Brain Development & Genetics Clinic

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.

我们的大脑发育和遗传(BrDG)诊所t 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.

我们看到有条件的孩子包括：

• 多糖蛋白酶（PMG）包括：
  • Perisylvian PMG，也称为Perisylvian综合征
  • 双边额叶PMG
  • 双侧额叶多核酸（BFPP）
  • 弥漫性PMG
• 异位症包括：
  • 周围杂质杂质（pH），也称为脑室杂词杂动物（PNH或PVNH）
  • subcortical heterotopias
  • subcortical band heterotopia (SBH), also called double cortex syndrome
• Lisschallaly（LIS）包括：
  • 小脑发育不全（LCH）的脑脑
  • 不完整的Lissencephaly，也称为变体Lissencephaly
• microcephaly
• Pachygyria
• 双皮层综合征
• 局灶性皮质发育不良（FCD），也称为局灶性脑畸形
• 半脑脑
• 乔伯特综合征
• callosum call体（IHC/ACC）的囊肿间囊肿
• 精神病
• 沃克·瓦尔堡综合症
• 家族自闭症
• familial non-syndromic mental retardation

Clinical evaluation

我们团队的医生在评估患有这些疾病的儿童方面具有高水平的专业知识。该程序特别不寻常，因为它是神经科医生和遗传学家之间的合作，因此我们能够结合两个领域的信息。我们的同事有时将孩子转介给我们，以帮助诊断不容易适应标准诊断的条件。在孩子被诊断出患有脑发育障碍的孩子之后，家庭也可能会出现第二意见。

我们将要求您发送孩子的病历和MRI图像，以便我们可以在预约之前对其进行研究。预约时，我们将检查您的孩子，并充分讨论她的状况以及您的任何问题。我们将提供有关其他测试和疗法的建议。

脑发育障碍的遗传学

您可能想知道您孩子的病情是否是由DNA中的问题引起的 - 如果是这样，该问题是否是自发的变化（仅在她的DNA中发生），还是遗传异常是继承的。我们团队中的遗传顾问将详细讨论这些问题。

已知一些引起脑发育障碍的遗传异常。因此，在某些情况下，基因检测可以确认您的孩子的诊断。

父母经常想接受自己的测试，以找出他们是否是遗传异常的“携带者”。如果您的孩子发现了特定的遗传变化，我们可以帮助您进行测试的过程。如果您的孩子找不到这样的改变，我们将讨论我们可以和其他亲戚可以决定的和无法确定的。无论情况如何产妇护理中心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

经过初步咨询后，我们可以根据需要每一到两年来一次看到您的孩子，以讨论任何新信息，可用的测试和可能的治疗计划。但是，您的孩子将需要继续看到其他医学专家进行常规护理。

At Boston Children’s, ongoing care for children with brain and cardiovascular development disorders is provided through several specialized programs in神经病学，，，，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.