Welcome to the Pennsylvania Dual Diagnosis Direct Support …€¦ · Welcome to the Pennsylvania Dual Diagnosis Direct Support Curriculum presentation on Overview of Syndromes. •The

Welcome to the Pennsylvania Dual Diagnosis Direct Support Curriculum presentation on Overview of Syndromes.

• The Commonwealth of Pennsylvania’s Office of Mental Health and Substance Abuse Services (OMHSAS) and the Office of Developmental Programs (ODP) have undertaken a joint initiative to address the needs of people who have an intellectual disability as well as mental health challenges. People who have both of these challenges are commonly referred to as those who have Dual Diagnosis. For the purpose of this presentation, Dual Diagnosis is not referring to co-occurring mental health challenges and substance abuse or dependence, although people can have substance abuse or dependence issues as well as a Dual Diagnosis of an intellectual disability and mental health challenges. The curriculum was designed for Direct Supporters, Supports Coordinators and others who work in either the intellectual disability field or the mental health field.

• The ultimate goal of this presentation curriculum is to provide information

that can aid in the understanding of the struggles and the triumphs of those you support or will support. This curriculum was designed to demonstrate the complexity of Dual Diagnosis and the factors that need to be considered to best support those with whom you come into contact. The Pennsylvania Dual Diagnosis Direct Support Curriculum was also designed to demonstrate

that all people in this world, regardless of their challenges, are much more alike than they are different.

• The information presented to you today is to increase your awareness. It is not intended to replace medical advice. If you believe you or someone you support have these conditions or concerns, please seek the advice of a physician.

By the end of this presentation, you will have increased your awareness in: basic genetics, genetic syndromes, where to obtain reliable information on genetics, medical and behavioral health conditions often seen in specific syndromes, and physical and behavioral interventions often used with specific syndromes.

• A syndrome is pattern of physical, behavioral and developmental features that occur together in a person due to a single, underlying cause. Specific syndromes have common physical and behavioral conditions associated with them. There are also physical and behavioral interventions that can often help someone with a syndrome. Syndromes do not protect against other conditions – for example diabetes, arthritis, and cancer. If someone has physical features that appear different, this might be the first reason to suspect that someone may have a syndrome.

• There are approximately 6,000 syndromes that have been identified and there are new syndromes being discovered all the time.

• During this presentation, only a small number of syndromes will be discussed that are commonly associated with intellectual disabilities (ID) and mental health conditions. In a few of the syndromes we will be talking about, ID may not be a common condition; however, if people with these syndromes are in an ODP supported program they have been clinically assessed to have ID.

• If you work directly with people funded for services through OMHSAS or

ODP, you probably will see people with syndromes that are not discussed today. However, we will discuss reliable sources of information where you should be able to obtain information about most known syndromes.

• The diagram on this slide shows some basic information about genetics, which is the study of genes. The study of genetics can help to determine the causes of some diseases, if they are inherited and how they are inherited. In some cases, this has helped to locate the specific gene responsible for certain diseases, opening the door to improved treatments, or even cures.

• Let’s start with the bottom of the image you see - genes are often called the “blueprint” of the cell. Genes consist of DNA which provide the instructions your body needs to grow, develop and function properly. Genes are arranged on specific locations on chromosomes which you inherit from your parents, allowing your genetic traits to be expressed. Each chromosome is made up of approximately 2,000 genes.

• Each cell in your body normally contains 23 pairs of chromosomes, one set from each parent, resulting in a total of 46 chromosomes. Forty-four of the paired chromosomes perform various roles in cell production but the last two pairs of chromosomes are called our sex chromosomes and they determine our gender. Women have two X chromosomes and males have an X and a Y chromosome.

• A genetic syndrome occurs when there is an abnormal presentation in a gene or genes that make up a chromosome. If a chromosome is missing genetic material, genetic material is mutated; or if there is an extra chromosome present, the following may occur: specific proteins may not be made, specific proteins may be made incorrectly, or specific proteins are made too often. Any of these situations can result in a genetic syndrome. Genetic syndromes may be diagnosed by specialized laboratory genetic testing.

• Genetic testing can be extremely helpful in our understanding and our support of a person. The correct diagnosis of a syndrome might help a direct support professional to educate an individual about the associated signs and symptoms of the syndrome. Information about a syndrome usually includes a physical and mental health diagnosis associated with that syndrome and possible physical or behavioral interventions. This can also include educational needs, interventions and strategies.

