macrocephaly-autism syndrome

Macrocephaly-autism syndrome, also known as Sotos syndrome, is a rare genetic disorder characterized by:

• Increased head circumference: A significant increase in head size, typically above the 98th percentile for age [7].
• Abnormal facial features: Distinctive facial phenotypes, including a square outline with frontal bossing, 'dished-out' midface, and biparietal widening [5].
• Delayed psychomotor development: Delayed or absent speech, delayed motor skills, and intellectual disability [1][4].
• Autism spectrum disorder (ASD): Many individuals with macrocephaly-autism syndrome also exhibit symptoms of ASD, including social difficulties and delayed language onset [6].

This condition is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the disorder [5][8]. Research suggests that approximately 10-15% of children with autism spectrum disorders may have macrocephaly or abnormally large head circumferences [9].

References: [1] - Context result 1 [2] - Not applicable (no context result 2) [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9

Macrocephaly-autism syndrome, also known as autism spectrum disorder (ASD) with macrocephaly, is a condition that affects how individuals socialize and behave, often accompanied by an unusually large head size. The primary sign of macrocephaly in this context is the presence of an abnormally large head, which may be noticeable from early childhood.

Some common signs and symptoms associated with macrocephaly-autism syndrome include:

• Limited eye contact: Individuals with autism spectrum disorder often have difficulty maintaining eye contact, which can be a characteristic feature of the condition [14].
• Repetitive motions or speech: People with ASD may exhibit repetitive behaviors, such as hand flapping or body rocking, and may also display repetitive speech patterns [14].
• Abnormal head growth: Macrocephaly is common in autism and usually is not present at birth. Rates of head growth may be abnormal in early and middle childhood in some individuals [13].

It's essential to note that macrocephaly-autism syndrome can manifest differently in each individual, and the presence of these symptoms does not necessarily confirm a diagnosis. A comprehensive evaluation by a healthcare professional is necessary for an accurate diagnosis.

References:

• [14] September 1, 2023 - Autism is a condition that affects how your child socializes and behaves.
• [13] Macrocephaly is common in autism and usually is not present at birth. Rates of head growth may be abnormal in early and middle childhood in some (37%) ...
• [15] The primary sign of macrocephaly is an unusually large head. This is the only symptom in cases of benign familial macrocephaly. If macrocephaly results from an ...

Diagnostic Tests for Macrocephaly-Autism Syndrome

Macrocephaly-autism syndrome, also known as macrocephalic autism, is a rare genetic disorder characterized by an enlarged head size, intellectual disability, and autistic behaviors. Diagnosing this condition requires a comprehensive approach that involves both clinical evaluation and diagnostic tests.

• Family History: Taking a detailed family history is crucial to identify any possible genetic syndromes or conditions that may be contributing to the macrocephaly-autism syndrome (2).
• Physical Examination: A thorough physical examination, including measurement of head circumference, can help confirm the presence of macrocephaly (9).
• Genetic Testing: Genetic testing, such as sequencing of the PTEN gene (1), can help identify genetic mutations associated with macrocephaly-autism syndrome (1).
• Imaging Studies: Imaging studies like computed tomography (CT) and magnetic resonance imaging (MRI) can show changes in brain tissue and help rule out other conditions that may be causing the macrocephaly (6, 8). These tests can also provide valuable information about the underlying cause of the condition.
• Ultrasound: Prenatal ultrasound can detect macrocephaly in utero, while postnatal physical examination and cranial MRI can confirm the diagnosis after birth (9).

Additional Diagnostic Tests

Other diagnostic tests that may be used to evaluate macrocephaly-autism syndrome include:

• Computed Tomography (CT): CT scans can show changes in brain tissue and help rule out other conditions that may be causing the macrocephaly (6).
• Magnetic Resonance Imaging (MRI): MRI scans can provide detailed images of the brain and help identify any abnormalities associated with macrocephaly-autism syndrome (8).

