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The exact incidence of the disorder is unknown. Approximately affected individuals have been identified worldwide. Researchers believe that affected individuals often go undiagnosed or misdiagnosed, making it difficult to determine the true frequency the disorder in the general population.

Symptoms of the following disorders can be similar to those of Pitt-Hopkins syndrome. Comparisons may be useful for a differential diagnosis. Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements ataxia ; tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling.

Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional common symptoms include seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene. Mowat-Wilson syndrome MWS is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, absent speech, distinctive facial features and seizures. Some affected individuals may not be recognized until childhood or adulthood, especially when Hirschsprung disease is not present. MWS is caused by an abnormality in the ZEB2 gene that is usually the result of a new genetic change mutation in the affected person.

Rett syndrome is a progressive neurodevelopmental disorder that almost exclusively affects females. Only in rare cases are males affected. Infants with Rett syndrome generally develop normally for about 7 to 18 months after birth. At this point, they lose previously acquired skills developmental regression such as purposeful hand movements and the ability to communicate.

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Additional abnormalities occur including impaired control of voluntary movements ataxia and the development of distinctive, uncontrolled hand movements such as hand clapping or rubbing. Some children also have slowing of head growth acquired microcephaly , Affected children often develop autistic-like behaviors, feeding and swallowing difficulties, growth retardation, and seizures. Similar to Pitt-Hopkins syndrome these individuals can also develop spells of hyperventilation and apnea. Most Rett syndrome cases are caused by identifiable mutations of the MECP2 gene on the X chromosome and can present with a wide range of disability ranging from mild to severe.

The course and severity of Rett syndrome is determined by the location, type and severity of the MECP2 mutation and the process of random X-inactivation see Causes section below. Therefore, two girls of the same age with the same mutation can appear significantly different.

Augmentative Communication

Some children with changes mutations in the CNTNAP2 gene or the NRX 1 gene have developed similar symptoms as children who have Pitt-Hopkins syndrome, including absent speech and global developmental delays. These disorders are extremely rare and affected children do not have the same distinctive facial features as seen in children with Pitt-Hopkins syndrome. They also have abnormal sleep-wake cycles. These disorders have characteristics features that can distinguish them from Pitt-Hopkins syndrome.

For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. A diagnosis of Pitt-Hopkins syndrome depends upon a detailed patient history, a thorough clinical evaluation, and identification of characteristic symptoms.

There is overlap among symptoms associated with Pitt-Hopkins syndrome and other similar neurological disorders. The lack of major congenital malformations, which are structural or functional abnormalities that are present at birth, supports a diagnosis, which can generally be confirmed by molecular testing demonstrating a specific change mutation or deletion involving the TCF4 gene. Diagnostic criteria have been published based on published cases, but are being redefined as more molecularly confirmed cases have been identified.

Clinical Evaluations and Workup If the diagnosis is suspected by exam and history, molecular testing can be ordered. If the diagnosis is confirmed, investigations for other congenital malformations such a heart or kidney defects are only needed if there is a specific clinical concern, as there is not an increased incidence for these with Pitt-Hopkins syndrome. If seizure activity is seen or suspected — body shaking or staring spells, physicians may recommend an electroencephalogram EEG , which is a test that measures the electrical activity of the brain and may show changes in brain function and help to detect seizures.

An advanced imaging techniques magnetic resonance imaging MRI of the brain may also be performed. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues, including the brain. Physicians use an MRI to obtain a detailed image of a major region of the brain called the cerebrum. A variety of nonspecific brain MRI findings have been seen in Pitt-Hopkins syndrome, though many studies are reported as normal.


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Treatment is directed toward the specific symptoms that are apparent in each individual and generally requires a team of specialists, that can be coordinated by a medical geneticist or your pediatrician. Genetic counseling is of benefit for affected individuals and their families. Psychosocial support for the entire family is essential as well. Following an initial diagnosis, it is recommended that a developmental assessment be performed and appropriate occupational, physical, speech and feeding therapies be instituted.

Periodic reassessments and adjustment of services should be provided with all children. Given the likelihood of severe speech impairment strong consideration should be given to early training with alternative and augmentative communication devices. Children may benefit from treatments used in the treatment of autism spectrum disorder such as applied behavioral analysis ABA therapy targeted to the strengths and weaknesses of each child.

A developmental pediatrician can help with management of behavioral issues and medication considerations, while more serious aggressive behaviors may be helped by a pediatric psychiatrist. In these individuals who have limited communication, potential medical issues such as severe constipation that might adversely impact behavior should be considered.

