Progress in identifying the genetic roots of autism

Scientists say that roughly 20% of autism cases can be linked to known genetic abnormalities, and may more may be discovered. Pinpointing a genetic explanation can help predict whether siblings are likely to have the disorder and even point to new, targeted  treatments. Last week, for example, researchers reported that an experimental drug, arbaclofen, reduced social withdrawal and challenging behaviors in children and adults with Fragile X syndrome, the single most common genetic cause of autism.

Many children with autism have other problems, study says

Many children with autism have interrelated health problems that can have significant impact on their home and school lives, a new study finds. Researchers looked at nearly 3,000 children with autism and found that nearly one-fourth also had chronic gastrointestinal problems such as constipation, abdominal pain, bloating, diarrhea and nausea.

October is Down Syndrome Awareness Month

Facts: 

• In 1866, the physical characteristics of people with Down Syndrome were linked with decreased intellectual disability and grouped as one syndrome.
•  John Landon Down, was the first to publish these findings.
• Down Syndrome is a condition in which a baby is born with an extra chromosome.
• Even though people with Down Syndrome might have have some physical and mental features in common, symptoms can range from mild to severe.
• Physical signs of Down syndrome include, small hands and feet, tiny white spots on the iris, and a single crease across the palm of the hand.
• CDC estimates that each year, about 6,000 babies in the United States are born with Down Syndrome.
• Physical problems associated with Down syndrome include, a birth defect in the heart, stomach problems, problems with memory, concentration and judgement.
  

RESOURCES

Family Blogs

Down Syndrome New Mama

Enjoying the Small Things

Josiah's Journey

Life As We Know It

Noah's Dad 

WEBSITES

Centers for Disease Control and Prevention

Pub Med Health

Wikipedia

Medline Plus

NICHCY Disability Fact Sheet

National Association for Down Syndrome

National Down Syndrome Society

Youtube video on understanding Down Syndrome

 This next video really made my heart smile.

Tiny MP3 Player

Enabling Devices has created a tiny MP3 player for people with severe and multiple disabilities. The control unit has five mini gumball switches for volume up, volume down, pause, and play, next tract or previous tract. The unit is compact and can fit in a person's hand or it can be clipped to a belt. You will need to use a speaker with the MP3 player which is not included.

Cost- $119.95

www.enablingdevices.com

6th Annual Special Education Leadership Conference

The Ohio Department of Education's Office for Exceptional Children will sponsor the 6th Annual Special Education Leadership Conference on September 26-27, 2012. The conference theme is Closing the Achievement Gap. For More Information

August is Spinal Muscular Atrophy Month!

What is Spinal Muscular Atrophy?
 Spinal Muscular Atrophy (SMA) is an incurable automosal recessive disease caused by a genetic defect. The disease usually develops early in life and is the leading genetic cause of death in infants and toddlers.

Statistics
- Affects as many as 10,000 to 25, 2000 children and adults in the United States.
- One of the most common rare diseases.
- 1 in 6,000 to 1 in 10,000 children are born with the disease.
- 1 in 50 people are carriers of the disease.

Causes
Linked to a genetic mutation in the gene.

Symptoms

•  hypotonia in legs, arms, ribs, chest and facial muscles
• difficulty in achieving developmental milestones
• respiratory distress
• difficulty in swallowing and feeding
• lack of head control
• decline in posture

Four Types of Spinal Muscular Atrophies

Infantile- stage 1	0-6 months	Develops in the first months of life. Generally do not live past two years of life due to major body organs shutting down very quickly
Intermediately- stage 2	6-18 Months	Affects children who are never able to walk or stand but are able to maintain a sitting position. Symptoms are usually noticed between the age of 6 and 18 months. As the body muscles are weakened, the respiratory system is greatly affected.
Juvenile- stage 3	18 months+	Usually manifests after the age of 18 months. Symptoms include children who are able to walk and will later lose this ability. Life expectancy is normal.
Adult onset- stage 4	Adulthood	Usually develops after the age of 30+ with gradual weakening of the muscles. Often will lose the ability to walk. Life expectancy is normal.

Treatment

• Physical Therapy
• Occupational Therapy
• Assistive Technology
• Respiratory Care
• Nutritional Care

I wanted to share with you the story of one family and their struggle with having a daughter born with SMA:

References

Wikipedia

Public Medical Health

National Human Genome Research Institute

Resources

www.fsma.org

www.smafoundation.org

www.genome.gov

www.fightsma.org

Understanding Rett Syndrome

Rett Syndrome is a Pervasive Developmental Disorder discovered by Dr. Andreas Rett, an Austrian pediatrician who in the late 1950's noticed that a few of his patients shared similar characteristics such as hand-wringling. Dr. Rett soon disovered similar cases in other parts of Euope. After publish a paper on the cases in a professional journal, other cases were noted in the United States.
Epidemiology

Rett Syndrome is rare and will affect 1/10,000 females
75% will lose their ability to walk in later years.
85% will develop scoliosis
Caused by a mutation in the gene which is believed to control the functions of many genes.

