Pitt-hopkins syndrome

Pitt-Hopkins syndrome (PTHS) can affect a person’s ability to talk. Some children will be able to speak a few words, but most children will not speak. Speech therapy is essential in helping children learn to communicate without speech. Electronic communication devices are recommended and help them communicate. Parents of affected children should talk to their doctor and entire medical team about how PTHS may affect talking and what interventions are available to help them communicate. The American Speech-Language-Hearing Association (ASHA) can provide support and assistance for communication problems.

Pitt-Hopkins syndrome (PTHS) wasn’t identified as a disorder until 1978. The altered gene that causes the disorder, TCF4, wasn’t identified until 2007. This are relatively "new" discoveries in medicine. This means a lot about PTHS is unknown. Doctors do not fully understand how changes in the TCF4 gene cause the signs and symptoms of the disorder. They are not even sure what are universal symptoms of the disorder. For example, doctors once thought that the breathing problems affected most children with the disorder, but now realize that is not accurate. As doctors identify more people with the disorder and more research is conducted, they will be able to answer many of these questions and they will get closer to finding effective treatments.

Pitt-Hopkins syndrome is abbreviated PTHS in order to avoid confusion with other disorders. Other rare disorders, specifically Pallister-Hall syndrome and Parkinson-Hyperpyrexia syndrome, are already abbreviated PHS.

In most instances, with Pitt-Hopkins syndrome (PTHS) both parents are unaffected. Neither parent has a gene change affecting the TCF4 gene. In extremely rare instances, a parent may have a TCF4 gene change in some of the cells of their body, but not all of them. This is called germline mosaicism. These parents are at risk of passing the gene change (and PTHS) on to their children.

Parents of a child with PTHS can be tested to see whether they have a TCF4 gene change in some cells of their body. However, this is an extremely unlikely happening. Most instances of PTHS occur randomly and the affected child is the first person in the family to have the disorder.

Support groups can put you in contact with other people or families that have Pitt-Hopkins syndrome (PTHS). Support groups for PTHS include the Pitt-Hopkins Research Foundation and the Chromosome 18 Registry and Research Society.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The medical cost of Pitt-Hopkins syndrome (PTHS) can be significant. Some families lack the resources necessary to provide for a chronically ill or disabled child. There are several organizations that provide financial assistance.

The Social Security Administration provides disability benefits for people who qualify. PTHS is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with PTHS may still qualify for assistance if they have certain symptoms that qualify.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with Pitt-Hopkins syndrome (PTHS). If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for PTHS include: the Pitt-Hopkins Research Foundation and the Chromosome 18 Registry and Research Society.

Doctors may perform an electroencephalogram or EEG on children suspected of having Pitt-Hopkins syndrome (PTHS). An EEG is a test that measures the electrical activity of the brain. A child may have abnormal EEG readings even if they don’t have epilepsy. Another test that doctors may run is called magnetic resonance imaging or an MRI. An MRI uses a magnetic field and radio wave energy of various organs or tissue in the body. Doctors will order an MRI of the brain, which can show mild brain changes in children with PTHS. This can include underdevelopment of the corpus callosum, a band of nerve fibers that connects the two hemispheres of the brain.

Molecular genetic testing is used to confirm a diagnosis of PTHS in a child suspected of having the disorder. These tests involve studying the TCF4 gene for changes that cause the disorder. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or gene-targeted deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

People with Pitt-Hopkins syndrome (PTHS) are believed to have a normal lifespan. Some symptoms like seizures can cause life-threatening issues. Because one child may have different symptoms than another child, making individual predictions about life expectancy is difficult. People with PTHS will face many challenges and will likely need continued care as adults.

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by changes in the TCF4 gene. There are two disorders called Pitt-Hopkins-like disorders 1 and 2. These disorders have extremely similar signs and symptoms to PTHS. Doctors may confuse these disorders with PTHS. However, they are caused by changes in different genes. Pitt-Hopkins-like syndrome 1 is caused by changes in the CNTNAP2 gene. Pitt-Hopkins-like syndrome 2 is caused by changes in the NRXN1 gene.

