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Notes for JAMES CORNEALIS JINKENS:
Jimmie was diagnosed as having Prader Willie Syndrome at approx. age 11/2.He was seen at University Hospitals in Iowa City, Ia. from 6 mos. age until age 32 on a varily regular basis.He then was declared an adult and was told to come back when he had problems but it would not be necessary to follow him on a regular basis.Jimmie had several surgeries at Iowa City Hospitals which included muscle biaupsy twice to determine if he had muscles and if they were developing, insertion of a Harrington Rod in his back to hold it straight after his bones were through growing at age 17.From age approx. 5 years Jimmie wore a brace that went from his hips to his neck to try to keep his spine as straight as possible until he was through growing and the Harrington Rod could be inserted in his spine to hold it straight.He wore a full body cast for none months and only had it changed one time during that nine months.Jimmie had alternating vision in his eyes and did have surgery on his eyes two times to attempt to straighten them as it appeared he was cross eyed.He would look at you with one eye and the other eye would not be in focus.He did use both eyes and had good vision in both eyes when he wore glasses. Jimmie also had a gastric bypass surgery at approx, age 15 as he was much overweight and the doctors recommended it to prolong his life as much as possible.Jimmie broke the large femor in each leg at two different times while riding his bicycle and did have surgery each time in Iowa City Hospitals to repair them.It was also a major surgery.Jimmie worked at the Sheltered Workshop in Montrose, Iowa which was for the handicapped and did enjoy it very much.At age 35 it was noted that Jimmie had sleep apena and was causing him great difficulty.He was seen at University Hospitals in Iowa City and it was determined that he should have a traceotomy performed to allow him to breath properly when he slept.The doctors had performed a sleep study and also determined that he already had some congestive heart failure.The surgery was performed and Jimmie was brought home with oxygen, a suction machine and a bi-pap machine that assisted him breath properly when he slept as he still had some sleep apena after the surgery was performed.About 10-12 weeks after coming home after surgery he returned for a check up and was given a Jackson Trach to use, which was a metal trach that had a plug that could be used in it so that he did not have to use his finger to close the opening when he wanted to talk.It was determined that he had problems breathing with it plugged in the daytime, so he was instructed to leave the plug out so that he could breath more freely.On Dec 21, 1995 he returned to Iowa City for another sleep study which showed that his oxygen level remained high when he was sleeping and that the minor sleep apena that he had at this time was not caused from the main brain stem.
SUMMARY OF OUR OBSERVATION ON OVER 25 CHILDREN
WITH THE PRADER-WILLI SYNDROME
A higher incidence of this condition in males as compared to females, indicated in the medical literature, has been noted in our population.However, it is our impression that this condition is being diagnosed wth an increased frequency in females, as it is becoming better known.
We had an early inpression that children with this condition tend to"cluster" as to the the time of the year they were born (more of them seem to be born in winter-time );this early impression has not been confirmed subsequently, but we would like to get more precise information.From the point of view of understanding the etiology (basic medical reason) of the occurrence of the Prader-Willi syndrome, it is of crucial importance to know whether or not there is a seasonal variation in the occurrence of birth of individuals with this condition.Knowledge of the birthplace of such individuals is of importance for similar reasons; it will help indicate if there are any important enviromental factors playing a role in the occurrence of this condition.At the present time, we do not think so.Most individuals with this condition seem to be located in large urban areas, but it is our contention that the reason is related to availability of diagnostic centers in such situations.
With respect to the living situation of Prader-Willi individuals, it is our inpression that a large number of older individuals are staying in residential school placements, group homes or institutions.It appears that this situation is more closely related to the individual's physical condition and behavioral characteristics rather than to basic mental and social competence.
II. Family History
Our tentative impression is that the Prader-Willi syndrome is a condition occurring mainly in Caucasians (all our patients have been white) , but we have recently heard of at least one Black youngster who has been diagnosed with this condition.Knowledge of the racial background of individuals with this condition is therefore of great interest.
It is our impression that the ages of parents of Prader-Willi syndrome is similar to that of the general population at the time of birth of their children.However, if there is an increased maternal or pateral age, this type of information is of great significance as it relates to the etiology of the syndrome.
A recent article by Clarren, et al., from this department, indicates that there is a higher incidence of "Prader-Willi like" symptons in the families of such individuals (to be published in THE AMERICAN JOURNAL OF DISEASES OF CHILDREN in the near future) .If this is confirmed (information obtained from the enclosed questionaire would help greatly) , it would be helpful again in pinpointing the basic etiology of the condition.
III. Pregnancy and Birth History
Our preliminary impression is that there is nothing particularly unusual about the mother's labor when giving birth to a child with the Prader-Willi syndrome, but it appears to us that there might be a higher incidence of breach birth and birth by cesarean section.We hav encountered a few instances of difficulties following birth (need for resuscitaion, oxygen administration, etc.) , but we are at the present time unsure whether this is in excess of what is encountered in the general population.
Our impression is that ALLchildren who are diagnosed as having the Prader-Willi syndrome have problems with hypotonia early on and that a poor suck is an invariable result of this problem.Many of our parents have described an "unusual cry" in their infants, but we do not know if this is significant.