Symptoms

The child may appear normal for the first 6-18 months
will begin to lose:

• loss of finger skills
• loss of communication skills
• deceleration of head growth
• will develop scoliosis

Many believe that Rett Syndrome should not be placed in the catergory of PDD since it is a neurological disorder because of distinct differences such as in some cases, eye contct is maintained and hand movements are very different from the motor stereotypes of a person with autism.

Understanding Rett Syndrome

New York State Agreement on Legislation to Protect People with Special Needs and Disabilities

In the State of New York, Governor Cuomo proposed legislation to create the Justice Center for the protection of people with special needs to give New York State the strongest standards and practices in the nation for protecting people with special needs and disabilities. The new legislation was passed on June 17, 2012.

Governor Cuomo released the following statement:

Albany, NY (June 17, 2012)

Governor Andrew M. Cuomo, Senate Majority Leader Dean Skelos, and Assembly Speaker Sheldon Silver today announced an agreement on legislation that will establish the strongest standards and practices in the nation for protecting people with special needs and disabilities.

The legislation creates a new Justice Center for the Protection of People with Special Needs, an initiative that will transform how the state protects over one million New Yorkers in State operated, certified or licensed facilities and programs.

The Justice Center will have a Special Prosecutor and Inspector General for the Protection of People with Special Needs who will investigate reports of abuse and neglect and prosecute allegations that rise to the level of criminal offenses. It will also include a 24/7 hotline run by trained professionals, a comprehensive statewide database that will track all reports of abuse and neglect and a statewide register of workers who have committed serious acts of abuse who will be prohibited from ever working with people with disabilities or special needs. The information obtained by the Justice Center will also provide the means to analyze abuse pattern and trends in order to prevent future abuse and provide a basis for the training and supports that program managers and direct care workers need to meet their critical responsibilities.

"The Justice Center for the Protection of People with Special Needs will give New York State the strongest standards and practices in the nation for protecting those who are often the most vulnerable to abuse and mistreatment," Governor Cuomo said. "This new law will help us protect the civil rights of the more than one million New Yorkers with disabilities and special needs who for too long have not had the protections and justice they deserve. This legislation recognizes the dedication and good work of the many employees who care for the disabled, and we will continue our commitment to providing proper training and support for those who work in these facilities. I commend the Legislative leaders for reaching an agreement on this important bill and thank the many New Yorkers who worked hard across the state to make sure the Justice Center could become a reality."

Senate Majority Leader Dean Skelos said, "This measure will help ensure that people with special needs, our most vulnerable individuals, are protected from abuse and neglect when placed in the care of others. The Senate, led by Senator Roy McDonald, the Chairman of the Senate's Committee on Mental Health, has stood with Governor Cuomo on the need to take bold and dramatic steps to address this issue. I am pleased that we have now reached agreement on a bill that will provide peace of mind for the family, friends and loved ones of those affected."

Assembly Speaker Sheldon Silver said, "This is a victory for New York's developmentally disabled citizens and their families. Last year, the Assembly took the lead to shed light on the abuses taking place in our system of care for the disabled with a statewide series of public hearings which resulted in heartbreaking testimony. Now, with the Governor's leadership, the Empire State's system for the care and treatment of people with disabilities will be transformed. With the creation of an independent Justice Center for the Protection of People with Special Needs, parents will be able to get information on allegations of abuse and know that these cases are taken seriously."

Senator Roy McDonald, the bill’s sponsor, said, "Protecting vulnerable people and giving peace of mind to their loved ones are some of our most important responsibilities in public service. I'm proud to see this legislation move forward and there's more to be done in the future to safeguard the well-being of these individuals with disabilities who are entrusted to our care."

Assembly Member Harvey Weisenberg said, "As a parent of a child with special needs, this legislation is my top priority. It is critical that we protect our most vulnerable citizens from abuse and mistreatment. I applaud this strong legislation for both ensuring the safety and well-being of New York's developmentally disabled individuals and for providing peace of mind to families who need help in providing essential care."

