Angelman syndrome is a genetic disorder that involves the nervous system.

This rare condition affects50万人根据安吉尔曼综合症基金会的说法，世界各地。该疾病会导致严重的发育延迟。这些包括身体和学习问题，例如较低的流动性或言语困难。Angelman综合征的人无法独立生活。但是，有了适当的支持和关怀，整体前景是有利的。

Read on to learn about Angelman syndrome, including its symptoms, causes, and treatment options.

尽管Angelman综合征是遗传因素，但症状并未出现。取而代之的是，在6到12个月大时，发育延迟变得明显。

安吉尔曼综合症有许多可能的症状。确切的症状因人而异。它们可能包括：

Angelman syndrome facial features

在大多数情况下，Angelman综合征不会引起独特的面部特征。但是，如果确实如此，它可能涉及微铁管畸形，这是一个沿背部平坦的小头。这常常在2岁左右变得明显。

Other facial features may include:

  • crossed eyes
  • 皮肤，头发和眼睛比其他家庭成员更苍白
  • wide mouth, also known as macrostomia
  • 凸出的舌头
  • widely spaced teeth
  • 突出的下巴
  • deep-set eyes

Angelman syndrome physical delays

Some symptoms of Angelman syndrome involve mobility and physical development. This may include:

  • 延迟行走的能力
  • gaitataxia, or difficulty walking in a straight line
  • trembling limbs
  • 脚僵硬
  • 生涩的动作

Angelman syndrome learning delays

Angelman syndrome is often characterized by the inability or near inability to speak.

一个不到1岁的孩子可能无法发出胡言乱语。随着年龄的增长，孩子可能会学会通过手势进行交流。

Angelman syndrome behavioral symptoms

Angelman syndrome is associated with the following behaviors:

  • 变得容易兴奋
  • unprovoked episodes of laughter and smiling
  • 躁动或多动症
  • short attention span
  • 难以入睡
  • fascination with water and shiny objects
  • 双臂在空中行走
  • frequently sticking the tongue out
  • 手拍打动作

Other Angelman syndrome symptoms

Angelman syndrome might involve:

Angelman syndrome is caused by a change involving the gene E3 ubiquitin protein ligase (UBE3A).

通常，当孩子没有从分娩父母那里收到基因副本时，它通常会发展。在其他情况下，它们可能会得到该基因，但它无法正常工作。

在2％至5％of cases, Angelman syndrome develops when a child receives two copies of UBE3A from their other parent, according to the National Organization for Rare Disorders. In about10 percentof cases, the exact cause is unknown.

Typically, the genetic defect occurs during conception. The parents usually do not have the disorder.

Angelman综合征会在一生中引起某些并发症。这可能包括：

Due to these complications, adults with Angelman syndrome do not live independently.

There is no cure for Angelman syndrome. However, the symptoms can be managed using various therapies.

The best treatment depends on the symptoms. This will likely include a combination of:

  • Antiseizure drugs.Antiseizure medications，或抗惊厥药用于控制或管理癫痫发作。可能需要多种药物。
  • Sedatives.Sedatives可能有助于管理睡眠障碍。
  • Motility drugs.These drugs help food move through the digestive system. This can help with GERD.
  • Physical therapy.Physical therapy and ankle braces can help improve mobility.
  • Occupational therapy.在occupational therapy，专家教授执行日常活动和任务的技能。
  • Behavioral therapy.This type of therapy can manage hyperactivity, sleep disorders, and other behavioral symptoms.
  • 语音疗法。言语疗法可以帮助患有安吉尔曼综合症的人学习沟通技巧。
  • Scoliosis treatment.脊柱侧弯或弯曲的脊柱可以用牙套或手术校正。
  • Eye surgery.Surgery can correct crossed eyes.

If you notice your child has not reached developmental milestones by ages 6 to 12 months, bring them to a doctor.

Pay attention to these signs:

  • little to no babbling
  • difficulty eating
  • difficulty walking
  • seizures, usually around 2 years old
  • 小头，在2岁左右更明显
  • paler skin and eyes compared with other family members

医生可以使用以下方法诊断Angelman综合征：

  • 病史。Children with Angelman syndrome are born without any developmental issues. Your child’s medical history can help their doctor determine the possibility of other conditions.
  • 体检。医生将检查具有独特的身体特征，例如头大小，眼睛交叉或深度凝视。
  • 血液检查。This includes genetic tests that look for missing or altered genes.

Often, Angelman syndrome is diagnosed between 9 months and 6 years old.

Some symptoms of Angelman syndrome will become less severe over time. This might include:

  • seizures
  • 多动症
  • sleep disorders

Angelman综合征的人具有典型的预期寿命。但是，与该病有关的并发症会增加某些伤害的风险。这可能与：

  • seizures
  • aspiration pneumonia
  • 由于行走困难或对水的迷恋而导致的事故

安吉尔曼综合征的长期前景取决于症状管理。

在adults, treatment will need to focus on managing factors like:

  • stiff joints
  • return of seizures
  • digestive issues, including GERD and constipation
  • communication difficulties
  • overweight or obesity
  • accidents and injuries

With proper support and care, individuals with the condition can lead long and healthy lives.

Angelman综合征是一种罕见的遗传神经系统疾病。它可能导致各种发育延迟，包括较低的流动性，语音困难和多动症。这些问题通常出现在6到12个月之间。

安吉尔曼综合症无法治愈。但是，可以通过药物，手术和各种形式的治疗来治疗并发症。

A person with the condition has a typical life expectancy. Receiving proper care and support will also improve their overall outlook.