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小胖威利的胃肠道问题：安妮 沙伊曼博士

胃肠道症状有多常见？

早期喂养困难的婴儿是很常见的

频繁的反流症状和不能呕吐的报告

注：小胖患者对疼痛有很高的耐受性，其症状的严重程度可能被忽略。

小胖成人患者的发病率

大约30%：由于慢性咳嗽导致的呼吸问题

50%：睡眠问题

25%：糖尿病

30%：消化问题

20%：抓挠皮肤

治疗可缩短术后鼻饲/胃管时间

指出：在接受职业治疗或物理治疗的儿童中，需要使用鼻饲的天数从230天减少到40天。

营养：对补充膳食的儿童，天数从90减少到42。

如果两者都做到了，天数则从42下降到38。

成人和儿童小胖患者的吞咽问题

在2015发表的一项研究中，, 97%的成年人在食道中残留液体，即使病人认为都很清爽干净。

不管有多少残留物，没有一个参与者能感觉得到的。

另一项研究正在进行中。

窒息/小胖患者

2008研究着眼于小胖儿童患因窒息而死的患病

40%的家庭有窒息病史。

窒息被列为死亡原因的8%

大多数是年轻人。

92%是男性

窒息的因素

粘稠的唾液

咽肌无力

食物窃取行为

反流使食道不能正常工作。

窒息的干预

学习海姆利克氏急救法

教小胖成人和儿童患者当他们意识到窒息时，如何让别人对自己进行急救。

监督用餐

假期特别监管

用餐的节奏

咀嚼的提示

节奏和方法：吃一口食物，喝一口水。

小胖患者的便秘频率

在发表的研究中，21例小胖患者与30名健康志愿者相比

研究包括问卷调查、直肠检查和直肠大小测量。

在小胖患者中：47%例大便每两到三天，它被定义为便秘；37%稍硬和32%很硬的大便

两组间直肠直径及拉出时间无明显差异。

便秘的情况

发育迟缓

稀便减少

未完全治疗的甲状腺功能减退

缺乏良好的如厕姿势

注：需要警惕的是小胖患者中如果伴有严重腹痛和腹胀的便秘问题，急诊室的医生会提议他们要进行外科或胃肠道的咨询。

胃肠排空评价

在一项研究中，在6例小胖患者中，有4例患者在饭后胃排空延迟或异常。他们报告说，尽管四小时后他们的胃里仍有40%的食物，但他们仍然感到饥饿。

胃扩张的可能性

当吃饱后继续吃导致胃撑大是一种风险。

这很难诊断。

这可能发生在例如节假日前后改变日常饮食之后。

症状包括：腹胀、呕吐、嗜睡、食欲不振。

如果出现这种情况，患者应该时行X射线来治疗撑大的胃

目的是让胃舒缓。

有时可以在家里用清水来完成。

减压必须在医院进行。

危险的扩张

胃坏死

病人死于败血症或其他并发症

需要胃切除

肥胖外科手术

没有广泛应用于小胖患者

方法是创建一个“旁路”，使肠道减少食物通过

或使胃变小

医生还把球囊放入胃部减肥5年

小胖患者开始在五年内发胖

随着时间的推移，这个方法的效果降低了。

小胖患者并发症的发生率比一般人群高

袖状胃切除术成果和小胖患者

使胃更小的过程。

14 小胖患者改善过程：体重指数，糖尿病，睡眠呼吸暂停。

袖状胃切除术和小胖患者的长期效果

2016研究者在沙特阿拉伯跟踪随访五年24例小胖患者

患者平均年龄10.7岁。

所有人都有睡眠呼吸暂停。

三分之二的患者胆固醇或血脂异常。

一半人有高血压

25%出现糖尿病。

没有人有生长激素治疗。

甲状腺或肾上腺无任何问题。

袖状胃切除术和小胖患者的长期效果续

体重指数最终增强

睡眠呼吸暂停的改进

血脂改善40%的患者

45%的患者血压改善。

没有人有糖尿病。

无并发症发生。

注：结果导致怀疑其他医生在小胖患者群体的数据解读过于谨慎

研究更新

为期9个月在约翰霍普金斯大学做修正的阿特金斯饮食法和行为研究

观察期为一至四周。

节食四个月，停止节食四个月。

10-15克净碳水化合物。

6岁至12岁的儿童。

体重指数至少在第75百分位。

排除标准包括:食物过敏，高胆固醇，糖尿病。

修改了阿特金斯饮食与行为研究:迄今为止的进展。

七个孩子登记在册

五个女孩,两个男孩

四人完成了饮食试验。

两个人仍在节食。

一个中途舍弃

改良阿特金斯饮食与行为研究:初步结果

降低项:胰岛素水平，血红蛋白A1Cs，甘油三酯。

增加项:胆固醇和低密度脂蛋白。

保持体重了

看护人报告说，已经恢复正常饮食的儿童的行为和注意力持续时间发生了显著变化。

小胖威利的双微生物组研究

贝勒大学医学院

10个有双胞胎和多个妊娠的家庭。

已经收到7个家庭的样品。

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原文

GI Issues in PWS: Dr. Anne Schliemann

How Common Are GI-related Symptoms?

