Current Environment:

If your child has been diagnosed with a disorder of brain development or brain structure, your family probably has many questions. These conditions are rare, so it can be hard to find helpful information.

Our Brain Development and Genetics (BrDG) Clinic at Boston Children’s Hospital is a specialty consultation service that may be able to help. Our program bridges the fields of neurology, cardiology, genetic counseling, and research to build a comprehensive approach to helping your child and answering questions you may have. We specialize in assessment, and the goal of our program is to offer the most up-to-date diagnosis possible for your child’s brain development disorder.

Members of our team also conduct research to find new genetic abnormalities that may be responsible for disorders of brain development. So if available genetic testing has not provided an explanation for your child’s condition, we can talk with you about whether participating in our genetic research is an appropriate option for your family.

Our expertise

At our Brain Development and Genetics (BrDG) Clinic at Boston Children’s Hospital, we evaluate children with a wide range of brain development disorders. In many of these conditions, the brain does not develop normally before birth. These conditions may also be called brain malformations, malformations of cortical development, or neuromigrational disorders.

We see children with conditions including:

  • polymicrogyria (PMG) including:
    • perisylvian PMG, also called perisylvian syndrome
    • bilateral frontal PMG
    • bilateral frontoparietal polymicrogyria (BFPP)
    • diffuse PMG
  • heterotopias including:
    • periventricular heterotopia (PH), also called periventricularnodular heterotopia (PNH or PVNH)
    • subcortical heterotopias
    • subcortical band heterotopia (SBH), also called double cortex syndrome
  • lissencephaly (LIS) including:
    • lissencephaly with cerebellar hypoplasia (LCH)
    • incomplete lissencephaly, also called variant lissencephaly
  • microcephaly
  • pachygyria
  • focal cortical dysplasia (FCD), also called focal brain malformations
  • hemimegalencephaly
  • Joubert syndrome
  • interhemispheric cysts with agenesis of the corpus callosum (IHC/ACC)
  • schizencephaly
  • Walker-Warburg syndrome
  • familial autism
  • familial non-syndromic mental retardation

Clinical evaluation

The physicians on our team have a high level of expertise in evaluating children with these conditions. The program is especially unusual because it is a collaboration between neurologists and geneticists, so we are able to combine information from both fields. Our colleagues sometimes refer children to us for assistance in diagnosing conditions that do not easily fit into a standard diagnosis. Families also may come to us for a second opinion after their child has been diagnosed with a brain development disorder.

We will ask you to send your child’s medical records and MRI images so that we can study them before you come in for an appointment. At your appointment, we will examine your child and fully discuss her condition and any questions you have. We will offer our suggestions for additional testing and therapies.

Genetics of brain development disorders

You may be wondering whether your child’s condition was caused by a problem in her DNA — and if so, whether that problem was a spontaneous change (one that occurred in only her DNA) or whether the genetic abnormality was inherited. The genetic counselor on our team will discuss these questions with you in detail.

Some of the genetic abnormalities that cause brain development disorders are known. So in some cases, genetic testing can confirm your child’s diagnosis.

Parents often want to be tested themselves to find out whether they are “carriers” of the genetic abnormality. If a specific genetic change is found in your child, we can help you with the process of getting tested yourself. If such a change is not found in your child, we will discuss what we can and cannot determine for you and other relatives. Regardless of the situation, if you are expecting another child and are concerned that that child may be affected, we may refer you to Boston Children’s Maternal Fetal Care Center for evaluation.

Unfortunately, in many cases, we may not know the cause of your child’s condition, even after genetic testing. Members of our team are trying to solve cases like these by conducting research to look for additional DNA abnormalities that may be responsible for different brain development disorders. If genetic testing has not provided an explanation for your child’s condition, we can talk with you about whether participating in our research is an appropriate option for your family.

Your child’s ongoing care

After our initial consultation, we can continue to see your child every one to two years as needed to discuss any new information, available testing, and possible treatment plans. However, your child will need to continue to see other medical specialists for routine care.

At Boston Children’s, ongoing care for children with brain and cardiovascular development disorders is provided through several specialized programs in Neurology, Cardiology, and other departments. We can refer your child to our colleagues in these programs. Or, if your child receives care at another institution, we are happy to discuss our findings with her physicians there, if you wish.