Identification of Sleep Disorders in Infants of the Houston Area with Medical, Pediatric Neurology, Pulmonary Problems

Who would argue that normal oxygenation and sleep is important for development?

I came across these articles recently and wanted to share. 

Dr Susarla and I want to do as much as possible to improve the lives of our patients. Sometimes we see patients who have had unrecognized sleep problems for years. Sometimes we see patients who failed adenotonsillectomy and never followed up. 

Sleep apnea is highly prevalent in infants with complex health care needs. It is treatable...if recognized

Take some time to ask about your patient/client's sleep.  Do they look tired? Are they "over-tired" at times? Are they in a high risk group? 

Please let us know how we can help. 

Josh Rotenberg MD

Here is a link to our EEG and sleep study order form 

J Clin Sleep Med. 2014 Nov 15;10(11):1213-6. doi: 10.5664/jcsm.4204.

Comorbidities in infants with obstructive sleep apnea.

Qubty WF1, Mrelashvili A1, Kotagal S2, Lloyd RM3.

Author information

Abstract

STUDY OBJECTIVE:

The clinical characteristics of obstructive sleep apnea (OSA) in infants have been insufficiently characterized. Our aim was to describe identifiable comorbidities in infants with obstructive sleep apnea, which may assist in recognizing these patients earlier in their disease course and help improve management.

METHODS:

This was a single-center, retrospective study involving infants 0-17 months of age with a diagnosis of OSA on the basis of clinical features and nocturnal polysomnography (PSG) at the Mayo Clinic Center for Sleep Medicine between 2000 and 2011. Patients were excluded if they had central apnea accounting for greater than 50% of respiratory events. OSA severity was determined by the apnea-hypopnea index (AHI).

RESULTS:

One hundred thirty-nine patients were included. Based upon the AHI, they were subdivided into mild (AHI <5 30="" 5-9="" moderate="" or="" severe="">10; 40%) categories. Comorbidities included:

• gastroesophageal reflux in 95/139 (68%), 
• periodic limb movements in sleep in 59/139 (42%), 
• craniofacial abnormalities in 52/139 (37%), 
• neuromuscular abnormalities in 47/139 (34%), 
• prematurity in 41/139 (29%), 
• geneticsyndromes in 41/139 (29%), 
• laryngomalacia / tracheomalacia in 38/139 (27%), and 
• epilepsy in 23/139 (17%) of subjects.

 Severity of OSA correlated with prematurity, having a genetic syndrome, or neuromuscular abnormality. 

Multispecialty evaluation was needed for 119/139 (86%).

CONCLUSION:

Comorbidities in infants with OSA differ from those of older children. Based upon the comorbidities identified in our study population, it appears that appropriate management of infants with OSA requires a multidisciplinary approach involving genetics, gastroenterology, pulmonology, otolaryngology, neurology, and general pediatrics.

© 2014 American Academy of Sleep Medicine.

KEYWORDS:

Infant; obstructive sleep apnea; polysomnography; sleep disordered breathing; sleep disorders

J Plast Reconstr Aesthet Surg. 2014 Nov;67(11):1475-80. doi: 10.1016/j.bjps.2014.07.026. Epub 2014 Jul 31.

Screening for obstructive sleep apnea in children with syndromic cleft lip and/or palate.

Silvestre J1, Tahiri Y1, Paliga JT1, Taylor JA2.

Author information

Abstract

BACKGROUND:

Craniofacial malformations including cleft lip and/or palate (CL/P) increase risk for obstructive sleep apnea (OSA). While 30% of CL/P occurs in the context of underlying genetic syndromes, few studies have investigated the prevalence of OSA in this high-risk group. This study aims to determine the incidence and risk factors of positive screening for OSA in this complex patient population.

METHODS:

The Pediatric Sleep Questionnaire (PSQ) was prospectively administered to all patients cared for by the cleft lip and palate clinic at the Children's Hospital of Philadelphia between January 2011 and August 2013. The PSQ is a 22-item, validated screening tool for OSA with a sensitivity and specificity of 0.83 and 0.87 in detecting an apnea-hypopnea index (AHI) >5/hour in healthy children. The Fisher exact and Chi-square tests were used for purposes of comparison.