• For parents, genetic testing and the diagnosis of a syndrome gives them all the information we just discussed. It also may answer why their child has some of the puzzling physical, behavioral, and educational differences that they see. Knowing that someone has a specific syndrome can be extremely helpful, but a person is more than a syndrome. They are a unique individual.

• The value of the correct diagnosis of a syndrome may help people

understand why a person has certain physical or behavioral conditions, and therefore ways to provide the best support for them.

• If you think someone should get genetic testing, start with the person’s Primary Care Physician or PCP. Be prepared to say why you are seeking the genetic testing. You and/or the PCP may need to contact the person’s health insurance provider for approval of the testing. You may need a letter of medical necessity to get this approval. There are options for where to go for genetic assessment, counseling and testing. Large hospitals and university medical centers often have genetics departments. Certified Genetic Counselors or CGCs and Advanced Practice Genetic Nurses (APGNs) are likely to be part of the genetics department. Physicians and PhDs that specialize in genetics are often part of these departments. Since most genetic conditions are diagnosed before or right after birth, in the past only pediatric hospitals did genetic assessment, counseling and testing. Now there are many places where adults can get genetic assessment, counseling and testing.

• The Gene Tests website is a medical genetics information resource developed for physicians, genetic counselors, other healthcare providers, and researchers. It has a laboratory directory of over 700 international laboratories offering molecular genetic testing, biochemical genetic testing, and specialized cytogenetic testing for more than 5,000 inherited disorders. It has a clinic directory of over 1,000 international genetics clinics providing

diagnosis and genetic counseling services to patients and their families. More information and user-friendly features for laboratories, clinics, and users are added and is updated regularly. The use of this website assumes acceptance of its disclaimer which is found on the website itself.

• You should be careful to only use reliable websites for information on genetic testing. Any website sponsored by the National Institutes on Health is considered reliable. Using a Certified Genetic Counselor (CGC) or an Advanced Practice Nurse in Genetics (APNG) means you are using someone with special education and training in genetics. Directories of medical doctors with advanced education and training in genetics are also available.

• For the remainder of this presentation, we will be discussing the syndromes listed on this slide in more detail. These are Down syndrome, Fragile X syndrome, Angelman syndrome, Williams syndrome, Prader-Willi syndrome and Cornelia de Lange syndrome.

• These syndromes may have mental health challenges associated with them. If you see people in ODP supported programs, that means an intellectual disability has also been diagnosed.

• Down syndrome (DS) is the most common syndrome associated with intellectual disability (or ID).

• The cause of DS is the presence of an extra 21st chromosome and was

officially discovered in 1959. There is much variation in the presentation of Down syndrome. There is a spectrum of cognitive ability meaning that people with Down syndrome have differences in their intellectual functioning. The most serious physical health problems associated with Down syndrome are cardiovascular disorders.

• Down syndrome has more than 50 clinical markers. Most people with Down syndrome fall in the mild to moderate range of intellectual disability. The incidence is 1 in every 800-1000 births. Diagnosis is usually made before the child is born. The presence of abnormal levels of AFP, alpha fetoprotein, and/or HCG, human chorionic gonadotropin in the birth mother, may strongly suggest the need for additional testing to rule out Down syndrome. Amniocentesis is the definitive test for Down syndrome while the child is in utero.

• This syndrome is named after Dr. John Langdon Down who published a paper on the characteristics of the condition in 1866. The actual genetic cause of the syndrome, the extra 21st chromosome, was discovered in 1959. The syndrome was named Down syndrome in 1961. The presence of an extra 21st chromosome also known as trisomy 21, is the most common type of Down syndrome which means that most people with Down syndrome have 47 (not 46) chromosomes in each cell.

• What causes someone to have an extra 21st chromosome has not yet been determined. It is known that older birth mothers are more likely to have a child born with Down syndrome. Testing for Down syndrome is suggested for

pregnant women over 35 years of age.

• There are two other forms of Down syndrome which do not have characteristics as severe as trisomy 21. Mosaic Down syndrome occurs when only some cells have the extra 21st chromosome. The more cells affected, the greater the severity of Down syndrome symptoms. Translocation is the least common form of Down syndrome. With this type, genetic material breaks off from one chromosome and attaches to another chromosome, resulting in a gain of genetic material in this chromosome.