Constipation is very common with Pitt-Hopkins and usually standard measures such as high fiber diets or laxatives are sufficient. Seizures that may occur are generally well controlled by anticonvulsants that can be individualized by a neurologist. Most individuals with Pitt-Hopkins will benefit from glasses and some may need surgery for crossed eyes that fail to self-correct. Regular ophthalmology exams are recommended. These centers are devoted to the diagnosis and comprehensive treatment of this disorder and to further research to better understand this disorder.

The Pitt-Hopkins Research Foundation manages a family registry.

Autism Spectrum Disorders

A registry is a special database that contains information about individuals with a specific disorder or group of conditions. Each issuein the series is written specifically to provide relevant informationand guidance for others involved in educating individuals with spe-cial needs. Apart from theoretical knowledge, these eBooks providepractical advice and examples that can be applied immediately bythe readers. Assessing andEducatingChildren Suspectedof HavingDevelopmentalDisabilitiesThis issue outlines steps totake if you suspect a childhas autism or another devel-opmental disability, includingreferring the family to trainedprofessionals and providing possible interventions thatmay be implemented.

Living in the MainstreamThis eBook discusses how society canmake an effort to adjust to the specialneeds of individuals and implementanti-discriminatory practices to acceptthem into the mainstream. Supporting the PlayDevelopment of YoungChildren with SpecialNeedsThis eBook discusses how play maybe used to help children with specialneeds, such as those with autism, todevelop essential skills to help themsurvive despite the impairments theyhave.

Teachers SurvivingInclusion ProgramsThis issue addresses success fac-tors in the inclusion of children withdisabilities in general educationclassrooms, drawing on key researchfindings. A Critical Overview ofthe Possible Causes ofAutismThis issue provides a thorough re-search base on the possible causesof autism from various perspectives— genetics, medical, environmental,etc. Thesewell-researched webcasts are led by experts in thefield, including Board Certified Behavior Analysts andSpeech Pathologists, and provide up-to-date trainingon fundamental ABA techniques and intervention strat-egies used in the treatment of individuals with ASD.

Get all thetraining you could want for a one-time flat rate forone user! Teaching Early Language Flash Card SetsOur downloadable flash card sets are designed toteach early language skills using a simple, easy touse format. Each set contains three different exam-ples of each object and an instruction card to ensureaccurate implementation of the lessons, even forthose unfamiliar with ABA instruction techniques. Every card uses high-quality, attractive images toengage students throughout the learning process.

The goal of visual schedules is to provide aportable, easy-to-use, visual roadmap to com-plete basic and important daily and life skillswith greater efficiency and independence. By offering repetitive examples, thesestories help individuals with ASD understand howto respond and learn to communicate effectively incommon social situations. Our social stories come with:- Full page colored book: 8.

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Each webcast, literature summary and eB-ook contains highly informative content criti-cal to the development of skills in individuals with ASD. Our CommunicatingBasic Needs App, designed and tested by Board Certified Behavior Analysts,has proven to be very successful in facilitating basic communication with indi-viduals with ASD and other language delays.

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Each webcast is delivered by experts with more than 50 years of collec-tive experience in ABA. Choose from a library of more than 30 titles, whichprovide up-to-date information for providers and educators as they strive toassist students in moving up the skills spectrum successfully. Our School Solutions BasicPlus bundles contains differentiated training and informa-tional supplements on critical topics related to autism andautism treatment.

A comprehensive training program, informationalsupplements and highly effective teaching tools will assisteducators in continuing to help students attain greater suc-cess and independence. All of our mobile apps are ground-ed in evidence-based methods, de-veloped under the guidance of BoardCertified Behavior analysts BCBAs and organized in a manner found tobe successful in practice. Each of ouruser-friendly apps utilizes high reso-lution photos that are engaging to us-ers of all ages. An additional aspect of medical assessments for children with autism spectrum disorders related to eating and feeding issues has been suggested.

Since the late s, abnormal gastrointestinal functioning of many individuals with autism spectrum disorders has gained increasing recognition and concern.

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Research by pediatric gastroenterologist Tim Buie and gastroenterologist Arthur Krigsman suggest that at least half of all children with autism spectrum disorders have clinically significant gastrointestinal symptoms. These researchers have conducted intestinal biopsies and other assessments and have found unique forms of inflammatory bowel disease including enterocolitis, esophagitis, and gastritis in children with autism spectrum disorders. Buie, along with others suggest evaluation for abdominal pain, GERD, and chronic constipation might be important for some children with autism Buie et.

For some individuals, treatments of these digestive system abnormalities have led to varying degrees of improvements in the core symptoms of autism spectrum disorders, including behavior, communication and social skills. The main treatments for this abnormal inflammatory bowel disease include diet, treatment of gut yeast, and supplemental enzymes. More information can be found about biomedical treatments related to gastrointestinal problems and autism spectrum disorders in books by Martha Herbert and a few others.

