Development disabilities

What is Fragile X Syndrome: A Guide for Parents

​​​Fragile X syndrome (FXS) is one of the more common known causes of intellectual disability that can run in families (inherited). FXS is caused by a change in the genetic material in each cell of the body. This change in genetic material makes it hard for cells to produce a protein that is necessary for normal brain development and normal brain function. As an inherited condition, FXS can be passed on to the next generation.

FXS Symptoms:  

People with FXS may have some or all of the following symptoms:

  • Walking, talking, or toilet training later than other children of the same age
  • Problems with learning
  • Trouble making eye contact
  • Frequent ear infections
  • Trouble sleeping
  • Seizures
  • Autism
  • Sensory difficulties (trouble with what a person sees, hears, smells, tastes, and touches)

Currently there is no cure for FXS, but an early diagnosis can help a family get treatment and services for their child sooner, and having a diagnosis may provide valuable information for other family members.

Myth Busters for Families:

MYTH: I thought my child was tested for FXS when I was pregnant or after my child was born?

  • FACT: FXS requires a special blood test that is not usually included in the genetic tests that a pregnant woman gets or in the tests done right after a baby is born. The only way to diagnose FXS is with a special blood test called the “FMR1 DNA Test for Fragile X.”

MYTH: I thought girls couldn’t have FXS, and boys always have severe symptoms.

  • FACT: Both boys and girls can have FXS. The symptoms are usually more severe in boys than in girls, but both boys and girls can have symptoms that range from mild to severe.

MYTH: Does everyone with FXS have large ears or a long, narrow face?

  • FACT: Many people with FXS do not have certain physical traits that textbooks attribute to FXS. However, some people with FXS do have some of these physical features. These features can be seen in younger children, but some may not show up until puberty.

MYTH: If there is no cure for FXS, why does my child need a diagnosis?

  • FACT: Even though there is no cure for FXS, there are educa­tional, behavioral, and therapeutic services which can help. A diagnosis may also help families with family planning and connecting with support groups of other families affected by FXS.

MYTH: How can my child have FXS? We don’t have a family history of FXS.

  • FACT: FXS is caused by a change in genetic material that ranges in size, and can become bigger from one generation to the next. Small size changes typically do not cause FXS, but large size changes often do cause FXS. Therefore, a person can have FXS without a family history if that person inherits a large change in the size of the genetic material while everyone else in the family has small size changes. Families who do not have FXS but have small size changes can have other signs that FXS could occur in future genera­tions. These families have members that may have fragile X-associated disorder symptoms, such as tremors and early menopause, which could be identified through a more thorough evaluation of family history.

What to Do If You Think Your Child Might Have FXS:

  • Talk to your doctor about genetic testing if your child is not sitting, walking, or talking at the same time as other children the same age, has trouble learning new skills, or has social and behavioral problems like not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active.
  • Talk to your family to see if anyone remembers a history of “Parkinson-like” tremors in older men on the mother’s side of the family, or a history of early menopause or fertility problems in women on the mother’s side of the family. These are symptoms of fragile X-associated disorders, which suggest that FXS could run in the family.

What to Do If Your Child Has Been Diagnosed with FXS:

Early intervention services in each state help children from birth to 3 years old learn important skills. You can ask to have your child evaluated, and these services may improve your child’s development. Even if your child has not been diagnosed with FXS, he or she may still be eligible for services.

  • Work with your child’s pediatrician to get care and services for your child.
  • Contact the organizations who work with FXS families and become familiar with FXS resources.
  • Consider joining a local group of FXS families to share information and support each other.
Development disabilities

What is Early Intervention?

If a screening or concern shows that a child is at risk for a developmental disorder, he should be referred to the state early intervention (EI) program.

What is Early Intervention (EI)?

The EI Program is a federal grant program run by individual states under Part C of the Individuals with Disabilities Education Act that works with children ages 0-3. Also called the “Program for Infants and Toddlers with Disabilities,” EI targets children who show a delay in cognitive, social, or communication skills. These children may also have a delay in physical or motor abilities or self-care skills.

Who Can Refer a Child to EI?

Anyone can refer a child to EI, including:

  • Pediatricians
  • Parents
  • Grandparents
  • Child care providers

The child does not even need a diagnosis. The EI program’s team of specialists will test and evaluate the child to see if he qualifies for the program.

