paper entitled Clinical Characteristics of the Nutritional Phases and thought it was really interesting to track these phases with the stages that my daughter went through.  Now that she is in her early 30s, she is, generally speaking, a lot more flexible around food and will accept changes if there is a good reason for them.  It's been a long time coming, I have to say.  We still lock food cupboards and the fridge and she can't really be trusted around food that is left out, and she's still very opportunistic (will take every opportunity if it's left open to her), but she's clearly not the teenager that we had huge challenges with.

Of course, everyone is different and there is a huge scale of difference where the person you know with PWS might fit in.  The reason I'm sharing this Table with you is simply because when my daughter was growing up, other people could just not understand her obsession with food, her behaviour around food, and the very real consequences it had - not just for her, but for our whole family.  This Table is pretty clear in its definition and this is a good thing to share with those who just don't 'get it'.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TABLE I. Clinical Characteristics of the Nutritional Phases

Phase 0      

• Decreased fetal movements and lower birth weight
• Full-term birth weight and BMI are about 15–20% less than the siblings
• Typically normal gestational age
• 85% have decreased fetal movements

Phase 1a    

• Hypotonia with difficulty feeding (0–9 months)
• Weak, uncoordinated suck. Usually cannot breastfeed
• Needs assistance with feeding either through feeding tubes (nasal/oral gastric tube or gastrostomy tube) or orally with special, widened nipples. Many would die without assisted feeding
• Oral feeds are very slow
• Severely decreased appetite. Shows little or no evidence of being hungry
• Does not cry for food or get excited at feeding time
• If feeding just occurred when baby ‘‘acted hungry’’ then would have severe ‘‘failure-to-thrive’’ Weak cry

Phase 1b   

• No difficulty feeding and growing appropriately on growth curve (9–25 months)
• No longer needs assisted feeding
• Growing steadily along growth curve with normal feeding Normal appetite

Phase 2a    

• Weight increasing without an increase in appetite or excessive calories (2.1–4.5 years) Infant starts crossing growth curve centile lines
• No increase in appetite
• Appetite appropriate for age
• Will become obese if given the recommended daily allowance (RDA) for calories or if eating a ‘‘typical’’ toddler
• diet of 70% carbohydrates
• Typically needs to be restricted to 60–80% of RDA to prevent obesity

Phase 2b   

• Weight increasing with an increase in appetite (4.5–8 years)
• Increased interest in food. Frequently asking ‘‘food related’’ questions
• Preoccupied with food. Very concerned about the next meal/snack (e.g., ‘‘Did you remember to pack my lunch?’’)
• Increased appetite
• Will eat more food than a typical child if allowed
• Will eat food within their line of sight if unattended
• Will become obese if allowed to eat what they want
• Can be fairly easily redirected about food
• Can feel full
• Will stop eating voluntarily

Phase 3      

• Hyperphagic, rarely feels full (8 years - adulthood)
• Constantly thinking about food
• While eating one meal they are already thinking about the next meal
• Will awaken from sleep early thinking about food
• Will continue eating if portion size is not limited
• Rarely (truly) feels full
• Will steal food or money to pay for food
• Can eat food from garbage and other unsavory/inedible sources (e.g., dog food, frozen food, crayons, etc.)
• Typically are not truthful about what they have eaten (i.e. amount and types of food)
• Will gain considerable amount of weight over a short period of time if not supervised (e.g., some individuals are known to have gained up to 20 pounds in one weekend)
• Food typically needs to be locked up. Frequently the child will ask the parent to lock the food if the parent has forgotten Will break into neighbors’ houses for food
• Temper tantrums and ‘‘meltdowns’’ frequently related to food
• Needs to be placed on a diet that is approximately 50–70% of the RDA to maintain a healthy weight

Phase 4      

• Appetite is no longer insatiable (adulthood)
• Appetite may still be increased or may be normal or less than normal
• Previously in phase 3, but now a noticeable improvement in their appetite control
• Can feel full
• Appetite can fluctuate in this phase, but the key component is noticeable improvement in control of appetite compared to when they were younger
• Not as preoccupied with food
• Absence of major temper tantrums and ‘‘meltdowns’’ related to food
• Onset in adulthood. Could be as early as 20s or as late as 40–50s
• Most adults have not gone into this phase and maybe some (most?) never will

 If you would like to read the full paper, contact me and I will send it to you.:

Nutritional Phases in Prader–Willi Syndrome

Jennifer L. Miller,¹ Christy H. Lynn,¹ Danielle C. Driscoll,¹ Anthony P. Goldstone,^1,2 June-Anne Gold,³

Virginia Kimonis,³ Elisabeth Dykens,⁴ Merlin G. Butler,⁵ Jonathan J. Shuster,⁶ and Daniel J. Driscoll^1,7*

1

Department of Pediatrics, College of Medicine, University of Florida, Gainesville, Florida

2

Department of Imaging Services, Hammersmith Hospital, London, England

3

University of California Irvine, Irvine, California

4

Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee

5

Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, Kansas

6

Department of Health Outcomes and Policy, University of Florida, Gainesville, Florida

7

Center for Epigenetics, College of Medicine, University of Florida, Gainesville, Florida

Received 11 September 2010; Accepted 25 January 2011

Letter from America

Joan Gardner writes...

One morning, I woke up and found myself the USA Parent delegate to IPWSO with a life full of new friends and amazing experiences.  How did this happen?!

In December of 1968, our son Larry was born and by March we learned from a pediatric neurologist that he had Prader-Willi Syndrome.  Forty-eight years ago, there was no internet and actually only two medical journal articles which Larry’s doctor withheld for several years despite my complaints that we wanted them..  He was “afraid to scare us”!  Really, an exact quote!

Minnesota, our home state, was the repository of PWS information in the early days.  We can take no credit but the first successful dedicated PWS home was founded here for 15 residents by determined parents who collected donations at an exploratory meeting.  They gathered $15 and went to work.  Marge Wett also led the USA national board for 14 years out of her house here and the first and fourth national conferences were in Minnesota.

Somehow, as energy had slowed down in the older families, Jim was elected president at a PWSA of MN meeting that he had not even been able to attend.  The serving president had just discovered that his daughter had Angelman’s Syndrome not PWS (there was no PWS specific genetic testing in those days).  We began gathering and networking our Minnesota families.  We had a pool of names and old attendance sheets in a tin box that still smelled of old cigarette smoke.  Jim also served as treasurer of PWS USA for many years.  We became devoted attendees of the USA annual conferences where we learned all the new research and management advice, such as it was at the time.   Still there was no internet.

Fast forward to 2001, as complete amateurs, we are hosted a combined IPWSO and PWSA USA conference in Minnesota.  There were 1250 attendees: over 200 scientists, 120 professional caregivers, 300 people with PWS including babies and adults (and required 100 volunteers a day!) and 500 plus parents.  We had no staff and little experience but an amazing cadre of volunteer friends and truly expert international program chairs.  I still cringe when I enter the conference hotel but it was a huge success and even provided funds to MN, USA and IPWSO for future programming.  We were very lucky!

 

 

Larry and his best friend

IPWSO has taken us to Italy, Romania, Taiwan, New Zealand, Cambridge and of course Canada.  Attending an international or regional conference is an incredible experience and worth every extra effort.  There are scholarships if one needs financial help to attend.  If you can afford it, contributing to someone else’s experience is just as rewarding.  PWS conferences are unique.  The experts come to share with each other in order to advance PWS knowledge and management.  Even more amazing, they come to share their time openly with us, the families and our children.  Informal encounters in the hall, lobby or meeting breaks are times to connect with them.  They welcome us and no one is too important to spend time with an interested family.

Larry with the biggest fish!

Remember, if you choose to host a conference, IPWSO will help as best it can to assist with expertise and experts.  One physician even learned Spanish to be able to talk directly with families at a South American regional conference!  However, IPWSO can only help as much as funding permits.  As you balance your busy life, please make a donation to IPWSO a priority if you can.  Perhaps, you have family or friends who care about your child and would like to show this with a gift to IPWSO.  Right now, all new gifts will be doubled with matching money from a generous foundation.  This is an opportunity to help others receive a diagnosis, learn how to care for their child,
receive information in their own language, attend a conference, or even put on a program for the first time.   Sharing together is what has brought us to this extraordinary level in Larry’s 48 years.  Let’s keep this going!

If you care to donate to IPWSO, just click on the iDonate button above.  You donations will be in Euros and will be matched by the KB Anderson Trust until the end of this year.  We are so grateful for your donations which help our work around the world!