This slide addresses physical characteristics often seen in a person with Down syndrome. What you don’t see outwardly is actually much more important. About 30 – 60% of newborns have congenital heart defects. There is an increased incidence of otitis media, or ear infections, hearing problems, hypothyroidism, and celiac disease. There are often challenges related to constipation, seizures, and sleep apnea. Most people with Down syndrome have physical differences that are easily recognizable.

• Multiple body systems are affected in Down syndrome. • There are often vision problems which may include myopia, or

nearsightedness, or hyperopia, or farsightedness. Strabismus ,or “crossed eyes” which is when both eyes do not focus on the same object, as well as nystagmus, or involuntary rhythmic movements of the eyes may also be present. Sometimes there are problems with the tear ducts that cause an individual to have dry eyes. There are also hearing problems, that are sometimes caused by chronic ear infections. Unfortunately, vision and hearing problems tend to worsen as the individual gets older.

• There are serious cardiovascular system concerns associated with Down

syndrome with 30-60% of people with this syndrome having atrioventricular septal defects. Problems with the endocrine system are also common. Many individuals have hypothyroidism . There is a higher incidence of Type I diabetes as well. Problems in the integumentary system may include patchy hair loss, dry skin, seborrheic dermatitis, folliculitis, and fungal infections of the skin and/or nails.

• There are also conditions related to the musculoskeletal system including

atlanto-axial instability, a common orthopedic problem seen in people with Down syndrome. Although it has a complicated name and sounds somewhat intimidating, for the most part it causes no problems to those who have it. However, all people with Down syndrome should be assessed for atlanto-axial instability, specifically before participating in sports, because it can be serious and potentially a life-threatening problem. People with Down syndrome are also more likely to be of short stature, have hip dysplasia, and have joint laxity. Joint laxity means that joints have the ability to bend more than what is normally possible; and is referred to as being “double jointed” or having loose joints.

• Gastrointestinal system problems may include constipation, gastroesophageal reflux disease, also known as GERD, and celiac disease. There are also some neurological system issues that include intellectual disability, seizure disorders, and a higher incidence of dementia with an early onset. There are some reproductive system challenges which include male sterility and a higher incidence of testicular cancer. Females usually have low fertility. A respiratory system issue that can commonly occur is obstructive sleep apnea.

• Knowing the common physical conditions associated with Down syndrome can help caregivers anticipate future needs and enable them to support individuals with this syndrome more effectively.

• People with Down syndrome usually have a higher incidence of developing dementia. This usually occurs at an earlier age (as early as age 40) and with a more rapid progression than the general population. Alzheimer’s disease is a type of dementia.

• Studies show by age 40, almost 100% of people with Down syndrome have changes in the brain commonly associated with Alzheimer’s disease. Amyloid Precursor Protein, or APP, is associated with the plaque found in the brain of individuals with Alzheimer’s disease. APP is coded for chromosome 21. Because people with Down syndrome have an extra copy of chromosome 21, they make one and a half times as much APP as other people.

• This appears to cause earlier brain changes typical of Alzheimer’s disease. However, a significant number of people with Down syndrome older than 40 show no signs of having Alzheimer’s disease. It is not currently understood why changes to the brain that are typical of Alzheimer’s disease do not produce dementia in people with Down syndrome.

• Dementia screening should start early for people with Down syndrome. A dementia screening tool for people with Down syndrome has been developed and can be found on the Philadelphia Coordinated Health Care website at www.pchc.org. It is recommended that this be started at the age

of 35 years and repeated on an annual basis.

• One possible sign that dementia may be present is a new onset of seizures. In people who have intellectual disabilities, the decrease in their ability to perform activities of daily living (ADLs) or previous skills is a better indicator of cognitive decline than anything else. It is important to remember that “diagnostic over-shadowing”, or attributing symptoms to the person’s intellectual disability, can make the diagnosis of this condition difficult to assess.

• Another early sign of dementia might be a disturbance in someone’s sleep/wake cycle. Often with dementia, the sense of day and night is confused and orientation to time declines. Verbal communication also declines. In later stages of the disease, personality changes are often present as well. Often the person’s sense of “place” declines too. The biggest safety risk for people with dementia is wandering, and not being able to find their way back.

