primary microcephaly

Primary microcephaly (MCPH) is a rare autosomal recessive neurodevelopmental disorder characterized by two principal features, microcephaly present at birth and nonprogressive mental retardation [8]. It is a neurodevelopmental disorder that affects brain growth and development, leading to reduced head circumference [5].

The primary symptom of microcephaly is having a head size that is much smaller than that of other children of the same age and sex [4]. Head size is a measure of the distance around the head, typically measured using a tape measure or a specialized device. In individuals with MCPH, this measurement is more than 3 standard deviations (SD) below the age- and sex-related mean [7].

Some people with MCPH may also experience additional symptoms, such as:

• A narrow, sloping forehead [1][3]
• Mild seizures [1][3]
• Problems with attention or behavior [1][3]
• Short stature compared to others in their family [1][3]

These symptoms can vary in severity and may not be present in all individuals with MCPH. The disorder is typically diagnosed through a combination of clinical evaluation, medical history, and genetic testing.

It's worth noting that the description of primary microcephaly can vary depending on the individual and the specific characteristics of their condition. However, in general, it is characterized by reduced head circumference and nonprogressive mental retardation.

Primary Microcephaly: Signs and Symptoms

Primary microcephaly is a rare genetic disorder characterized by a significantly smaller head size than normal for an infant's age. The condition can be diagnosed at birth or later in childhood. Here are the common signs and symptoms associated with primary microcephaly:

• Developmental delays: Children with primary microcephaly may experience delayed speech, learning difficulties, and problems with movement and balance [1][2].
• Intellectual disability: Some individuals with primary microcephaly may have intellectual disabilities, although this is not always the case [3].
• Seizures: Seizures are a common symptom of primary microcephaly, affecting around 10% of cases [4].
• Feeding problems: Infants and young children with primary microcephaly may experience feeding difficulties, including poor weight gain and growth [5][6].
• Short stature: Children with primary microcephaly often have short stature compared to their peers [7].

It's essential to note that the severity of these symptoms can vary widely among individuals with primary microcephaly. Some people may experience mild symptoms, while others may have more severe impairments.

References:

[1] - Context result 2: Developmental delay, such as problems with speech and walking. [2] - Context result 3: Delayed speech · Decreased ability to learn · Difficulty with movement and balance [3] - Context result 6: Intellectual disability1; Problems with movement and balance2; [4] - Context result 9: Seizures may be present (10%). [5] - Context result 7: Feeding · Growing or gaining weight [6] - Context result 8: poor weight gain and growth [7] - Context result 1: Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family.

Diagnostic Tests for Primary Microcephaly

Primary microcephaly can be diagnosed through various diagnostic tests, which help determine the underlying cause of the condition.

• Head Circumference Measurement: Measuring the head circumference is a crucial step in diagnosing primary microcephaly. This measurement is taken at birth and compared to the average head circumference for the child's gestational age [4].
• Imaging Tests: Imaging tests such as head ultrasound or brain MRI can help identify any structural abnormalities in the brain, which may be associated with primary microcephaly [6]. These tests can also rule out other conditions that may cause similar symptoms.
• Blood Tests: Blood tests can detect changes to the genetic code or underlying conditions that may contribute to primary microcephaly [6].
• Genetic Testing: Molecular genetic testing is available for several genes associated with primary microcephaly. This testing can help identify the specific genetic cause of the condition [5].

Additional Diagnostic Tools

• Multigene Panel: A multigene panel, which includes WDR62 and other genes of interest, may be used to identify the genetic cause of primary microcephaly [7].
• OFC Measurements: Measuring the occipital frontal circumference (OFC) at birth is necessary to establish a diagnosis of primary microcephaly [8].

These diagnostic tests can help healthcare providers determine the underlying cause of primary microcephaly and develop an appropriate treatment plan for affected individuals.

References: [4] Apr 1, 2011 — Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and ... [5] by S Ashwal · 2009 · Cited by 384 — Targeted and specific genetic testing may be considered in the evaluation of the child with microcephaly who has clinical or imaging ... [6] Tests could include: Imaging tests like a head ultrasound or brain MRI. Blood tests to detect changes to their genetic code or any underlying conditions. [7] Feb 17, 2022 — A multigene panel that includes WDR62 and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of ... [8] Jan 9, 2023 — OFC measurements at birth are necessary to establish a diagnosis of primary microcephaly. (See 'Primary genetic microcephaly and its syndromes' ...

Treatment Options for Primary Microcephaly

Primary microcephaly, also known as MCPH, is a rare genetic disorder characterized by a small head size and brain volume at birth. While there is no cure for this condition, various treatment options are available to manage its symptoms and complications.

• Antiseizure Medication: Children with primary microcephaly may experience seizures, which can be challenging to control. In such cases, antiseizure medications like lamotrigine, levetiracetam, sodium valproate, vigabatrin, oxcarbazepine, and sulthiame are often prescribed as monotherapy or in combination (multitherapy) [2].
• Early Intervention: Early intervention with speech, occupational, and physical therapy can help children with primary microcephaly overcome developmental issues and improve their quality of life [6].

It's essential to note that these treatment options focus on managing symptoms rather than reversing the condition. Primary microcephaly is a lifelong condition with no cure.

References:

• [1] Except for surgery for craniosynostosis, there's generally no treatment that will enlarge your child's head or reverse complications of microcephaly.
• [2] Lamotrigine, levetiracetam, sodium valproate, vigabatrin, oxcarbazepine, & sulthiame have been mostly effective as monotherapy. · Multitherapy may be required;
• [6] Children with microcephaly often have developmental issues. Although there's no treatment for microcephaly, early intervention with speech, occupational and ...
• [7] In these cases, antiseizure medicine may be needed. Seizures in patients with microcephaly can be difficult to control. However, there are multiple medicines ...

Differential Diagnosis of Primary Microcephaly

Primary microcephaly, also known as WDR62-M