Individualized Family Service Program (IFSP)

If, after the initial evaluation, a child is eligible for the EI program, you will receive an Individualized Family Service Program (IFSP), which explains the services recommended for your child and how EI will help you and your family support your child.

The IFSP will:

  • Describe your child’s current developmental levels
  • Ways to improve your child’s development
  • Outcomes you can expect
  • Outline the specific services that you and your family will receive
  • Goal dates for starting and ending services

In addition, the IFSP will provide information on how EI will help the child and family transition to school services when the child turns three. The IFSP should be developed with the family’s values in mind and be supportive of the family’s routine and priorities.

EI Service Providers

Service providers in an EI program include many types of professionals such as:

  • Social workers
  • Speech therapists
  • Occupational therapists (Ots)
  • Physical therapists (PTs)​
  • Registered dietitians
  • Developmental therapists
  • Psychologists

Services may be provided in your home or in the community.

Paying for EI

Payment for EI services varies from state to state. Nevertheless, all states must provide at least some services free of charge.

Experts agree that EI is an essential component in the early treatment of autism and other developmental problems. The program has shown to be beneficial to socially disadvantaged children who do not have an ASD and often leads to less need for special education services for those children later on. Early intervention also helps overall family function and improves outcomes for children who have a biologically based disorder such as an ASD.

Additional Information

You can get information about your state’s EI program from your pediatrician, the state health department, or the local school district.

Development disabilities

What is Asperger Syndrome?

​Until May 2013, the term “Asperger syndrome” was used to describe a child who had some shared characteristics as children diagnosed with autism​. Asperger syndrome was considered one type of autism. 

Changes in DSM-5

Doctors use the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) to assist in diagnosing mental disorders. DSM lists definitions for behavioral, developmental, and psychiatric disorders. Several conditions used to be diagnosed separately under the term “pervasive developmental disorders” or “autism spectrum disorders” in the DSM. Those conditions were:

  • Autistic disorder
  • Pervasive developmental disorder—not otherwise specified (PDD-NOS) 
  • Asperger syndrome

With publication of the fifth edition of the DSM in May 2013, these terms listed above are no longer used and these conditions are now grouped in the broader category of autism spectrum disorder or ASD.

Development disabilities

Social and Economic Factors Associated with Developmental Disabilities

Children who grow up in environmental circumstances of social and economic disadvantage are more likely to have developmental disabilities.

Maternal Risk Factors:

  • Povert
  • Low socioeconomic status
  • Mental illness
  • Substance abus
  • Living in communities where environmental hazards are plentiful and resources are limited

Prenatal & Perinatal Risk Factors:

  • Preterm birth
  • Low birth weight
  • Central nervous system abnormalities
  • Prolonged hospitalizations that can drain family resources and interfere with parent-infant bonding

Children in Poverty: Complex and Far-Reaching Risk Factors 

For many children, the environmental risks are compounded during their early years. Poverty remains one of the most complex and far-reaching risk factors, because it affects so many aspects of the life of a child.

In 2006, approximately 1 in 5 US children younger than 6 years and 16% of children ages 6 to 17 years lived in poverty. The rate for children of all ages living in single female-headed families was 42%. During that same year, approximately 17% of children (12.6 million) lived in households with food insecurity. Children who were impoverished were also more likely to have a blood lead level of 10 μg/dL or greater. Children living in poverty are 1.7 times more likely to be born at a low birth weight.

Cycle of Disadvantage: Difficult to Escape

Too often, children and their families are trapped in a cycle of disadvantage and disability that is difficult to escape unless interrupted by outside social forces or the extraordinary efforts of individuals and families.

Development disabilities

Sensory Integration Therapy

Sensory integration is a term that has been used to describe processes in the brain that allow us to take information we receive from our 5 senses, organize it, and respond appropriately. We also have a vestibular sense (balance) that tells us how to position our bodies and heads, and a proprioceptive sense (awareness of body in space) that helps us know what we do with our joints, muscles, and ligaments.

Sensory Processing Deficits and Children with Autism Spectrum Disorders (ASDs)

In children who have ASDs, sensory processing deficits have been theorized to cause difficulties that affect behavior and life skills. As a result, some children may be hypersensitive or hyposensitive to stimuli in the surroundings. Loud music, for instance, may cause intense discomfort, while bright fluorescent lights that bother others may be riveting to some children with ASDs.