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Because of a change in a specific gene, people with PTHS lack a protein. This protein is a transcription factor or gene regulating protein – they bind to DNA and regulate the expression of other genes. The lack of this protein can lead to lots of different problems in the body, particularly the brain and central nervous system. Children with PTHS can have different symptoms. Common signs or symptoms include moderate to mild intellectual disability, delays in reaching developmental milestones, breathing problems, distinctive facial features, seizures, and behavioral problems. Some children learn to speak a few words, but many do not speak at all. Children can have autistic-like behaviors and PTHS is considered an autism spectrum disorder. PTHS is usually caused by alterations (mutations) in the transcription 4 (TCF4) gene. Most of these alterations occur randomly and are not inherited from a parent.

There are two brothers reported in the medical literature who have Pitt-Hopkins syndrome from a gene change passed on from one of their parents. The boys’ mother had a gene change in the TCF4 gene in some of her cells. This is called mosaicism. Depending on which cells are affected, the parent may not have any symptoms of PTHS. The boys’ mother was unaffected, but she passed on the gene change to her children. Genetic mosaicism is extremely rare. Nearly all children with Pitt-Hopkins syndromes have a random gene change in the TCF4 gene and the disorder is not inherited.

Pitt-Hopkins syndrome (PTHS) is caused by gene changes in the TCF4 gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

To find a medical professional nearby who can discuss information about gene changes in the TCF4 gene and PTHS, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Pitt-Hopkins syndrome (PTHS) is caused by a change (variant) in the TCF4 gene. Not all changes in a gene necessarily cause disease. If a change is known to cause PTHS, it is known as a pathogenic or disease-causing variant. Sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If your child has a variant of unknown significance in the TCF4 gene, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. To find a genetic counselor near you who can discuss testing and results, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Rare diseases that affect multiple organ systems like Pitt-Hopkins syndrome (PTHS) can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for neurological disorders (neurologist) who will monitor the function and health of the central nervous system and brain; a lung doctor (pulmonologist) who can monitor lung function and health and treat breathing problems; an eye doctor (ophthalmologist) who can monitor and treat eye health; a specialist in digestive disorders (gastroenterologist) who can treat problems of the gastrointestinal system like constipation; a genetic counselor who can help people understand the disease and the implications for the person and other family members; a child behavior specialist; and a metabolic disease specialist.

Talk to your doctor about the best specialists in your area to follow an individual with Pitt-Hopkins syndrome.

When infants and children have a chronic disorder like Pitt-Hopkins disease, it demands a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

Children with Pitt-Hopkins syndrome (PTHS) can have many different signs and symptoms. The specific ones can be different in one child compared to another. Infants with PTHS have a lack of muscle tone so that they are described as "floppy" like a rag doll, a condition called hypotonia. Infants and children will also have delays in reaching developmental milestones, speech problems with most children unable to speak, delays in motor skills with many children unable to walk until 4-6 years of age. Children are described as having moderate to severe intellectual disability, but it can be difficult initially to measure a child’s intelligence because of speech and motor problems.

Seizures may start in infancy or as late as young adulthood. Most commonly, they start before school age. PTHS is considered an autism spectrum disorder. Children are described as lovable and smiling with a happy disposition, but they may have trouble engaging socially and issues with verbal and nonverbal communication. Anxiety, agitation and outbursts of aggression, particularly when there is a sudden change in routine, has been reported as well. Children may make repetitive hand movements including flapping, clapping, hand to mouth motions, and rubbing the hands together.

Some children will have episodes where they breath very rapidly followed by holding their breath. These episodes can cause a lack of oxygen in the blood, which can lead to cyanosis, a bluish or purple discoloration of the skin. Sometimes this can cause a child to pass out.

Gastrointestinal issues including constipation and gastroesophageal reflux are common.

Children with PTHS syndrome have distinctive facial features. These features can include deep-set eyes that are set farther into the skull than usual, wide nostrils, a prominent bridge of the nose, downturned tip of the nose which can appear pointed, widely spaced teeth, and a wide mouth with a double curved upper lip and a full lower lip with a thick border. Some children have nearsightedness (myopia), crossed eyes, or astigmatism.