These books are listed at the end of this article. In , the Autism Research Institute ARI established a forum for researchers to share information on various medical and neurological comorbidities they were finding in children with autism. Currently, ARI offers Continuing Medical Education webinars that can be reviewed by professionals as well as families and all other interested individuals. Different diets seem to help some people with autism spectrum disorders.

The Specific Carbohydrate Diet Gottschall, is also of interest among families of children with autism spectrum disorders. This approach certainly does not work for everyone, is very individualized and is a substantial commitment to most families if or when they begin.

When a child is continually refusing food or having other feeding or eating difficulties, it is important to evaluate any possible medical problems and determine factors to be addressed medically that will maximize feeding and eating success. Unfortunately, some children do not seem to have much appetite at all.

Challenging 5 Anorexia Food Rules - Eating Disorder Recovery

They may not have the ability to feel or interpret the feeling of hunger. Food allergies and food intolerance should also be considered as part of medical testing. Eating disorders are complex and continue to be studied among various populations. Eating disorders such as failure to thrive, rumination, pica, obesity and anorexia nervosa can affect children with autism spectrum disorders.

Children experiencing these problems are at risk for serious health and growth problems that can lead to life threatening consequences. Pica, the ingesting of non-nutritious substances, is a behavior that can start at any point in life under various circumstances. Obviously the child should be closely supervised and kept away from substances related to this pica behavior. There are multiple causes and treatments for pica.

A knowledgeable professional can assess and address pica. Nutritional deficiencies, sensory stimulation, lack of ability to discriminate non-edible items, and relief of anxiety are all possible factors that can lead to pica. Rumination is the persistent regurgitation, re-chewing, re-swallowing, or occasionally vomiting of previously eaten foods and is a second behavioral problem of eating that can have serious health consequences. The causes of rumination are not clear but are thought to begin due to gastro-intestinal disorders and continue due to the self-stimulatory rewards the individual experiences.

Rumination is a relatively rare disorder; the best course of action is an appropriate medical assessment and treatment. Behavioral interventions may be appropriately designed and implemented once medical issues have been thoroughly addressed. Behavioral issues, when severe, will also need to be assessed and treated medically. Children with extreme food selectivity issues are frequently dealing with many environmental factors related to sensory modulation and regulation.

Selective eating can have significant developmental and health consequences. Extreme selective eating problems are often seen paired with strong negative reactions to the introduction of new foods. Mild selective eating is common in all toddlers and young children according to a variety of studies. It cannot be emphasized enough that the issue of concern for a significant number of children on the autism spectrum is extreme food selectivity.

Extreme food selectivity, when related to environmental and sensory issues, can be addressed successfully in many cases. The place to start is to analyze eating habits and then sensory variables. The following questions should be answered: what foods, with whom, where, when and how does the child eat any foods even if it is just a few foods.

Frequently, there is a pattern to what foods the child eats or where the child eats successfully. A description of common sensory processes related to eating and the various sensory factors are discussed below. Do you know what sensory inputs are motivating to your child? Is your child avoiding certain sensory inputs?

Some children with autism spectrum disorders will eat mostly foods that fit into only one of these four categories: sweet, sour, bitter or salty. It is common, for example, that a child will choose to eat mostly or only foods that are salty and not be interested in sweet foods. This pattern may alarm parents and motivate them to seek information and help. There are some children who seem to figure out that all food tastes better to them with catsup or occasionally some other condiment. This may mean that cold foods such as ice cream or popsicles are not tolerated and that foods that are cooked need to be cooled to room temperature before the child will eat them.

It is also common for children with autism spectrum disorders to have a strong preference for one particular texture of foods such as crunchy or smooth. Mashed potatoes must be the same consistency each time for example. When introducing new foods, it is important to consider introducing foods that are of the similar texture or which can be modified to be of similar texture. Some children have a harder time, then typical children, transitioning from foods they can eat with their fingers to foods that are eaten with utensils. The transition from the bottle can also be more problematic for children on the autism spectrum.

Some children with an autism spectrum disorder are much more affected by the smell of food. The smell of foods that are not familiar and comfortable may affect their ability to eat. This may affect their ability to go places outside of their home to eat. It is common for parents to share that their child only eats foods of one color such as only white or orange foods.

Many children on the autism spectrum will only eat something if it is presented each time in the same type of plate or container. When developing a plan for expanding the number and variety of foods a child will eat, it is important to be calm and not controlling. In fact, the most successful experiences are when the child is given some control or at least they perceive that they do have some control. Struggles over eating most often make matters worse.

Gradual exposure to new foods can be very important.


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