• In the late stage of the disease you are more likely to see the physical problems associated with dementia. The person may develop a gait disturbance, dysphagia and incontinence. The person may engage in long periods of inactivity or sleep more than normal. Often there are periods of psychosis, when symptoms such as paranoia, and hallucinations are present. These mental health challenges can be very upsetting to the

individual and family members.

• As with physical health conditions, there are also some mental health challenges that are commonly seen in people with Down syndrome.

• People with Down syndrome have higher incidences of depressive disorders, anxiety disorders and obsessive-compulsive disorders. People with Down syndrome tend to find any change in routine difficult, so it is important to keep routines as regular as possible. Be aware that transitions from one activity or place to another are often challenging. It is essential to recognize signs of depression such as looking sad and/or tearful; the person does not like to do what they used to find enjoyable , their energy level is low, and there is a decline in their ability to concentrate. The person with depression may also exhibit irritability such as an overreaction or inappropriate reaction to something another person says or does. For example, someone says, “good morning”, and the person becomes angry and starts yelling.

• Symptoms of depression can sometimes be confused with symptoms of dementia. Depression often causes a decrease in one’s ability to focus and complete tasks. This decline in performance ability might be thought of as a loss in cognitive ability, but it may actually be a symptom of depression. Symptoms of undiagnosed or poorly managed hypothyroidism may also look like depression; for example, a lower energy level or a change in sleeping pattern. Self-talk is something often witnessed in people with Down

syndrome and is sometimes confused with a psychotic symptom or auditory hallucinations. Often, people with Down syndrome talk to themselves as a rehearsal for what they are going to do. They are acting out what they are going to do, not talking to someone who isn’t there.

• SIB stands for Self-Injurious Behavior. Sometimes SIB is a symptom of a

physical health problem. For example, if someone has an earache, a person may hit their ears, or if there is a headache, someone may bang their head. A sinus infection may be indicated when someone hits their forehead. In these cases, pay attention to these cues and be prepared to bring the individual for a medical evaluation. Sometimes a behavior might be a response to the environment as well. For example, if a person is too hot in the house they may strip off their clothes.

• Loss of skills could be related to many things. Declines in hearing and vision are very common in people with Down syndrome, and they may occur earlier than in the general population. Sometimes sensory decline is confused with new cognitive impairment such as delirium or dementia. The difference between delirium and dementia is that the onset of delirium is fast and correctable, whereas dementia has a gradual onset and is not reversible.

• Fragile X Syndrome is caused by a change in the FMR1 gene. FMR1 stands for “Fragile X mental retardation “ which sounds a little confusing and is politically incorrect, as well. Let’s deal with the politically incorrectness of the name of the FMR1 gene first. The term mental retardation has been eliminated legally in the US and the term intellectual disability has replaced it. However, the FMR1 gene is a scientific name and it is not bound by the same restrictions. Remember our brief genetics discussion – people typically have 46 pairs of chromosomes, 23 from our mother and 23 from our father. Forty-four of the paired chromosomes perform various roles in cell production but the last 2 pairs of chromosomes determine our gender. Women have 2 X chromosomes and males have an X and a Y chromosome. Because both men and women have X chromosomes, both men and women can have Fragile X Syndrome. The incidence and severity of the syndrome is higher in males because males only have one X chromosome while women have two X chromosomes.

• The FMR1 code is repeated on a fragile area of the X chromosome. The more

repeats, the more likely a problem. The FMR1 gene makes a protein that the brain needs for proper development. A defect in the FMR1 gene results in too little production of that protein. With this syndrome, the level of

intellectual disability is usually is mild to moderate in both sexes. Females generally have learning disabilities in math. Males, tend to have processing problems, especially with sequential processing of information.

• Although there are characteristic physical features seen in many people with Fragile

X Syndrome, these features may not be present in milder cases of the syndrome. Common physical features seen in people with Fragile X syndrome include a long face, prominent chin, prominent ears, and a large head circumference. Also, the individual’s palate may be arched and their teeth may appear crowded. People often have strabismus, a condition in which the two eyes do not line up in the same direction, and is more commonly known as "crossed eyes.“

• Another condition commonly seen in Fragile X syndrome is mitral valve prolapse, or MVP, which is a defect in the mitral valve of the heart. The flaps of the valve are "floppy" and don't close tightly.