RESULTS:

178 patients with syndromic CL/P completed the PSQ. Mean cohort age was 8.1 ± 4.4 years. Patients were predominately female (53.9%), Caucasian (78.1%), and had Veau Class II cleft (50.6%). Craniofacial syndromes included isolated Pierre Robin Sequence (PRS) (29.8%), 22q11.2 deletion syndrome (14.6%), Van der Woude syndrome (6.7%), and other rare genetic abnormalities (28.8%). The overall incidence of positive OSA screening was 32.0%. Males were at increased risk for positive OSA screening (P = 0.030), as were non-Caucasians (P = 0.044). Symptoms with the highest positive predictive value for OSA were "others comment on child appearing sleepy" (76.2%) and "stops breathing during the night" (75.0%). Notably, patients with 22q11.2 deletion syndrome were at highest risk for positive screens (50.0%, P = 0.042).

CONCLUSIONS:

Nearly a third of our patients with syndromic CL/P screened positively for OSA (32.0%), highlighting the importance of screening in this at-risk population. Future work will correlate screening results with polysomnograms to help validate these findings.

CLINICAL QUESTION/LEVEL OF EVIDENCE:

Diagnostic, III.

Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

KEYWORDS:

Cleft lip and palate; Obstructive sleep apnea; Pediatric; Questionnaire; Screening

Webinar - Sleep & Down Syndrome from Down Syndrome Research Center at Stanford Univeristy

JOIN US FOR OUR JANUARY WEBINAR

Dr. H. Craig Heller, Stanford University Tuesday, January 29, 10 AM PT / 1 PM ET What can we learn about Down syndrome by studying the neural mechanisms of sleep? Plenty, according to H. Craig Heller, Ph.D., co-director of Stanford's Down Syndrome Research Center.  Dr. Heller, an expert in the area of sleep and a DSRTF grant recipient, joins us for our January webinar to discuss the roles that sleep and circadian rhythm may play in the cognitive impairment that occurs in people with DS. Register now for this free one-hour presentation, then join us on Tuesday, January 29 at 10 AM PT / 1 PM ET to learn what research tells us about the influence of sleep and circadian rhythm on learning, memory, and attention — and what that may suggest for the future of improved cognition. We look forward to seeing you there. The DSRTF Team

Prenatal Whole Genome Sequencing: Just Because We Can, Should We?

Prenatal Whole Genome Sequencing: Just Because We Can, Should We?

ScienceDaily (Aug. 10, 2012) — With whole genome sequencing quickly becoming more affordable and accessible, we need to pay more attention to the massive amount of information it will deliver to parents -- and the fact that we don't yet understand what most of it means, concludes an article in the Hastings Center Report. The authors are current or former scholars at the National Institutes of Health's Department of Bioethics.

Most analyses of the ethical issues raised by whole genome sequencing have been "futuristic forecasting," but the authors conclude that "this is problematic given the speed with which whole genome sequencing is likely to be incorporated into clinical care," as its price falls to under $1,000.

Prenatal whole genome sequencing differs from current prenatal genetic testing practice in ethically relevant ways. Most notably, whole genome sequencing would radically increase the volume and scope of available prenatal genetic data. In contrast with current tests, which identify serious genetic conditions in fetuses at high risk of them, the new tests would likely be used by many more expectant parents and reveal a wide spectrum of genetic traits, including disease susceptibility.

Some of the ethical challenges posed by prenatal whole genome sequencing arise from the uncertainty of what the information means. The function of more than 90 percent of genes in the human genome is unknown and as a result, the article says, "much of the data generated from whole genome sequencing over the next few years (or even decades) will be of questionable utility."

After analyzing the kind of information that whole genome prenatal testing will yield, the authors conclude that most of it would probably not be as helpful as information uncovered by the current categories of prenatal tests. They cited specific areas of concern.

First of all, the quality and quantity of information may augment parents' anxiety. "To the extent that parents now think of their child as a 'clean slate' during pregnancy, the prenatal image of a normal, healthy baby will be dramatically altered by this technology," the authors write. The anxiety over the results and changing views of what is "normal" could lead to an increase in pregnancy terminations.
Apart from reproductive decisions, the authors also foresee whole genome prenatal testing having a negative impact on child rearing. For example, if parents were able to get genetic information suggesting that their child's predicted IQ may be low, they might not strongly encourage and support the child's efforts in school.