Children with PTHS will not have all of signs and symptoms associated with PTHS. It is important to understand that every child is unique and what they experience can be different. To find a medical professional nearby who can discuss information about PTHS, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

After a diagnosis of Pitt-Hopkins syndrome (PTHS) is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in the disorder. Support groups such as the Pitt-Hopkins Research Foundation can sometimes provide referrals to physicians or medical centers with experience in treating the disorder. There are at least three Pitt-Hopkins clinical centers at: the University of Texas Southwestern’s Children’s Health; the University of California San Francisco; and at Mass General Hospital for Children.

People diagnosed with PTHS will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

Pitt-Hopkins syndrome (PTHS) is not one of the disorders that is screened for at birth. The disorder often goes undiagnosed until young adulthood. If a baby appears to have health problems that could be caused by PTHS, the easiest way to begin testing for the disorder is to discuss it with the pediatrician or primary doctor. Referral to a metabolic genetic specialist may be necessary. Testing information in your area can also be obtained through a genetic counselor, to find a genetic counselor visit the National Society of Genetic Counselors Find a Genetic Counselor website. Information on how to add a disorder to newborn screening programs can be found at Save Babies Through Screening Foundation or Baby’s First Test.

Children with Pitt-Hopkins syndrome (PTHS) have neurological problems. They may have intellectual and developmental disabilities and behavioral problems. The Arc was founded more than 60 years ago and provides support and services to people with intellectual and developmental disabilities. My Child Without Limits is a nonprofit organization that provides resources for families with children between birth and 5 years old who have developmental delays or disabilities.

As of November 2016, there are no trials for Pitt-Hopkins syndrome listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not an exhaustive list of current research. The Pitt-Hopkins Research Foundation may have information on research into the disorder. For the most up-to-date list, contact clinical trials.gov and search for Pitt-Hopkins syndrome.

There is no one treatment that can improve all of the symptoms of Pitt-Hopkins syndrome (PTHS). Treatment is aimed at the specific symptoms of the condition. PTHS causes intellectual disability, seizures, speech impairment, delays in reaching developmental milestones, breathing problems, behavioral issues, and constipation.

Children will benefit from special services including physical therapy, occupational therapy, and speech therapy. Speech therapy includes the use of augmentative and alternative communication. This includes all methods of communicating without speech. This includes sign language, body language, and electronic devices that create voice output. Special education classes are recommended. Behavioral medication therapy can help with self-injurious behavior.

Medications have been used to treat breathing problems, seizures, and constipation. Sodium valproate was used to treat breathing issues in one person with PTHS. There are some reports that anti-seizure medications called anticonvulsants have led to breathing problems occurring less often. A medication called acetazolamide led to a decrease in the duration and frequency of breathing issues in two children.

Anticonvulsants are given for seizures based on the type of seizure and may be different for each person.

A high fiber diet and laxatives are used to treat constipation. Constipation can be mild or severe. Severe constipation is a serious condition.

Other treatment depends on an individual’s specific symptoms and follows standard guidelines.

Pitt-Hopkins syndrome (PTHS) can be considered an autism spectrum disorder. Some children may develop autistic symptoms. However, PTHS is a distinct genetic disorder with a known cause – changes in the TCF4 gene. The term "autism spectrum disorder" is a broad term that includes most disorders that cause developmental disabilities.

Pitt-Hopkins syndrome (PTHS) can be classified as a pervasive developmental disorder (PDD). PDD is a broad term that includes many different disorders. These disorders are share similar symptoms, specifically problems or delays in a child’s socialization and communication abilities. Socialization is the ability of a person to recognize societal norms and customs and build personal relationships. Autism is a type of PDD. Children with PTHS are described as loving and happy, but they may also have behavioral issues including autistic symptoms, problems with socialization and cannot speak.

Gene therapy is being studied for Pitt-Hopkins syndrome (PTHS). Gene therapy replaces the defective gene in a person with an unaffected one that can produce the necessary protein, in the case of PTHS the missing transcription factor. In August 2016, the Pitt-Hopkins Research Foundation awarded a grant to two physicians at the University of North Carolina to study gene therapy for PTHS. As of November 2016, gene therapy has not been approved by the U.S. Food and Drug Administration for the treatment of any disorder.