Assembly Mental Health Committee Chair Felix Ortiz said, "The care and protection of the developmentally disabled is something we must approach with the utmost respect. I chaired statewide hearings on this issue last year, and the stories we heard moved us to make this a priority in the Assembly. I commend the Governor and our state legislators for creating this independent agency, the Justice Center, to protect and advocate for individuals with disabilities, and for taking major steps to guarantee exceptional care for this vulnerable population."

Last year, there were more than 10,000 allegations of abuse and neglect against New Yorkers with special needs and disabilities in state operated, certified or licensed facilities and programs. However, the State has never had a consistent and comprehensive standard for tracking and investigating complaints or punishing guilty workers.

The Justice Center for the Protection of People with Special Needs will have primary responsibility for tracking, investigating and pursuing serious abuse and neglect complaints for facilities and provider agencies that are operated, certified, or licensed by the following six agencies: The Department of Health (DOH), the Office of Mental Health (OMH), the Office for People With Developmental Disabilities (OPWDD), the Office of Children and Family Services (OCFS), the Office of Alcoholism and Substance Abuse Services (OASAS), and the State Education Department (SED). The Justice Center will also absorb all functions and responsibilities of the Commission on Quality of Care and Advocacy for Persons with Disabilities, with the exception of the Federal Protection and Advocacy and Client Assistance Programs which will be designated to a qualified non-profit.

Other components and responsibilities of the Justice Center include the following:

• An Executive Director, Special Prosecutor and Inspector General, and a substantial staff of trained investigators, lawyers and administrators. The Justice Center's law enforcement branch will have concurrent authority with district attorneys to prosecute abuse and neglect crimes committed against such persons.
• Creation of a statewide 24/7 hotline staffed by trained professionals to ensure that allegations of abuse are promptly reported to law enforcement and fully and effectively investigated.
• Development of a register of workers who have committed serious or repeated acts of abuse who will be prohibited from ever being hired again in any position where they would work with people with disabilities or special needs.
• Representing the state at all public employee disciplinary cases or those where the state is seeking termination of employment as the penalty.
• Development of common standards for investigations and requirements to be used to train investigators.
• Development of a code of conduct containing the basic ethical standards to which all individuals working with people with special needs and disabilities would be required to subscribe and would be held accountable.
• Consolidation of background check procedures, including reviewing and evaluating the criminal history for any person applying to be an employee, volunteer or consultant at any facility or provider agency operated, licensed or certified by OMH, OPWDD, and OCFS in a position where a background check is required.
• Providing an annual report to the Governor and the Legislature concerning its work during the preceding year which will include data on central register reports, results of investigations, types of corrective actions taken, results of its review of patterns and trends relating to abuse and reporting of abuse, suggested corrective actions and training efforts.

　
The bill will also provide for re-designation of an independent agency to conduct protection and advocacy and client assistance functions, in conformance with federal provisions governing oversight of the state’s system of care for persons with disabilities. The independent agency will provide information, references and technical assistance to address the needs of individuals with disabilities; pursue administrative and legal remedies as necessary to protect and advocate for the rights of individuals with disabilities; investigate incidents of abuse and neglect reported to the independent agency; and establish a grievance procedure to ensure that individuals with disabilities have full access to services of the agency.

An Advisory Council of at least 15 members will be created to provide guidance to the Justice Center in the development of policies, programs and regulations. Members will include persons with experience in the care and treatment of, or advocacy on behalf of, individuals with disabilities, as well as individuals or family members of individuals who have participated in programs or received services from provider agencies under the jurisdiction of the Justice Center.

The new law will also replace confusing and inconsistent definitions of abuse and neglect in various laws and regulations with a single consistent standard applicable to human services systems.

Under the legislation, a new level of transparency will be created for non-state operated facilities and programs licensed or certified by the State to serve people with disabilities and special needs. These entities, working with the Justice Center, will need to follow transparency guidelines based on FOIL for information requests regarding abuse or neglect of the people they serve.

The new law also will enhance criminal penalties for endangering the welfare of people with disabilities and special needs and strengthen a prosecutor's ability to prove that any of these individuals in a facility operated, licensed or certified by the State were the victims of sexual abuse. The law creates a new misdemeanor that will be easier to prove and elevates an existing crime of endangering the welfare of an incompetent or physically disabled person to a class E felony. In addition, the legislation provides that an individual in a residential facility under the jurisdiction of the Office for People With Developmental Disabilities, the Office of Mental Health and the Office of Alcoholism and Substance Abuse Services cannot consent to sex with an employee, thereby removing the prosecutor's obligation to prove that any sexual activity was nonconsensual.

New Yorkers can learn more about the Justice Center at www.Justice4SpecialNeeds.com

What do you think? Will this new legislation make a difference in protecting people with special needs and disabilities?