Finally, the new technology could increase the tension between the interests of parents and children. Although parents have a strong interest in getting information that informs their reproductive choices, children have a competing interest in not knowing certain kinds of information about themselves -- information that could limit their autonomy as they grow into adulthood.

Given the potential harms from prenatal whole genome sequencing, the authors make four preliminary recommendations......

Web address:      HERE

Drug Shown to Improve Memory in Those With Down Syndrome

ScienceDaily (July 17, 2012) — esearchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life.

"Before now there had never been any positive results in attempts to improve cognitive abilities in persons with Down syndrome through medication," said Alberto Costa, MD, Ph.D., who led the four- year study at the CU School of Medicine. "This is the first time we have been able to move the needle at all and that means improvement is possible."

The study was published July 17 in the journal Translational Psychiatry.


Costa, an associate professor of medicine, and his colleagues studied 38 adolescents and young adults with Down syndrome. Half took the drug memantine, used to treat Alzheimer's disease, and the others took a placebo.

Costa's research team hypothesized that memantine, which improved memory in mice with Down syndrome, could increase test scores of young adults with the disorder in the area of spatial and episodic memory, functions associated with the hippocampus region of the brain.

Participants underwent a 16-week course of either memantine or a placebo while scientists compared the adaptive and cognitive function of the two groups.

While they found no major difference between the groups in adaptive and most measures of cognitive ability, researchers discovered that those taking memantine showed significant improvement in verbal episodic memory. One of the lowest functioning individuals in the study saw a ten-fold increase in memory skills.

"People who took the medicine and memorized long lists of words did significantly better than those who took the placebo," said Costa, a neuroscientist specializing in Down syndrome research. "This is a first step in a longer quest to see how we can improve the quality of life for those with Down syndrome."

Currently, there are drugs that treat the symptoms of medical conditions associated with Down syndrome but nothing to improve brain function.

But in 2007 Costa demonstrated that memantine could improve memory in mice with Down syndrome. He then set out to replicate those findings in a human trial of the drug.
"This is an excellent example of translational science," he said. "We took a drug that worked well in mice and we tested it in humans with positive results."

Although the trial was small, the results could have far-reaching implications. Costa said a follow-up study was needed using a larger group of people with Down syndrome. Another important step will be to pursue studies with younger, school-age participants with Down syndrome. They would have more rapidly developing brains and, since they are in school, would be routinely tested so the effects of the drug could be closely monitored. That could take as little as five years.

Researchers also want to know if memantine can ward off the onset of Alzheimer's disease in those with Down syndrome. The two conditions show striking similarities and researchers are actively exploring how they may be linked. Babies born with Down syndrome, for example, often carry the biological markers for Alzheimer's disease.

"Everyone with Down syndrome will develop Alzheimer's disease pathology by their mid-30s," Costa said. "We would like to know if this drug can slow down or even halt the development of that disease in adults with Down syndrome."

Memantine works by normalizing the function of a glutamate receptor in the brain known as the N-methyl-D-aspartate or the NMDA receptor.

"This receptor plays a central role in memory and learning," Costa said.
Given the small size of the study and the need for more research, Costa stressed that people should not start taking memantine for Down syndrome. Although it has proven safe and well-tolerated by the study participants, researchers urge caution, saying more work needs to be done to determine if this is a viable treatment option.

"Our study is a significant and hopeful sign that certain drugs can enhance the intellectual capacity of those with Down syndrome," he said. "For more than 30 years we have been unable to impact cognition in Down syndrome. Now it appears that we may be able to."

Costa has a major stake in improving the lives of those with Down syndrome, the most common cause of intellectual disability. He has a 17-year-old daughter with the condition.
"For me this research is not merely academic," he said. "It's personal."
The CU School of Medicine's work on Down syndrome has resulted in it being chosen as one of nine national testing centers for a new drug manufactured by F. Hoffmann-La Roche LTD aimed at improving memory in adults with Down syndrome. Costa is the principal investigator of the Colorado center.

He will give a lecture about his latest research July 20 in Washington D.C. at the 2012 Annual Meeting & Clinical Symposium of the Down Syndrome Medical Interest Group -- USA. The conference is being held from 1 p.m. to 9 p.m. at the Marriott Wardman Park, 2660 Woodley Rd. NW.