Early feeding difficulties are very common in infants with PWS

Frequent reports of reflux symptoms and inability to vomit

Note: Patients with PWS can have a very high tolerance for pain, and the severity of their symptoms may be overlooked.

Symptom Prevalence Among PWS Adults

About 30 percent: respiratory problems due to a chronic cough

50 percent: sleep problems

25 percent: diabetes

30 percent: digestive problems

20 percent: skin picking

Therapy Decreases NG/G tube time

PT/OT: In children who had occupational or physical therapy, their number of days requiring an NG tube dropped from 230 to 40 days

Nutrition: For children whose diet was supplemented, the number of days dropped from 90 to 42

Both: If both were done, the number of days dropped from 42 to 38

Swallowing Issues Among Adults and Children with PWS

In a study published in 2015, 97 percent of adults had fluid left in the esophagus even when the patient thought everything was clear

None of the participants could feel the residue, regardless of how much there was

Another study is under way

Choking/PWS

2008 study looked at the prevalence of choking in children with PWS who had passed away

40 percent of families reported history of choking

Choking listed as cause of death in 8 percent of cases

Majority were young adults

92 percent were male

Choking Factors

Thicker saliva

Weaker pharyngeal muscles

Food-stealing behavior

Reflux that made the esophagus not work as well

Choking Interventions

Learn the Heimlich maneuver

Teach children and adults with PWS to recognize when they’re choking, how to let someone know and how to perform the Heimlich on themselves

Supervision of meals

Special monitoring during the holidays

Pacing of meals

Chewing prompts

Pace and chase: take a bite of food, take a drink of liquid

Frequency of Constipation in PWS

In a published study, 21 patients with PWS were compared against 30 healthy volunteers

Study included a questionnaire, rectal exam & rectal size measurement

In the PWS patients: 47 percent had stools every two to three days, which is defined as constipation; 37 percent reported straining and 32 percent had hard stools

There was no difference in rectal diameter or transit time between the two groups

Constipating Conditions

Developmental delay

Reduced fluid volume

Hypothyroidism that isn’t fully treated

Lack of good toileting posturing

Note: There is a Constipation Alert for ER doctors to call for a surgical or GI consultation if there are significant issues with abdominal pain and distension in patients with PWS.

GI Emptying Evaluation

In one study, 4 out of 6 patients with PWS had delayed or abnormal stomach emptying after meals

They reported being hungry even though they had about 40 percent of the food still in their stomachs after four hours

Potential for a Dilated Stomach

Gastric dilation is a risk for patients who keep eating when their stomachs aren’t empty

It's difficult to diagnose

It can happen after a change in diet, for instance around the holidays

Symptoms include: belly distention, vomiting, lethargy, lack of appetite

If those red flags are present, patients should have Xrays

Treatment for a Dilated Stomach

Goal is to get the stomach to relax

Can sometimes be accomplished at home with clear liquids

Decompression must be done at the hospital

Dangers of Dilation

Necrosis, or “death” of the stomach

Patient death by sepsis or other complication

Need for resectioning of the stomach

Bariatric Surgery

Not widely done for PWS

Approach is to create a “bypass,” leading to less intestines for food to pass through

Or to make the stomach smaller

Doctors have also put a balloon in the stomach

Weight Loss 5 Years Post Procedure

PWS patients started gaining weight back within five years

Over time, procedure is less effective

Complication rate is higher in PWS patients than the general population

Outcomes of Sleeve Gastrectomy and PWS

Procedure makes the stomach much smaller

14 PWS patients reported

Patients experienced improvements in: BMI, diabetes, sleep apnea

Long-term Outcomes of Sleeve Gastrectomy and PWS

In 2016 study, researcher followed 24 PWS patients in Saudi Arabia for five years post procedure

Mean age of patients was 10.7 years

All had sleep apnea

Two-thirds had abnormal cholesterol or lipids

Half had high blood pressure

Diabetes was present in 25 percent

No one had growth hormone therapy

No problems reported with thyroid or adrenal glands

Long-term Outcomes of Sleeve Gastrectomy and PWS (continued)

BMI eventually increased

Sleep apnea improved

Lipid panel improved for 40 percent of patients

Blood pressure improved for 75 percent

No one had diabetes

No complications were reported

Note: Results have led to skepticism among other physicians in the PWS community who have advised cautious interpretation of the data.

Research Updates

PWS Modified Atkins Diet and Behavior Study

Being done at Johns Hopkins University

9 months

Observation period before of one to four weeks

Four months on the diet, four months off the diet

10-15 grams of net carbs

Children between 6 and 12 years old

BMI in at least 75th percentile

Exclusion criteria include: food allergies, very high cholesterol, diabetes

PWS Modified Atkins Diet and Behavior Study: Progress to Date

Seven children enrolled

Five girls, two boys

Four have completed the diet trial

Two are still on the diet

One had to leave

PWS Modified Atkins Diet and Behavior Study: Preliminary Results

Decreases in: insulin levels, hemoglobin A1Cs, triglyceride

Increase in: cholesterol & LDL

Weight maintenance achieved

Caretakers report marked change in behavior and attention span for children who have returned to a normal diet

Twin Microbiome Study in PWS

Baylor College of Medicine

10 families with twins and multiple gestation

Samples have been received for seven families

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