This is very common question about a lot of genetic disorders. Pitt-Hopkins syndrome (PTHS) is called a genetic disorder because we know it is caused by a change or mistake in the body’s genetic instructions. Children with PTHS have a gene change affecting the TCF4 gene. However, just because a has a genetic cause that does not mean that the disorder is inherited. Sometimes mutations, or gene changes, are passed through families. Mutations can also happen at random. Almost all children with PTHS do not have an affected parent. The gene change that affects them happens randomly for no known reason. Talk to a genetic counselor to learn more about the genetics of PTHS. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In Pitt-Hopkins syndrome (PTHS) almost all children who have the disorder are the first person in the family with the disorder. This occurs because of a de novo mutation, which means that the altered TCF4 gene occurs randomly, most likely after fertilization. In families with a child with a de novo mutation, the likelihood of having another child with PTHS is extremely low.

In extremely rare instances, parents may have a gene change in the TCF4 gene that is only in some of their cells. This is called mosaicism. The parent will not have symptoms of PTHS, but there is a risk that they can pass the gene change on to their child and this risk exists for every pregnancy.

A person who has PTHS could pass on the gene alteration in an autosomal dominant manner. This means a person only needs one altered TCF4 gene to have the disorder. So, a person with PTHS would have a 50% chance passing on the gene change to a child.

If you have a family member with PTHS and you would like to learn more about the genetics of the disorder, talk to your doctor or meet with a genetic counselor to discuss testing options.

In most instances, Pitt-Hopkins syndrome (PTHS) is not inherited. The disorder occurs because of a "de novo" gene change in the TCF4 gene. A "de novo" gene change occurs at the time of the formation of the egg or sperm, and will only affect that child. This means that the disorder does not run in the family and the odds of having another child with PTHS is extremely low. The gene change can be a mutation in the TCF4 gene or a loss (deletion) of genetic material that includes the TCF4 gene.

In extremely rare instances, parents may have a gene change in the TCF4 gene that is only in some of their cells. This is called mosaicism. The parent will not have symptoms of PTHS, but there is a risk that they can pass the gene change on to their child and this risk exists for every pregnancy.

PTHS is an autosomal dominant disorder. We have two copies of every gene – one from our mother and one from our father – for a dominant condition, only one of them needs to have the problem.

If you have a family member with PTHS and you would like to learn more about the genetics of the disorder, talk to your doctor or meet with a genetic counselor to discuss testing options.

Because of a change in TCF4 gene, people with Pitt-Hopkins syndrome (PTHS) lack a protein or produce an ineffective protein. This protein is a transcription factor or gene regulating protein – it binds to DNA and regulates the expression of other genes. This protein is extremely important in the proper function of the brain and the central nervous system. Without this protein to regulate other genes, the signs and symptoms of PTHS develop.

A doctor may suspect a diagnosis of Pitt-Hopkins syndrome (PTHS) because of the presence of certain symptoms. PTHS may be suspected because symptoms begin around 6 months or age and include muscle weakness and generalized floppiness in infants, delays in reaching developmental milestones, speech impairment, intellectual disability, seizures and other symptoms and signs commonly seen with the disorder. To confirm a diagnosis, a doctor may recommend genetic testing. These tests involve studying TCF4 gene for changes (mutations).

If you believe that you or your child has PTHS, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition. The Pitt-Hopkins Research Foundation can also provide referrals to physicians or medical centers with experience treating PTHS.

If you suspect that someone in your family has PTHS, you should also talk to a genetic counselor in your area.

To learn about ongoing clinical research into Pitt-Hopkins syndrome (PTHS) ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for PTHS can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for PTHS include the Pitt-Hopkins Research Foundation.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a center or clinic that specializes in Pitt-Hopkins syndrome (PTHS). There are three centers in the United States that specialize in the treatment of patients with PTHS: the University of Texas Southwestern’s Children’s Health; the University of California San Francisco; and at Mass General Hospital for Children.

At most centers that specialize in rare disorders, you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need.