The other researchers in the study included Richard Boada, Ph.D., Christa Hutaff-Lee, Ph.D., David Weitzenkamp, Ph.D., Timothy A. Benke, MD, Ph.D. and Edward J. Goldson, MD.
The trial was funded by Forest Research Institute Investigator Initiated Grant NAM-58. During the course of this study, Costa was also supported in part by grants from the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
"I also am grateful to the Anna and John J. Sie Foundation, the Linda Crnic Institute and the Coleman Institute for Cognitive Disabilities for believing in my research all these years. This work would not have been possible without their support in these harsh economic times," Costa said.

MORE HERE

Boy with epilepsy to carry flame for the Olympic torch relay

A Hertfordshire boy who has epilepsy with up to 50 seizures a day is to carry the Olympic torch during Sunday's leg of the relay.

Jack Gatehouse, 12, from Hemel Hempstead, also has Down's Syndrome and will carry the flame on the Hatfield leg of its 10-week trip around the UK.

After battling years of medical difficulties his family are pleased to have a happy event on which to focus.

"It's been a massive boost to us," said his father Pete Gatehouse.

"Life is difficult so it's nice to have something positive to look forward to and we have also met a lot of kind people along the way.

"Since it all started we've also realised that we can use the torch afterwards in our fundraising efforts."

Torch attraction

A week after the relay, Jack's torch is set to be a big attraction at an event to raise money to for equipment that will improve his quality of life.

This includes a special wheelchair for a bike, funds to create a 'safe room' with padded walls and floor and a 'talk box' to help him communicate.

It is because of his speech problems that it is hard to tell how Jack is feeling about the part he is going to play in an historic event.

"We can't really gauge how excited he is, Jack has his own agenda, for him it's just another day, but the family are really excited," explained Mr Gatehouse.

Born in 1999, Jack underwent surgery within 18 hours of birth and was confirmed with Down's Syndrome shortly afterwards.

He spent the next three years going in and out of hospital with several respiratory conditions, was diagnosed with epilepsy aged four and was soon having up to 50 seizures a day.

"Jack's quality of life was slowly ebbing away, as the seizures got stronger," said Mr Gatehouse.

"He could be thrown across a room, or off a chair by a powerful seizure, which obviously, put his life at risk.

"Every day was spent picking him off the floor or tending to his bruises where he'd knocked himself about."

Aged 10, a medical team at Great Ormond Street Hospital suggested that brain surgery may help him, but his family then had to make a huge decision.

"We were told that he could die on the table," said Mr Gatehouse.

"It took us ages to decide whether to try to mend him or lose him but in the end we decided to go ahead."

In March 2011, Jack underwent six hours of brain surgery and returned home seizure free, but it did not last.

"For four months it worked and we were "up there", life was great, but then we came back down again, back to the depths of despair," explained his father.

"We were told that the surgery had an 80% success rate, but should it return it would be on a far lesser scale.

"Unfortunately, this wasn't the case for Jack, his seizures returned and they are just as punishing as before surgery."

Today, his seizures go in cycles, where he has a couple of weeks of up to 50 a day, sometimes for as long as 30 seconds each, then weeks of ten a day which is "as few as it ever is".

Read more here

Down Syndrome Treatment Trial

Rivastigmine Study in Adolescents With Down Syndrome (DS Riv)

This study is currently recruiting participants.

Verified March 2012 by Duke University

First Received on March 8, 2010.   Last Updated on March 20, 2012   History of Changes

Sponsor:	Duke University
Collaborator:	Taishoff Family Foundation
Information provided by (Responsible Party):	Duke University
ClinicalTrials.gov Identifier:	NCT01084135

  Purpose

The purpose of this study is to determine if short term use of rivastigmine can improve functional abilities (for example, language, memory, and executive function) in adolescents with Down syndrome.