Our preliminary information would indicate that there is no difference between birth measurements (weight, length and head circumference) in these children as compared to unaffected babies. Further information to confirm this impression would be helpful, however.
IV. Early Feeding History
None of our children with confirmed Prader-Willi syndrome have been successfully breastfed.All of them have had early feeding problems.A great majority needed to be gavage fed, some got by using special nipples.We have almost consistently encountered an early history of lack of interest in feedings and food, but at the age at which the Prader-Willi child seemed to become "normal" with respect to feeding has varied greatly.It is our tentative impression that these children rapidly move from being abnormally disinterested in feeding into a stage where they become preoccupied with food and feeding, and start overeating.At this time, it would be helpful to know how many parents noted a stage of reasonably normal attitudes and behaviors with respect to food in their Prader-Willi children and how long it lasted.
V. Physical Growth
Obesity and growth retardation (slow growth in height) are, of course well known characteristics in kthe Prader-Willi syndrome.Our information would indicate that some individuals with this condition start out with a height growth within the normal range, but fail to have an adequate growth spurt and end up being unusally short as adults.At this stage, it would be important to get more accurate information to confirm or deny this impression, as this issue is of both theoretical and practical importance especially from an endocrinological viewpoint. Therefore, we would appreciate any information regarding growth patterns on Prader-Willi individuals to further assess this situation.
The incidence of gross obesity in this condition is, of course, well known.At this time, it would be helpful to know the magnitude of this problem and if and how weight control has been successful.
VI. Mental and Social Growth and Developement
Our impression at this time is that slow physical developement is extremely common, expecially in early childhood, in this condition (e.g., the children are late in sitting and walking) .We have also noted that early language developement tends to be slightly delayed.
Our observations of older children with this condition has not shown a consistent pattern.Instead, we have noted a range of strenghts and weaknesses.Information about older individuals with this condition which would indicate particular strengths, especially with respect to vocational training would be helpful to other parents.If a specific pattern of weakness, for example in social learning, becomes apparent, this information would be useful to educators.In our experience, it has been difficult for some parents to find educational programs that fit the special needs of their children.It would be helpful to know what type of program has been most successful.
VII. Medical Information
1.Strabismus is usually mentioned as a symptom in this condition; we have also noted what apppears to be a surprisingly high incidence of myopia (nearsightedness) .
2.We do not think that hearing problems are particularly prevalent in these children, but further information on this subject would be helpful.
3.We have noted the extensive dental caries which have been described in the literature, but feel that this might be associated with abnormalities of the bite.In addition, some of our parnets have commented on the fact that their children have an unusual saliva, and some have complained about odor from the mouth.We aslo feel that voice and articulation problems might be common.
4.Unusual head shape (narrow forehead) has been described in the medical literature; in addition, we have encountered many youngsters with this condition who seem to have facial asymmetry.
5.We have encountered an occasional youngster with congenital heart disease, but do not know if this is a coincidence or if there is an increased number of children with this problem.Not from our own experience, but from what we have heard from others, heart trouble of all kinds, including premature heart attacks, occur in individuals with this condition when the obesity is uncontrolled.Shortness of breath appears to be a symptom associated with excessive obesity.We do not know if chest infection also occurs.
6.We have encountered a surprising lack of stomach symptoms associated with the unusual eating patterns in some of these individuals, but further information is needed on this subject.
7.Small male organs, undescended testes and incomplete adolescent development appear to be the rule, but there is quite a variety as to the prominence of these symptoms.Similarly, the adolescent development in females has been limited, but the degree of feminization has varied.A lot still needs to be learned about the endocrinological aspects of this condition.
8.Small size of hands and feet and scoliosis is mentioned as prominent symptoms in the medical literature about the Prader-Willi syndrome.In addition, we have noted that many of these children have marked swayback.Many also have sustained fractures, often after minor trauma.Many youngsters have a history of congenital hip dislocation.
9.Skin symptoms in the form of a skin picking habit, and easy bruisability have been noted in many of our patients.
10.Diabetes is described in the literature as a common complication; we have not encountered it, probably because of the young age of our children and the fact that most of them have kept the obesity under control.There might be other medical problems that are common in this condition, and it would be helpful if we could start to compile a list of these to share with parents and professionals.
Gorging seems to be an almost universal symptom in our patient population, a large numer also steal and hoard food (and other items) . A small, but not insignificant, number consume unusual food products. Temper tantrums, temper outbursts and preoccupations, expecially with food and food related subjects, seem to be other very common behavioral characteristics in patients known to us.
In our experience, the priority of problems as they are encountered in this condition changes over the years.Physical problems seem to be most important early on, followed by developmental concerns and later by problems of behavior.When the children approach adolescence and later, it is our impression that social concerns become most prominent.We have asked for a list of problems as their priority is perceived by people who deal with these youngsters to help us assess if this impression is valid.
More About JAMES CORNEALIS JINKENS:
Fact 1: Works at Parkridge Workshop - Montrose, Ia.16
Fact 2: Graduated from High School - Special Education -Received his diploma17
Medical Information: Prader Willie Syndrome