• Some other common physical health conditions include seizure disorders and a

delay in the development of psychomotor mobility skills. Within the musculoskeletal system, there may be joint hyper-extensibility, hyper-flexibility, large hands and/or feet, flat feet, and hypotonia which is a state of low muscle tone and reduced muscle strength. Males with Fragile X syndrome tend to have enlarged testicles.

• In the areas of speech and language, someone with this syndrome may speak in rapid bursts, repeat words or phrases, perseverate, and may talk inappropriately

and incessantly about one topic. Speech tends to be worse when the person is anxious or when asked to maintain eye contact.

• There are several behavioral characteristics associated with Fragile X syndrome. These are listed in the table on this slide. Tactile hypersensitivity and tactile defensiveness commonly occurs in males who have this syndrome. This means that the person has an unusual, negative, or out of proportion response when people or things touch them. This can sometimes be a serious problem with health examinations and treatments. It is important to find relaxation techniques or calming strategies. Individuals may also have difficulty with food textures, certain clothing fabrics and clothing tags. Occupational Therapy, or OT, may be able to help with sensory integration and feeding issues.

• People with this syndrome are generally shy, timid and anxious. It is key to find quiet areas for communication and skill building when supporting them. They may relate better to machines than people and prefer to use a computer for educational and recreational activities. Listening to music or stories through headphones may also be enjoyable. Take time to find activities that the individual likes to do. You can re-direct them to these activities if they are struggling with minor frustrations or engaging in self-injurious behaviors.

• Try to recognize that self-stimulating behaviors may appear strange or meaningless to you, but they are very meaningful for the individual and

serve as a calming technique. Just as with Down syndrome, self talk is a common characteristic. It is not always clear if these behaviors are a sign of a mental health challenge or just a behavior or habit. Usually, it is fairly easy to re-direct these individuals to engage in conversation with another person.

• There are a number of mental health conditions commonly associated with Fragile X syndrome. These include depression, anxiety disorder and obsessive-compulsive disorder. Attention deficit hyperactivity disorder (ADHD) and learning disabilities are also common. Some of the common behavioral traits of Fragile X syndrome are also typically found in people with autism spectrum disorders and in fact, autism or pervasive

developmental disorder (PDD) is often the initial diagnosis given to people with this syndrome.

• There is typically an early onset of dementia. Approximately 15-45% of people with Fragile X syndrome over 40 years of age have signs of dementia. Early dementia screening is recommended, as with Down syndrome. This will establish a baseline and can assist in identifying early signs of dementia.

Angelman syndrome was named after Dr. Harry Angelman who first described its characteristics in 1965. People with Angelman syndrome generally have a severe level of intellectual disability. Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the mother. The incidence of this syndrome is approximately 1 in 12,000 to 20,000 live births. Developmental delays are noticeable as early as 6 to 12 months of age. The life span for individuals with this syndrome is considered normal.

Individuals with Angelman syndrome often have feeding problems as infants. They typically have a small head size. They also have strabismus or “crossed eyes”. Seizures are common, with the typical onset being between 2-3 years of age. Other characteristic features include movement disorders such as balance and gait problems, jerky movements, hand flapping, tremors and a protruding tongue. Many individuals have scoliosis, which is a curvature of the spine. Individuals with this syndrome often struggle with obesity.

Behavioral characteristics associated with Angelman syndrome include smiling and laughing easily, and a happy demeanor. People tend to have poor concentration and hyperactivity. Many times there is severe speech impairment with a minimal or no use of words. Individuals with Angelman syndrome also tend to have sleep and eating disorders.

• Many individuals with Angelman syndrome have a seizure disorder requiring the daily administration of antiseizure medication. Physical therapy is a good treatment option to help with balance and gait problems.

• Communication therapy can also be helpful. The use of sign language and picture communication devices may be helpful as well. Behavior therapy may be beneficial to help with hyperactivity and short attention span.

• Williams syndrome is a genetic disorder caused by a deletion of genes on chromosome 7, and occurs in 1 out of every 10,000-20,000 live births. The incidence is equal between males and females. Infants with this syndrome often have a failure- to- thrive diagnosis because of problems with feeding and vomiting.

• There are common physical features seen in people with Williams syndrome, though there is a wide variety in the physical presentation. They are often described as “elf like.” Facial features include a short upturned nose, epicanthal folds- which is a fold in the upper eyelid that covers the inner corner of the eye, a flat nasal bridge, a long smooth philtrum - which is the space between the upper lip and nose), full lips, and a short stature.