Condition	Intervention	Phase
Down Syndrome	Drug: Rivastigmine Other: Liquid Placebo	Phase 1 Phase 2

Study Type:	Interventional
Study Design:	Allocation: Randomized Endpoint Classification: Efficacy Study Intervention Model: Parallel Assignment Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor) Primary Purpose: Treatment
Official Title:	A 20-Week Double-Blind Placebo Controlled Clinical Trial to Evaluate the Safety and Efficacy of Rivastigmine in Children (Ages 10-18) With Down Syndrome

Resource links provided by NLM:

Genetics Home Reference related topics: 17q21.31 microdeletion syndrome tetrasomy 18p

MedlinePlus related topics: Down Syndrome

Drug Information available for: Rivastigmine Rivastigmine tartrate

U.S. FDA Resources 

Further study details as provided by Duke University:

Primary Outcome Measures:

• Vineland Adaptive Behavior Scales, Second Edition (Survey Interview Form) [ Time Frame: Baseline & Study termination (Week 20) ] [ Designated as safety issue: No ]
  Indirect (parent report) measure of adaptive function

Secondary Outcome Measures:

• Behavior Rating Inventory of Executive Function-Preschool (Brief-P) [ Time Frame: Baseline and Final (Week 20) visit ] [ Designated as safety issue: No ]
  Indirect measure of executive function

Estimated Enrollment:	40
Study Start Date:	November 2009
Estimated Study Completion Date:	May 2013
Estimated Primary Completion Date:	February 2013 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
Experimental: Rivastigmine- Liquid form At the baseline visit (week 0), the subject will begin rivastigmine treatment at a dose of 0.75 mg bid. This dose will be continued for two weeks and then increased to 1.5 mg bid for an additional eight weeks. At the week 10 safety visit, the dose will be increased to 4.5 mg/day (3.0 mg and 1.5 mg) for an additional 10 weeks. If a subject is unable to tolerate a particular dose, the dose will be lowered to the previously tolerated dose, down to a minimum of 0.75 mg bid. If the subject is unable to tolerate the 0.75 mg bid dose he/she will be dismissed from the study.	Drug: Rivastigmine At the baseline visit (week 0), the subject will begin rivastigmine treatment at a dose of 0.75 mg bid. This dose will be continued for two weeks and then increased to 1.5 mg bid for an additional eight weeks. At the week 10 safety visit, the dose will be increased to 4.5 mg/day (3.0 mg and 1.5 mg) for an additional 10 weeks. Subjects receiving placebo will maintain the same schedule. If a subject is unable to tolerate a particular dose, the dose will be lowered to the previously tolerated dose,down to a minimum of 0.75 mg bid. If the subject is unable to tolerate the 0.75 mg bid dose he/she will be dismissed from the study. Other Name: Rivastigmine-Excelon
Placebo Comparator: Liquid placebo Subjects receiving placebo will maintain matched titration volume increase as treatment arm. The placebo will be matched to liquid rivastigmine in consistency and taste.	Other: Liquid Placebo Subjects receiving placebo will maintain matched titration volume increase as treatment arm. The placebo will be matched to liquid rivastigmine in consistency and taste.

Detailed Description:

This 24 week, double-blind, placebo controlled trial will be completed at the Clinical Research Unit of Duke University Medical Center and at the Kennedy Krieger Institute (KKI). Sixteen evaluable subjects will be enrolled at Duke and 24 evaluable subjects will be enrolled at KKI. The study consists of four visits, a screening visit (-4 weeks), a baseline visit (week 0); a safety visit at week 10, and a final/termination visit at week 20.

The specific aims of this study are to: a) investigate efficacy of rivastigmine tartrate treatment; b) build upon our open-label treatment results of overall function and language improvement in adolescents with Down syndrome (DS) in a double-blind, placebo-controlled clinical trial; and c) investigate other specific cognitive domains that may selectively respond to rivastigmine tartrate treatment.

  Eligibility

Ages Eligible for Study:	10 Years to 17 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

Inclusion Criteria:

1. Correct VERBAL responses for 7/9 of the Expressive One Word Picture Vocabulary Test items.
2. Subject able to put at least 2-3 words together in conversational speech.
3. Subject's speech is understandable to the examiner for the majority of the time.
4. Subjects are in good health and medically stable

Exclusion Criteria:

1. Subject uses sign language as a primary means of communication
2. Subject has a medical history that contraindicate the use of rivastigmine (For example, patients with active seizure disorders, asthma, celiac disease, heart disease or heart rhythm disorders).