Children with sensory processing deficits may have difficulty with motor skills, balance, and eye-hand coordination.

Some children will look for ways to seek out certain sensations and engage in self-stimulating behaviors like rocking back and forth, head banging, and oral exploration of nonedible objects.

What is Sensory Integration Therapy?

Sensory integration therapy, which was developed in the 1970s by an OT, A. Jean Ayres, is designed to help children with sensory-processing problems (including possibly those with ASDs) cope with the difficulties they have processing sensory input. Therapy sessions are play-oriented and may include using equipment such as swings, trampolines, and slides.

Sensory integration also uses therapies such as deep pressure, brushing, weighted vests, and swinging. These therapies appear to sometimes be able to calm an anxious child. In addition, sensory integration therapy is believed to increase a child’s threshold for tolerating sensory-rich environments, make transitions less disturbing, and reinforce positive behaviors.

Effectiveness of Sensory Integration Therapy

Although there are scientific studies to show that children with ASDs are more likely to have sensory-processing problems, the effectiveness of sensory integration therapy as a therapy for ASDs is limited and inconclusive. While this does not mean that the therapy might not be helpful in some children, effectiveness so far is mainly based on personal experiences.

Talk with your child’s pediatrician if you suspect that your child has difficulties with sensory processing; there may be resources in the community for further evaluation.

Other Methods for Controlling Sensory Input

You may also learn about auditory integration training or behavioral optometry as methods for controlling sensory input. Both treatments aim to alter the child’s response to sensory stimuli, but neither method has proved to be scientifically valid. Also, there is no evidence that any problems seen with ASDs are related to these auditory or visual problems.

Development disabilities

Outlook for Children with Intellectual Disabilities

What is the outlook for children with intellectual disabilities?

About 2 percent to 3 percent of children are considered intellectually disabled (formerly called mentally retarded). Their general intelligence is significantly below average, and they have difficulty adapting to their environment.

As measured by standardized tests, the average IQ (intelligence quotient) is 100; normal ranges from 90 to 110. The degree of an intellectual disability depends upon how far below this normal range a child’s IQ falls. Experts use these lower IQ scores to label a child as mildly, moderately, severely or profoundly retarded. The majority of children with below-average IQ scores are not considered to have an intellectual disability, but below average, with test scores between 70 and 89.


The diagnosis of an intellectual disability can be made only by a certified psychologist capable of administering, scoring, and interpreting a standardized intelligence or cognitive test. The psychologist must also be able to observe and assess adaptive behavior.

Although screening for developmental delays and intellectual disabilities is a central part of pediatric care from birth onward, some children with mild intellectual disabilities and developmental disabilities are not identified until the early school years. Early identification is critical to a better outcome, because a child’s developmental handicaps are not necessarily fixed or set, and in fact they are often responsive to appropriate treatment.

Adaptive behavior enables children to interact with, adjust to, and meet the demands of other people and day-to-day living. Specific adaptive behavior includes a child’s motor skills, communication abilities, self-help and independent living skills (eating, dressing, toileting), and other everyday skills (using public transportation, maintaining an appropriate job, taking care of a house).


Intellectual disabilities can have a variety of causes, including hereditary disorders such as phenylketonuria (PKU), early alterations in the embryo’s development (Down’s syndrome), and exposure to toxic substances (alcohol) or infections while the child is in the mother’s uterus. Problems in labor and birth that put stress on the baby, or problems after birth like injuries to the brain, can result in an intellectual disability and/or loss of specific functions, such as memory or language abilities. In most cases the cause of intellectual disabilities is not known, having no specific identifiable source.


By middle childhood most youngsters with an intellectual disability have already been assessed and provided with an appropriate school setting. If you have a intellectually disabled child, she is entitled to an education just as any other youngster is. Federal law mandates evaluations to identify children with suspected handicaps and to provide appropriate services for them.

As children with intellectual disabilities progress through the school system and through their own developmental stages, they require an evolving training and/or educational program that is appropriate for their abilities and responsive to their needs and the needs of their families. Initially, these children may need help in acquiring the basic developmental skills (fine and gross motor skills, speech and language skills) that are within their capabilities. As children acquire competence in these areas, they are better able to learn academic and other school-related skills.