• An intellectual disability of a mild to moderate level is common in most individuals with Williams syndrome. Frequently, there are initial delays in language development; however, later on, expressive language skills can be highly developed.

• The table shown on this slide gives you some of the common physical conditions associated with Williams syndrome.

• Individuals with this syndrome tend to have dental abnormalities including malocclusion, which means abnormal alignment of the teeth, and oddly shaped teeth.

• Vision issues common with Williams syndrome include strabismus and poor depth perception. Some individuals have a stellate pattern in the iris of their eyes, which means the iris appears “star-like”.

• With regard to hearing problems, hyperacusis, meaning hypersensitive hearing, is very common in people with Williams syndrome. About 90% of children with Williams syndrome experience this feature of their condition. Sudden loud noises such as guns firing, balloons bursting or fireworks can be distressing. Many individuals have “perfect pitch” meaning they can re-create music without any other tone reference. Musical and verbal abilities may make an individual with Williams syndrome appear to possess higher intellectual capabilities than they actually have.

• Many people with Williams Syndrome have congenital heart defects. A common condition associated with this syndrome is supravalvular aortic stenosis . This is a narrowing of the aorta in the area near the aortic valve, where blood passes from the heart into the aorta, the largest artery in the body. Hypertension and other serious cardiac problems are also frequently experienced. It was previously stated that Williams syndrome is due to missing genetic material from chromosome 7. this genetic material is responsible for the production of elastin, which is a protein that gives elasticity to blood vessels and other body tissues. A lack of elastin results in a stenosis, or narrowing, of blood vessels.

• Another condition often experienced by those with Williams syndrome is constipation, a potentially painful and life threatening disorder. People with this syndrome who have difficulty with bowel movements should be monitored and treated aggressively. Incontinence and frequent urinary tract infections, or UTIs, can also be a concern.

• People with Williams syndrome tend to have low muscle tone and joint laxity. Common spinal disorders are scoliosis, kyphosis, or kyphoscoliosis, which are abnormal curvatures of the spine. Other musculoskeletal concerns include joint contractures, hernias, and motor deficits that affect strength, balance, and coordination. People with this syndrome may require multidisciplinary medical management.

• Williams syndrome is sometimes referred to as the “cocktail party syndrome.” People with Williams syndrome tend to have excellent verbal and visual skills. Their auditory memory is excellent and they can remember faces very well. People with this syndrome are also empathetic and very sociable. All of these strengths may make people think that someone with Williams syndrome has higher intellectual functioning than they actually have.

• Unfortunately, people with Williams syndrome sometimes have significant problems recognizing normal social boundaries. They may be unafraid of strangers and need help in understanding why they should not trust everyone, as they would a close friend. Individuals with Williams syndrome may have difficulty understanding things like taking turns, and limiting attention seeking behaviors. It is important for them to use a ”buddy system” for safety and to practice social skills. You should be aware that individuals may become easily frustrated and may need a lot of reassurance. It is best to use distraction, after comfort or reassurance, in order to help the person move on.

• Earplugs may help with high sound sensitivity. If possible, try to avoid loud,

or overly stimulating environments. It is also helpful, when possible, to provide a warning prior to loud noises such as alarms, sirens, trains, fireworks, etc. Making use of tape recorders and computers are helpful, since people with this syndrome are primarily auditory learners. When teaching skills, limit distractions, and use real money and real life situations for examples. It is essential to encourage the person with Williams syndrome to talk through problems in order to solve them. It is also helpful to use pictures or music in learning situations.

• There are some mental health challenges common in Williams syndrome which include anxiety, insecurity, and phobias. Some examples of phobias include a fear of heights, or a fear of open stairs and uneven surfaces. These phobias generally stem from difficulty in spatial discrimination, which is part of the syndrome. Other issues may include attention deficit hyperactivity disorder, or ADHD, distractibility, and impulsivity. It is important to assess whether distractibility or ADHD symptoms are actually due to hearing hypersensitivity. If so, the recommended treatment might be physical rather than psychiatric, or a combination of the two.

• It is advisable to offer the individual some diversions such as relaxing music, humor, or physical exercise to help reduce anxiety. It is important to provide reassurance to avoid perseveration on their part, such as asking the same question repeatedly. If possible, try to avoid known phobias. Cognitive behavioral therapy, or CBT, may be helpful. Sometimes an individual may benefit from medication such as Ritalin for ADHD. Be aware that some individuals may be more sensitive to medication than others.

