Niemann-Pick+Disease+Type+C

Please use this wiki to compile resources, links, and files related to your final project case study. You may use and organize this wiki however you wish, but please note that the following items are required:
 * Information about the child's diagnosis
 * Evidence-summary table and links to articles, websites, abstracts, etc (from the Nov 16 EBP lab) on a clinical question of your choice (related to the child's diagnosis, condition, limitations, and/or restrictions)
 * Educational material of your choice (such as a brochure, home exercise program, inservice presentation) related to the child's diagnosis, condition, restrictions/limitations

Remember, you MAY NOT include any identifying information on this page. Do not include the child's name or birth date, any personal information about the child, photographs or video of the child, or the WHO-ICF model completed about the child.

**Niemann-Pick Disease Type C**

=
Niemann-Pick disease is a progressive disease of lipid accumulation in the liver, spleen, and brain that causes organ enlargement. Lipids, fatty substances, and proteins are usually broken down into smaller components to provide energy in the body. However, in Niemann-Pick, large harmful quantities of these substances accumulate in the body. This leads to the deterioration of the nervous system. There are three types of this disease. Type A and B are caused by absent or defective acid sphingomyelinase (ASM) which causes lipids to not be broken down and therefore buildup in the liver, spleen and brain. Type C is a genetic mutation that also causes lipid accumulation in these organs. This disease occurs in 1/120,000 live births. ======

 ** Symptoms/Problems **

Sudden loss of muscle tone (cataplexy)

Seizures

Brain deterioration

Eye problems (inability to rapidly move eyes up/down)

Learning problems

Increased sensitivity to touch

Dystonia

Sleep disturbances Difficulty swallowing and eating

Recurrent pneumonia

Gait problems

Falls/Clumsiness

** Diagnosis **

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 14.6667px;">Since there are highly variable symptoms among those children with Niemann-Pick, diagnosing the disease can be hard. Some tests that may be done are a skin biopsy to look for changes in the storage and movement of cholesterol, DNA tests to look for mutations and brain scans using an MRI.

<span style="font-family: Arial,Helvetica,sans-serif;">** Treatment **

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 14.6667px;">There is currently no cure for Niemann-Pick disease. Children usually die from respiratory infection or progressive neurological loss. Chest physical therapy can help to reduce the effects of recurrent respiratory infections. Children with Type C are often put on a low-cholesterol diet and/or cholesterol lowering drugs. Physical therapy is an important part of treatment to help maintain mobility as long as possible.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 14.6667px;">Educational Handout for Parents <span style="font-family: Arial,Helvetica,sans-serif; font-size: 14.6667px;">

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">General Information Websites
<span style="font-family: Arial,Helvetica,sans-serif;">[]

<span style="font-family: Arial,Helvetica,sans-serif;">General review of Niemann-Pick type C: <span style="font-family: Arial,Helvetica,sans-serif;">[].

<span style="font-family: Arial,Helvetica,sans-serif;">Website created by the National Institute of Health that gives an overview of Niemann-Pick, treatment for the illness, tests to diagnose, and other important information. <span style="font-family: Arial,Helvetica,sans-serif;">@http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002187/

<span style="font-family: Arial,Helvetica,sans-serif;">Official website for the National Niemann-Pick Disease Foundation (NNPDF). Gives disease information, current research about Niemann-Pick, and has upcoming events and fundraising. <span style="font-family: Arial,Helvetica,sans-serif;">@http://www.nnpdf.org/index.html

<span style="font-family: Arial,Helvetica,sans-serif;">Website created by the National Institute of Neurological Disorders and Stroke (NINDS) that has information on types, diagnosis, prognosis, and research for Niemann-Pick. <span style="font-family: Arial,Helvetica,sans-serif;">@http://www.ninds.nih.gov/disorders/niemann/niemann.htm

<span style="font-family: Arial,Helvetica,sans-serif;">This link is a resource containing information about pathophysiology, treatment, and testing for Niemann Pick Type C. Some of the content may be too advanced for a patient’s family, but it is a good resource for PT's. This link also provides current citations (2007 or newer) to for all of its information. <span style="font-family: Arial,Helvetica,sans-serif;">[]

Videos Video of Dr. Marc Patterson, a pediatric neurologist at Mayo Clinic, discussing Niemann-Pick Type C media type="youtube" key="LKgQVz__-hM" height="315" width="420"

Video of how Niemman-Pick Type C affects the body media type="custom" key="11399312"

Information on research on Niemann-Pick Type C from the Ara Parseghian Medical Research Foundation. This foundation was created by former Notre Dame football coach Ara Parseghian, who had 3 grandchildren with Niemann-Pick Type C. @http://www.parseghian.org/

Video of Ara Parseghian and Notre Dame Dean of College of Science Greg Crawford. Discusses Niemann-Pick Type-C and a bike ride done by Crawford and his wife to help raise awareness for the illness. media type="youtube" key="P20F2zAOPA0" height="315" width="560"