Even so, these children still require a special educational setting with more individual attention and support. This is especially true of youngsters who also have behavior problems. However, some of these children can engage in non-academic activities, such as sports, physical education, art, and singing, with their peers who are not intellectually disabled. Increasingly, children with mild cognitive impairments (i.e., mild intellectual disabilities) are being mainstreamed into inclusion classrooms.

Vocational training

Preparing children with intellectual disabilities for both lifelong vocational pursuits and as much independence as possible is the major goal of their education. Even in the elementary-school years, a child with a particular interest or talent might benefit from special training in or exposure to relevant vocations. Specialized vocational training is a major goal in the high school years.

Severe intellectual disabilities

Children with severe and profound degrees of intellectual disabilities constitute a small percentage of intellectually disabled children. These youngsters lack self-care skills. They communicate poorly and often have behavioral problems including repetitive or self-stimulating behavior. Home care is frequently difficult or impossible for parents, and these children are often placed in residential settings and receive special education. Nevertheless, with new trends and philosophies, many experts feel that these children, especially as teenagers or adults, are best served in smaller, more normal environments such as group homes within the community.

Parents can obtain information, support, and services through medical centers, community schools, respite care programs, family support networks and their pediatricians.

Development disabilities

Occupational Therapy

Children with autism spectrum disorders (ASDs) and other developmental disabilities often have deficits in the areas of fine motor skills, sensory processing, and motor planning.

These can show up as difficulties with basic self-care skills such as:

  • Getting dressed
  • Using a spoon
  • Brushing teeth
  • Play skills, such as building puzzles or using scissors
  • Basic life skills, such as sitting still in a classroom

Occupational therapists often can help with these issues.

Occupational Therapy (OT) Evaluation

An OT evaluates the child’s fine motor skills and sensory processing development and prepares strategies for learning tasks of daily living. These interventions may be delivered in sessions with a therapist and then practiced at home and school. Goals will depend on the needs of the individual child, but occupational therapy strives to help children gain more independence and live a higher quality of life.

Development disabilities

Leukodystrophies in Children

Leukodystrophies are a group of genetic diseases that affect the white matter in the central nervous system (the brain and spinal cord). White matter is tissue that contains nerve fibers, or axons. The protective covering around these nerve fibers is called myelin. Myelin helps the nerves throughout your body communicate with each other.

When you have a leukodystrophy, there are abnormalities in the white matter in your central nervous system. This damages the myelin, disrupting communication between your brain and your body.

Leukodystrophies are rare. Altogether, they occur in about 1 of 4700 live births. A leukodystrophy can show up at any time from birth to late adulthood, but they are more common in children. Most leukodystrophies are progressive, which means they get worse and cause more damage as time goes on.

Types of leukodystrophies

Right now, there are more than 50 different conditions that are considered to be leukodystrophies.

Some of the specific types of leukodystrophy include:

  • Alexander disease
  • Canavan disease
  • Cerebrotendinous xanthomatosis (CTX)
  • Krabbe disease​
  • Metachromatic leukodystrophy (MLD)
  • Pelizaeus-Merzbacher disease (PMD)
  • Refsum disease
  • Vanishing white matter disease (also known as childhood ataxia with central nervous system hypomyelination)
  • X-linked adrenoleukodystrophy (ALD)

Signs & symptoms of leukodystrophies

In some leukodystrophies, symptoms may start soon after birth or may even be detected prenatally. In others, they may not show up until later childhood or even adulthood.

Each type of leukodystrophy affects different parts of the brain, so the symptoms can vary widely. This means that symptoms depend on which type of leukodystrophy your child has, how old they are, and how much the disease has progressed.

In general, symptoms in infants may include:

  • Developmental delay or developmental regression (loss of previously achieved milestones)
  • Seizures​
  • Abnormal eye movements
  • Abnormal head growth (microcephaly or macrocphaly)

In children, adolescents, and adults, symptoms may include:

  • Developmental delay or regression (loss of previously achieved milestones)
  • Seizures
  • Changes in behavior
  • Cognitive problems, including problems with attention
  • Vision changes
  • Balance or coordination problems

What causes leukodystrophies?