• Prader Willi Syndrome, also known as PWS, is a rare genetic disorder that results from a defect on chromosome 15 and occurs in approximately 1 in 10,000 to 15,000 people worldwide. Mild to moderate intellectual disabilities, as well as physical, behavioral, and mental health disorders are common features of this disorder.

• Individuals with PWS have a dysfunction in the part of the brain called the hypothalamus, which controls hormone production. This interferes with the normal regulation of many bodily processes including hunger, growth, sexual development, sleep, temperature, and mood.

• PWS is the most common genetic cause of obesity because individuals with PWS do not experience a sense of satiety, or feeling full, after eating. The uncontrollable urge to eat and a lower than normal metabolic rate can lead to excessive eating and life-threatening obesity unless strict supervision and food security is observed. Many medical complications of Prader-Willi syndrome are due to obesity; these include diabetes, cardiovascular disease, and sleep apnea.

• Physical characteristics for a person with PWS include short stature, small hands and feet, curvatures of the spine, thick and sticky saliva, almond shaped eyes, and muscle weakness. Most individuals with PWS are unable to vomit and are at risk for serious gastrointestinal problems, especially

with overeating. They are prone to sleep and speech disorders, osteoporosis and are at risk for bone fractures and have a high tolerance for pain. Most people with this disorder have little to no sex hormone production, which can result in infertility.

• Many individuals with PWS experience behavioral health challenges, and these are often related to food.

• Other co-occurring mental health conditions may include autism spectrum disorder, depression, anxiety, obsessive-compulsive disorder, or OCD, mood disorders and psychosis.

• Common behavioral and personality challenges related to PWS include food seeking and hoarding, oppositional defiance, temper tantrums, stubbornness, confabulation, skin picking, perseveration and difficulty with transitions and changes in routines. Individuals with PWS have a low tolerance for stress and their behavioral challenges are exaggerated in stressful situations.

• Mild to moderate cognitive impairment in areas of reasoning and problem-solving, is a common feature of this syndrome. And because judgment is impaired, supervision is recommended in all decisions related to food, medical care, money management, hygiene, and living arrangements. Having a highly structured and regular routine, advance planning and scheduling, especially around meals, and completion of one activity before beginning the next may help contribute to successful behavior support.

• Cornelia de Lange Syndrome, or CdLS, is another rare developmental disorder occurring in approximately 1 in 10,000 live births. It affects both genders equally and is seen in all races and ethnic backgrounds.

• Individuals with CdLS commonly have distinctive facial and other physical features, medical issues, developmental delays, and intellectual disabilities that range from mild to severe levels.

• Behavioral and communication challenges often exist and vary in severity. • A diagnosis of CdLS is made on the basis of clinical observations and/or

genetic testing. • Individuals with this syndrome usually present with distinctive facial

features such as arched eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips. Classic physical features include excessive body hair, small head and stature, limb abnormalities, and small hands and feet.

• The signs and symptoms of Cornelia de Lange syndrome vary widely among affected individuals and can range from relatively mild to severe.

• Medical conditions that occur frequently include congenital heart defects and seizure disorders. Gastroesophageal reflux disease, or GERD, and other problems of the digestive tract, are common in people with CdLS.

• Vision and hearing impairments are typical. Speech and language challenges often exist, as well. Verbal abilities are commonly limited, but some people with CdLS have very good language skills.

• Sleep pattern irregularities can be a problem for individuals with Cornelia de Lange syndrome.

• Individuals with CdLS are prone to mental health and behavioral challenges such as attention deficit hyperactivity disorder, or ADHD, repetitive and compulsive behaviors, social anxiety, and aggression.

• In addition, CdLS often manifests in language deficits that affects one’s

communication and social interactions. If a person cannot accurately report symptoms such as pain or discomfort, this might manifest in behavioral changes, such as irritability or self-injurious behaviors.

• Behavior management depends on the individual’s signs and symptoms. In

general, many people with CdLS do well with a well-organized routine, in a predictable and calm environment. Remember to allow adequate time to process information and to complete activities.

Congratulations, you have successfully completed the Overview of Syndromes training.

Thank you for your participation in this training.

Older Adults and Dual Diagnosis