PWS Clinics - summary from Toronto Conference

(We asked for comments from some of our professionals attending the IPWSO Conference in Toronto recently.  This summary comes from Georgina Loughnan, IPWSO Board member and Chair of our Famcare Committee.  Two reports of multidisciplinary clinics for people with PWS who some interesting statistics including the mean death rate, sexual activity and relationships, dietary management and asks the question "Why are there not more clinics around the world?"


PWS Clinics –IPWSO Conference Toronto 2016 Scientific Session
 
Dr Laura de Graaff (internist-endocrinologist) – Rotterdam

Multidisciplinary outpatients clinic for adults with Prader-Willi syndrome

THE ROTTERDAM EXPERIENCE

Healthcare Improvement Programme was supported by Pfizer lead to the establishment of this clinic at the new Erasmus Medical Centre which provides research, education, pediatric and adult care.
The multidisciplinary team includes: an endocrinologist, dietitian for mentally disabled, a behavioural specialist, a physician for Mentally Disabled and an Outpatient Assistant. Other specialists accessible for referral include cardiologists, neurologists,  ophthalmologist, psychiatrists, orthopaedic surgeons, gynaecologists and urologists.

Established to provide: expert care and support of patients with PWS; support for caregivers; research; education of other medicos and nurses.

Each client has a personal health care plan and SOS Alert Cards created for them.
61 clients seen within the first year of the clinic – 66% with Deletions; 31% with UPD; 3% Imprinting Centre Defects

Online questionnaire used for patient admission – 25 questions
Client status
•    Residential:  65% in non-specialised residential homes; 5% in PWS specialised homes; 20% with family
•    Medications: Vitamin D 59%; antipsychotics 17%;  calcium 20%; statins 9%; diabetic – Insulin 6%/Tablets 6%; GH 30%; androgens male 68%:female 50%; thyroid 15%; hydrocortisone stress dose 29%.
•    Exercise: 30-60 minutes per day 44%
•    Diet: 25% not on a diet; 30% use Happy Weight Dot diet
•    Untreated hypogonadism: males 30%; females 50%
•    Scoliosis in 73% of patients
•    20% in a relationship (33% sexually active)

Patients and parents very pleased to have OPC with experts in one team & email and phone accessibility.






A Prader-Willi Syndrome Clinic – is it worth the effort?

Georgina Loughnan (physiotherapist) PWS Clinic Sydney, Australia
 
Review of a public hospital adolescent and adult PWS clinic that has been in running  for 25 years
Clinic started with 1 client at 1 half session per month, in an existing multi-disciplinary  Endocrine Staff currently include- endocrinologists, nurse, 2 dietitians, physiotherapist

87 genetically diagnosed clients have been seen: 46 Male; 41 Female – 58.6% with Deletions
Current mean age: 31.7 years. Six clients are 50 years or older

Mean age of deaths 1991-2001 – 31.1 years; mean age of deaths 2002-2016:  37.8 years

44% of clients have a BMI of ¬¬> 40 kg/m2

In 2015 the clinic evaluated the service provided by surveying the parents and caregivers of attending clients. The highest rated “Perceived Benefits of the Clinic” were Ongoing Support – 89%; Lifestyle Advice 80%; Group Programme 71%.

The “Perceived Effective Management Strategies for Weight Loss” of most importance were Restrictive Practices 89%; Consistent Management 89%; Medical Management 80%

Managing a Clinic for people with PWS has highlighted  several key points:
1) the need for improved of PWS awareness amongst medical and paramedical staff/ guardianship boards/ all service providers/educators/community workers and government funding bodies.

 2) the importance of home based exercise for effective weight loss

 3) the important role that appropriate PWS residential care plays in the health and longevity of clients with PWS

Unexpected benefits from the clinic have been identified as
1) being a powerful resource for others who require information and support for the care of someone with PWS - from families to funding bodies and other professionals. The ability to implement hospital inpatient policy 
2) the comfort provided for people with PWS
3) the strength of medical advocacy 4) the reduction of parent and caregiver burden, by the clinic being the “authority figure” and “scapegoat” for clients.

Negatives of a public hospital clinic: - many people who do not understand PWS / shared departmental waiting rooms / the presence of hospital food –  cafeterias, inpatient food trolleys / hospital codes of behaviour .

What helps to run a PWS clinic – support staff/ flexible  job description / stepping outside the square / regular contact with parents and caregivers / other PWS resources / passion for working with people with PWS!

Worldwide issue, including in Australia  - the need for more public hospital PWS clinics.