Leukodystrophies happen because of a mutation in one of the genes that affects how myelin works or grows. Frequently, this mutation is inherited from one or both parents. However, sometimes leukodystrophy is caused by a spontaneous mutation that is not inherited.

As a parent, you can have a genetic mutation that’s associated with a leukodystrophy, yet not ever develop the disease yourself. But, since you have the mutated gene, you may pass it on to your children. This means you’re what’s called a carrier.

How are leukodystrophies diagnosed?

Leukodystrophies can be hard to diagnose and the process may sometimes take a long time. Getting diagnosed as soon as possible is important though because treatment can help. In some types of leukodystrophy, treatment may even be able to prevent further damage.

Many states include some leukodystrophies in newborn screenings. You can check with your child’s pediatrician to find out which screenings your child has had.

If your child has symptoms of a leukodystrophy, they may have tests to help diagnose it or to rule out other conditions. These tests may include:

  • Magnetic resonance imaging (MRI) to look at your child’s brain and spinal cord
  • Genetic testing
  • Tests to see how your child’s muscles and the nerves that control them are working
  • Tests that check for hearing and vision loss
  • Other blood tests

Treatment for leukodystrophies

Leukodystrophies are progressive, meaning they usually get worse with time. Your child’s prognosis will depend on what type of leukodystrophy they have.

Leukodystrophy has no cure. Your medical team will work to treat your child’s symptoms. Depending on which type of leukodystrophy your child has, some of the treatments they might have include:

  • Anti-epileptic medications to prevent seizures
  • Medication to help with tight muscles and movement issues
  • Physical, occupational, and/or speech therapy to improve mobility, speaking, and balance
  • Nutritional therapy to help with eating and swallowing difficulties

Stem cell or bone marrow transplantation may help improve certain types of leukodystrophy.

If it’s diagnosed early, one type of leukodystrophy called CTX can be treated with chenodeoxycholic acid (CDCA) replacement therapy.

Researchers are conducting trials to study new treatment options such as gene therapy, enzyme replacement, and certain medications.

Development disabilities

Involving Your Child in the Decision-Making Process: AAP Report Explained

Treatment should never be a process done to your child. Rather, decisions about care should be implemented with your child’s input—as much as possible—with support, guidance, and assistance from you and other care team members.

The American Academy of Pediatrics (AAP) clinical report, Shared Decision-Making and Children with Disabilities: Pathways to Consensus, states that children, when cognitively able, should be involved in decisions about their care. Parents and professionals too often look to this process for “the big decisions,” however smaller decisions can have a significant impact over time.

Presenting children with information—appropriate for their developmental age—can help in their understanding of their condition and treatments, reduce fear, and enhance self-confidence.

Shared Decision-Making Tips for Parents of Children with Disabilities:

  • Educate your child about his or her condition. Find out what your child understands and/or wants to know. Work with your child’s doctors and others in your community to identify books, videos, websites, and other resources to help your child learn about his or her condition.
  • Identify future goals. Have a discussion with your family and your child’s doctors. Start picking out goals for your child’s future—short-term (e.g., within the year) and long-term (e.g., as an adult).
  • Have quick check-ins with your child. Once you have identified the goals for your child and their priority, make sure he or she understands them as fully as possible given his or her level of understanding—especially if things don’t make sense or just don’t feel right.
  • Have your child present. Your child should be present whenever possible for at least part of meetings concerning his or her condition or treatment. Parts of the discussion should address your child directly at his or her level of understanding.
  • Consider who else should be present. Some decisions are relatively straightforward (e.g., antibiotics for strep throat) and may not require long or difficult discussions, but others (e.g., starting a psychotropic medication for behavior) may be tougher. In addition to having your child present for these decisions—if he or she is able—it is also a good idea to have another family member(s) there. For example, grandparents, siblings, or child care providers involved in day-to-day care may have input and even act as a scribe in the meeting. Sometimes, it can be difficult to hear and process information correctly after the fact. The other family member there can help recall the conversation later and clarify for questions.
  • Ask about breaking up appointments. Sometimes, it can be helpful to separate long, complex discussions into shorter, topic-based meetings. This also gives everyone—including the doctors and other professionals—more time to prepare. Having a set time limit for the discussion can be helpful, as well.
  • Be aware that this is a “process.” There are situations where a “yes” or “no” decision is needed immediately. Considering data, reflecting on choices, and coming to a consensus can be accomplished either quickly (if needed) or within a longer timeframe if shared decision-making techniques are used regularly.
  • Know teens need time alone with the doctor. Adolescents may benefit from time alone with their doctor(s) or other health professionals without parents present. The shared decision-making process allows for more input from your child. Ask your child about what he or she would like to talk about and arrange a separate meeting if he or she would like one. 
  • Realize participation prepares your child for adulthood. Your child’s prioritizing of his or her condition-related problems should be taken seriously. Teach your child to consider his or her strengths, obstacles, and abilities to function in different situations and to monitor any changes. It’s never too early to start talking about these topics. Ask your child’s doctors for more ideas on how to include your child in this process, as well as any additional resources.