  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01084135

Contacts

Contact: Jane Ann McKillop, MS, CGC	919-668-4576	janeann.mckillop@duke.edu
Contact: Blythe Crissman, MS, CGC	919-681-1976	criss004@mc.duke.edu

Locations

United States, Maryland
Kennedy Krieger Institute	Recruiting
Baltimore, Maryland, United States, 21205
Contact: Cathleen Weadon, BA     410-923-9140     weadon@kennedykrieger.org
Principal Investigator: George Capone, MD

Sponsors and Collaborators

Duke University

Taishoff Family Foundation

Investigators

Principal Investigator:

Priya Kishnani, MD

Duke University

  More Information

No publications provided

Responsible Party:	Duke University
ClinicalTrials.gov Identifier:	NCT01084135     History of Changes
Other Study ID Numbers:	Pro00013682
Study First Received:	March 8, 2010
Last Updated:	March 20, 2012
Health Authority:	United States: Institutional Review Board

Keywords provided by Duke University:

Clinical trial Down syndrome adolescents cognitive rivastigmine

Additional relevant MeSH terms:

Down Syndrome Mental Retardation Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Abnormalities, Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn Rivastigmine Cholinesterase Inhibitors

Enzyme Inhibitors Molecular Mechanisms of Pharmacological Action Pharmacologic Actions Cholinergic Agents Neurotransmitter Agents Physiological Effects of Drugs Neuroprotective Agents Protective Agents Central Nervous System Agents Therapeutic Uses

ClinicalTrials.gov processed this record on May 24, 2012

MORE HERE

The use of Ginkgo, Prozac and Focalin as a "treatment" for Down syndrome

Many questions about use of ginko, prozac, methylphenidate for DS.  Can these agents help individuals? Sure. Medications can help for certain co-morbidities. But, it seems to be a big leap to say that all children with DS should be on a 

a "cocktail". JR

The use of Ginkgo, Prozac and Focalin as a "treatment" for Down syndrome

A combination of drugs recommended for depression and attention deficit and hyperactivity disorder is being widely promoted as a "treatment" for Down syndrome. There is no scientific support for the routine use of this protocol by people who have Down syndrome. It is important that families and healthcare professionals are aware of the lack of evidence for safety and benefits from use of this protocol.

doi:10.3104/statements.2106

---

Introduction

Other versions

• Traducción al español
• Deutsche Übersetzung
• Traduction française

We are a group of healthcare professionals, scientists and support organizations who care for and about people with Down syndrome. We wish to provide families with information about a proposed "treatment" for Down syndrome. We recognize that all parents wish to improve the lives of their children with Down syndrome and are interested in treatments, therapies and interventions that can help. We respect these wishes. At the same time, we are concerned that these "treatments" are potentially dangerous.

We are all aware of the advances that have been made in the basic science of memory and cognition in animal models of Down syndrome and are hopeful that these studies may lead to new ways to improve the lives of people who live with the condition.

Physicians and biomedical scientists evaluate potential interventions on the basis of safety and benefits to patients. As we describe below, the "treatments" that the Changing Minds Foundation recommends have not passed either test: there is no information whether these compounds are safe for children, especially young children. Furthermore, there is no evidence to support the claims for benefits that have been made.

Because we care about your children, we strongly urge families to consider this information when considering the claims for this "treatment".

The protocol

An organization called the Changing Minds Foundation is promoting a "new treatment for Down syndrome" that leads to "life changing" results. The "treatment" includes regular doses of Fluoxetine (Prozac), Dexmethylphenidate (Focalin XR) and Ginkgo biloba, Phosphatidylcholine, ‘Body Bio Balanced Oil’ and folinic acid. Some of these substances are associated with potential harmful side-effects. Some of these side-effects are of particular concern for people with Down syndrome and younger children.

Fluoxetine (Prozac) is used to treat depression, obsessive-compulsive disorder, bulimia nervosa and panic disorder. Dexmethylphenidate (Focalin XR) is used for the treatment of attention deficit and hyperactivity disorder (ADHD). Their use should be initiated and monitored by an appropriately qualified physician and should be limited to applications and treatments formally reviewed and approved by appropriate governmental and medical drug regulatory agencies.