Children with Pitt-Hopkins syndrome (PTHS) can attend school. They may attend a special school or be in a class for children with disabilities. Children with PTHS may need special accommodations. Because they may need special accommodations in school, they may eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on PTHS and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

More than 200 people with Pitt-Hopkins syndrome have been reported in the medical literature. According to the Pitt-Hopkins syndrome clinic at the the University of Texas Southwestern’s Children’s Health, about 500 people have been identified with the disorder worldwide. It is likely that the disorder is underdiagnosed. The incidence and prevalence are not known. Incidence is the number of people identified with a disorder in a given year. Prevalence, which is the total number of people with a disorder in a specific population at a given time.

The Pitt-Hopkins Research Foundation gives detailed instructions on several ways families and individuals can raise money for research into Pitt-Hopkins syndrome or to support people with the disorder. These ideas include organizing an event like a race, starting a workplace campaign, starting an email campaign, and creating a GoFundMe page.

Pitt-Hopkins syndrome (PTHS) can affect a person’s ability to walk. However, the disorder affects people differently. Some children will have problems walking; others will not. Most children will have a delay in learning to walk. Some people may eventually need help to get around. Some people may eventually need a wheelchair. Children who do learn to walk without assistance, may walk unsteadily and uncoordinated. Parents of affected children should talk to their doctor and entire medical team about how PTHS may affect walking.

Pitt-Hopkins syndrome (PTHS) is caused by a change in the TCF4 gene. Doctors believe that PTHS may be influenced by genetic modifiers and environmental factors. Although PTHS is caused by changes in the TCF4 gene, other genes may influence how severe the disorder is or what symptoms occur. These genes are called genetic modifiers. An environmental factor is something in the environment that interacts with a person’s genetic makeup. There are two brothers with the same gene change for PTHS; one had significant symptoms including severe intellectual disability, while the other had milder symptoms and less severe intellectual disability. Doctors are studying PTHS to try and identify other genes or factors that influence the disorder.

Children and adults with Pitt-Hopkins syndrome (PTHS) must be followed closely by their doctor and entire medical team. Routines examinations are necessary to assess developmental progress or problems, eye problems and other potential symptoms. Children and adults should also have regular consultations with a clinical geneticist or genetic counselor to keep up-to-date on the most current information about PTHS. The frequency of these evaluations will vary depending of the severity of PTHS in the individual. Your doctor and medical team will work with you to development a schedule for surveillance.

In a family with an increased risk of Pitt-Hopkins syndrome (PTHS), parents may choose to have their child tested before they are born. This is known as prenatal diagnosis. If the gene change(s) that causes PTHS are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the TCF4 gene. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for changes in the TCC4 gene. There are risks to the unborn baby of doing these tests before birth. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis.

There are no other names that are used for Pitt-Hopkins syndrome. The disorder is abbreviated PTHS.

There are a couple support groups or organizations for Pitt-Hopkins syndrome (PTHS) that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for PTHS include the Pitt-Hopkins Research Foundation and the Chromosome 18 Registry and Research Society.

There are also organizations that can provide support for specific symptoms of PTHS including The Arc, which provides support for people with intellectual and developmental disabilities; the Epilepsy Foundation, which provides support for people with seizures; and the National Institute for Child Health and Human Development.

Infants with Pitt-Hopkins syndrome (PTHS) show symptoms within the early stages of life. The first few years of a child’s life are critically important to a child’s development. States have federally-funded early intervention programs that support families that have concerns or issues with their children’s development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provides information about early intervention programs and assistance.

An unusual finding in some children with Pitt-Hopkins syndrome are episodes of rapid breathing followed by breathing slowing or stopping altogether. A child’s skin may even turn blue from lack of oxygen, a condition called cyanosis.

The signs and symptoms of Pitt-Hopkins syndrome (PTHS) are very common in several other rare genetic disorders. Three disorders that need to be differentiated from PTHS are Mowat-Wilson syndrome, Angelman syndrome, and Rett syndrome. There are two disorders called Pitt-Hopkins syndrome-like 1 and 2. These disorders are very similar to PTHS. Many of the children have severe intellectual disability, a lack of speech, and breathing problems. However, they are caused by gene changes in different genes and usually children do not have the distinctive facial features commonly seen in PTHS.