About Crisis & Emergency Situations:

Shared decision-making should be implemented for routine decisions and well in advance of predictable (or unpredictable) crises, such as those requiring intensive care or do-not-resuscitate decisions. Complex or serious decisions are often easier to make if a foundation of trust was already built through prior experiences in the shared decision-making process.

Crisis and emergency medical situations can also change the process to accomplish shared decision-making. Components of shared decision-making can and should be used if possible, but the AAP report acknowledges that it may not always possible or allowed in an acute or serious emergency.

Development disabilities

Individualized Education Program (IEP)

To determine exactly which services your child needs, you will work with a team of specialists to complete a written document known as the Individualized Education Program (IEP). Every child who receives special education services must have an IEP. The IEP is the educational road map for children with disabilities. It spells out your child’s goals and outlines the exact education, services, and supplementary aids that the school district will provide for your child.

IEP Evaluation

Parents who feel their child might benefit from special education services should request an IEP evaluation in writing. Your pediatrician can also help draft a letter of request. Parents should work with personnel from their child’s EI program to help with this transition. You can begin this process when your child turns 2.

An IEP is written after an evaluation. During the evaluation, current performance levels are established and documented. To be eligible for special education services, your child must be identified with a recognized disability (there are 14 different disability categories under IDEA) and the disability must adversely affect her educational performance.

IEP Components

Every IEP should have several key pieces of information. It should include:

  • Your child’s current levels of performance
  • Measureable goals for the school year
  • When reports about your child’s progress will be provided
  • How well your child is able to function in school
  • How your child will be included with peers with typical development
  • How your child will be assessed on statewide and district-wide tests

In addition, should your child qualify for extended school year services, the IEP should lay out the kinds of interventions that your child should receive when school is not in session. The IEP establishes dates and locations of when services will begin, where they will be held, and how long they will last. The IEP should also discuss what will be done when your child’s needs change. In addition, the IEP may outline whether your child gets “related services” such as special transportation, speech therapy, occupational therapy, and counseling.

IEP Team

The IEP is written collaboratively by a group—often called an IEP team—made up of:

  • Child’s parents
  • Regular education teacher
  • Special education teacher
  • Psychologists
  • Therapists
  • School administrator
  • Possibly other school personnel

A meeting to discuss the IEP must be held within 30 days after a school determines that a child needs special education services. Parents may invite anyone to this meeting, including personnel such as an advocate or the child’s case manager from the EI program. The IEP is evaluated at least every year to determine whether goals are being met and may be adjusted if your child’s needs change.

IEPs for Children with ASDs

Unfortunately, research has found that many IEPs for children with autism spectrum disorders (ASDs) are lacking and do not meet recommendations of the National Research Council or requirements of IDEA. Many IEPs omit important information and may not provide services to a child outside of the traditional school year. Many do not adequately describe how goals are to be measured or how certain goals will help the child in school. Many IEPs also fail to say how teachers intend to motivate the child or how they would engage the child in developmentally appropriate tasks or play. Many IEPs do not include parent concerns.

Understanding Your Rights

When formulating your child’s IEP with your school district, it’s important to know exactly what your rights are and what to do if you are not happy with the resulting IEP. Before going to your first IEP meeting, do your research. Become familiar with your state’s education laws, and know the types of interventions available to your child based on her needs.

A good book to start with is Educating Children with Autism, published by the Committee on Educational Interventions for Children with Autism of the National Research Council.