Evidence of effects and safety

There is no scientific evidence to support the use of any of this protocol with people with Down syndrome of any age in order to improve memory or any other aspect of cognition. Nor is there any evidence that this protocol is safe for routine use with people who have Down syndrome.

The few studies referenced in support of this protocol are studies of mice. These mice have been engineered to carry extra copies of some genes similar to genes found on human chromosome 21. (People who have Down syndrome have an additional copy of this chromosome). These studies may or may not be good indicators of aspects of memory and learning for people who have Down syndrome. Studies in mice alone are not sufficient to support use of this (or any) protocol in children or adults with Down syndrome.

The Changing Minds Foundation promotional videos do not prove the claims of benefit from the protocol. While the people shown are clearly doing well, none of the individuals shown are functioning beyond the wide range seen in others with the syndrome. Claimed changes following ‘treatment’ could be the result of many factors. Only a controlled trial can give clear evidence of treatment effects.

Scientific progress

Scientific research has improved our understanding of Down syndrome considerably over the past 30 years. This has led to the better healthcare and education received by many people with Down syndrome today. Many scientists and organizations continue to work to improve our knowledge and understanding of effective ways to improve quality of life for people who live with Down syndrome.

Although the pace of further progress is often slow and this can be frustrating, only careful research and rigorous controlled trials can provide the evidence necessary to demonstrate that a therapy is useful and safe.

Further information

Ginkgo

Although bilobalide, a component of Ginkgo Biloba, has been shown to be a GABA antagonist, the activity has been tested only in isolated cells and in only one subtype of GABA receptors. No controlled studies have been done in animals or humans to establish safe doses, or to prove the claimed benefits.

• http://www.nlm.nih.gov/medlineplus/druginfo/natural/patient-ginkgo.html

Fluoxetine (Prozac)

The action of fluoxetine on the growth of new nerve cells seen in one part of the brain of Ts65Dn mice has not been replicated in humans. Published case reports suggest that medications like Prozac used in pregnancy can harm the fetus. The potential impact on developing minds of babies and young children is unknown. A general, or uncontrolled, increase in nerve cell growth is not necessarily a good thing, especially over long periods of time.

• http://www.nlm.nih.gov/medlineplus/druginfo/meds/a689006.html

Dexmethylphenidate (Focalin XR)

The use of stimulant medication should be carefully considered for children with unusual heart structures, which includes about half of children with Down syndrome. Again, use is not recommended for babies or very young children.

• http://www.nlm.nih.gov/medlineplus/druginfo/meds/a603014.html

Folinic acid

Folinic acid supplementation has been shown to have no significant effects for infants and children with Down syndrome on a range of developmental measures.

• http://www.nlm.nih.gov/medlineplus/druginfo/natural/patient-folate.html
• http://www.bmj.com/cgi/content/full/336/7644/594

‘Off label’ use

Families and healthcare professionals should understand that use of the protocol at this time is essentially experimental, with none of the benefits of a controlled trial. Monitoring for adverse effects would be the responsibility of the prescribing physician, with no one collecting that information to determine real risks. Similarly, positive effects would not be collected in a credible way that could be used by healthcare professionals to gauge the value of the treatments.

While there is no current evidence of the treatment's effectiveness for people with Down syndrome, there are significant risks of harm.

This statement is endorsed by the following scientists and clinicians:

Full article here

Target Is ‘Down’ With Down Syndrome: 5 Things Target Said By Saying Nothing At All

Target Is ‘Down’ With Down Syndrome: 5 Things 

Target Said By Saying Nothing At All

January 2, 2012

If you were browsing through this week’s Target ad you may have passed right over the adorable little boy in the bright orange shirt smiling at you on page 9!  And if so, I’m glad!

The reason I’m glad?  Well, that stylish young man in the orange shirt is Ryan. Ryan just so happened to have been born with Down syndrome, and I’m glad that Target included a model with down syndrome in their typical ad! 

This wasn’t a “Special Clothing For Special People” catalog.  There wasn’t a call out somewhere on the page proudly proclaiming that “Target’s proud to feature a model with Down syndrome in this week’s ad!”  And they didn’t even ask him to model a shirt with the phrase, “We Aren’t All Angels” printed on the front.

In other words, they didn’t make a big deal out of it.  I like that....

 read more HERE