This link contains a 30 minute video about a brother and sister with Niemann Pick type C. This video covers everything from these child’s lives at home, school, physical therapy (13:40 mark in video) and research being done at Notre Dame. This video is very long, but you are able to get a glimpse of their functional levels and deficits, assistive devices and get a glimpse of physical therapy for this disease. []

and Conventional Chest Physiotherapy in Hospitalized Patients with Cystic Fibrosis || 50 patients with cystic fibrosis (CF) suffering from an acute pulmonary exacerbation || Randomized control trial comparing high frequency chest compression (HFCC) using a vest to chest physical therapy (CPT) for 14 days; average ages in the groups were 22.9y and 18.0y, respectively. Both groups received treatment for 30 minutes, 3x/day. The HFCC treatment sessions consisted of 6 different frequency periods, ranging from 6-19 Hz. The CPT group received standard percussion and postural drainage therapy. || HFCC had significantly more wet sputum production within 1 hour of treatment compared to CPT. Other than this finding, both HFCC and CPT groups had significant improvements in sputum clearance, pulmonary function tests (PFTs), and oxygen saturation, but there were no significant differences between groups in these measures. HFCC and CPT are both safe and effective treatments for clearing pulmonary secretions. || Martinez, Wanner Rubin || Chest, 113, 1019-1027 || 1998 || Effect of High-Frequency Oral Airway and Chest Wall Oscillation and Conventional Chest Physical Therapy on Expectoration in Patients With Stable Cystic Fibrosis. || 14 Outpatients with stable CF || Compare randomized alternating treatments of two different modes of oral airway oscillation, two different modes of chest wall oscillations and traditional chest physical therapy, to determine the difference in amount of sputum expelled and changes in pulmonary function tests. || No statistical differences were found between any treatment. Oral airway oscillations, chest wall oscillations and chest physical therapy all increase the levels of sputum expelled. No treatment had an effect on pulmonary function tests. ||
 * Is chest physical therapy (with or without mechanical assistance) an effective treatment in paitents with respiratory muscle weakness?**
 * **AUTHOR** || **SOURCE** || **DATE** || **TITLE** || **SAMPLE** || **METHODOLOGY/ MAIN IDEA** || **RESULTS** ||
 * Arens, Gozal, Omlin, Vega, Boyd, Keens, Woo || American Journal of Respiratory and Critical Care Medicine, 150, 1154-1157 || 1994 || Comparison of High Frequency Chest Compression
 * Homnick, Anderson, Marks || Chest, 114, 993-997 || 1998 || Comparison of the Flutter Device to Standard Chest Physiotherapy in Hospitalized Patients With Cystic Fibrosis: A Pilot Study || 22 CF patients (8-44y) suffering from an acute pulmonary exacerbation || Using alternating group assignment, the authors compared a flutter device to CPT for an average of 8.9 days while the subjects were hospitalized. The CPT group received standard CPT for 30 minutes, and the flutter group received treatment for 15 minute sessions, each 4x/day throughout their hospitalization. || No significant differences were found between groups for pulmonary function tests and clinical score. Within-groups, both groups showed significant improvements for clinical scores and PFTs, except for TLC and FEV1/FVC for the CPT group and TLC for the flutter group. The flutter and CPT are safe and effective treatments for clearing pulmonary secretions. The flutter is a more cost effective treatment. ||
 * Scherer, Barandun,
 * Bach || Chest 104.5: 1553 || Nov. 1993 || Mechanical insufflation-exsufflation: comparison of peak expiratory flows with manually assisted and unassisted coughing techniques. || 16 ventilator patients diagnosed with a neuromuscular disease. Mean age of 51 and were using ventilator for a mean of 21.8 hours a day living in the community. And 5 acute care participants mean 28.6 years old and on ventilation 24 hours per day. || Peak expiratory flow rates during cough were compared for unassisted coughing, manually assisted coughing, and mechanically assisted coughing. Pre-cough inspiration assistance was allowed if subject could not reach 1-1.5L tidal volume. || Both manual and mechanical assistance increased flow rates above unassisted. Subjects reported best outcomes with combined mechanical and manual assistance. Mechanical assistance increase more than manual assistance. ||
 * Sivasothy, Brown, Smith, and Shneerson. || Thorax 56: 438-444. || 2001 || Effect of manually assisted cough and mechanical insufflation on cough flow of normal subjects, patients with chronic obstructive pulmonary disease (COPD), and patients with respiratory muscle weakness. || 9 normal subjects, 8 with COPD, and 12 with respiratory muscle weakness due to neuromuscular (4 with, 12 without scoliosis). || Flow rates and intra-abdominal and intra–thoracic pressures were compared during baseline, manually assisted cough, mechanically assisted cough, and combination mechanical and manual assistance, performed in random order. || Manual, mechanical, and combination assisted coughing improved expiration in subjects with respiratory muscle weakness without scoliosis, but not with scoliosis. None of the 3 techniques improved COPD flow rates. ||
 * Schwake, Ragette, Teschler, Voit, Mellies, || Pediatric Pulmonology 41:551–557 || 2006 || IPPB-Assisted Coughing in Neuromuscular Disorders || 29 patients with various neuromuscular diseases, age rang 6-20. Five patients had Duchenne muscular dystrophy, 7 had congenital muscular dystrophy, 8 had spinal muscular, 2 had hereditary sensorimotor neuro- pathy,1 had late-onset Pompe’s disease, and 1 had nemaline myopathy. || Three consecutive steps were explained: 1) hyperinsufflation using the IPPB device, 2) glottis closure, and 3) final cough. Two days of intensive training with 5–6 training sessions of 10 min. Peak cough flow and lung volumes were measured before and after the use of the IPPB device. || IPPB device is an effective technique that almost doubled peak cough flow in most children with advanced NMDs, even severely affected children were about to improve and it was shown that this technique can be used with children under age 10. All lung volumes also improved. Do not need caregiver to perform if they can hold two tubes, can be carried out during everyday activities ||