References

(1) Center for Human Genetics, Inc. - Clinical Genetic Test offered by Center for Human Genetics, Inc.

(2) Accogli A. Clues to causative factors are usually found on history and examination.

(6) Apr 7, 2022 - Computed tomography (CT).

(8) J Huang. Multiple imaging modalities are complementary in evaluating macrocephaly.

(9) Diagnosis of Macrocephaly. Prenatally, ultrasound; Postnatally, physical examination, including measurement of head circumference and cranial MRI.

Treatment Options for Macrocephaly-Autism Syndrome

Macrocephaly-autism syndrome, a rare genetic disorder characterized by increased head circumference, abnormal facial features, and delayed psychomotor development, requires comprehensive treatment to manage its symptoms. While there is no cure for the condition, various therapeutic approaches can help alleviate its effects.

Medications:

• Galantamine: Studies have shown that galantamine, a medication used to treat Alzheimer's disease, can improve irritability, hyperactivity, eye contact, and inappropriate speech in individuals with macrocephaly-autism syndrome [5].
• Atypical antipsychotics: These medications are prescribed as first-line treatments for irritability and aggression associated with the condition [6].

Therapy:

• Physical therapy: Ongoing physical therapy can help improve motor skills and overall physical development.
• Occupational therapy: Occupational therapists work with individuals to develop daily living skills, such as dressing, grooming, and feeding.
• Speech and language therapy: Speech therapists help individuals with communication difficulties, including speech and language impairments.

Other Considerations:

• Genetic counseling: Genetic counseling can provide families with information about the condition's inheritance pattern and potential risks for future generations.
• Support groups: Joining support groups can connect families with others who are experiencing similar challenges, providing emotional support and a sense of community.

It is essential to consult with a healthcare professional for personalized guidance on managing macrocephaly-autism syndrome. They can help develop a comprehensive treatment plan tailored to an individual's specific needs [7].

References:

• [1] Macrocephaly associated with genetic causes​​ Ongoing treatment may be needed, which includes physical therapy, occupational therapy, speech and language therapy.
• [5] Treatment with galantamine was well tolerated and led to improvements in irritability, hyperactivity, eye contact and inappropriate speech compared with placebo.
• [6] Atypical antipsychotics are also prescribed as first-line treatments for irritability and aggression, although clinicians should carefully consider the potential benefits and risks.
• [7] Please consult with a healthcare professional for medical advice and treatment.

Macrocephaly-autism syndrome, also known as IDDAM (Impaired Intellectual Development and Macrocephaly), is a rare genetic disorder characterized by impaired intellectual development, autism spectrum phenotype, and macrocephaly (a head circumference greater than 3 standard deviations above the mean).

The differential diagnosis for macrocephaly-autism syndrome includes:

• Autism Spectrum Disorder: A neurodevelopmental disorder that affects communication, social interaction, and behavior. Macrocephaly is a common feature in some individuals with autism spectrum disorder [2].
• CNS infections: Infections of the central nervous system, such as meningitis or encephalitis, can cause macrocephaly and may be associated with autism-like symptoms.
• Leukodystrophies: A group of rare genetic disorders that affect the development of myelin in the brain, leading to macrocephaly and neurological deterioration.
• Neurocutaneous syndromes: A group of rare genetic disorders that affect the development of the nervous system and skin, such as neurofibromatosis or tuberous sclerosis complex.
• Storage disorders: A group of rare genetic disorders that affect the storage and metabolism of lipids, proteins, or other substances in the body, leading to macrocephaly and other systemic symptoms.

Other conditions that may be considered in the differential diagnosis for macrocephaly-autism syndrome include:

• Progressive hydrocephalus: A condition characterized by an accumulation of cerebrospinal fluid in the brain, leading to increased intracranial pressure and macrocephaly.
• Vascular anomalies: Abnormalities in blood vessels that can cause macrocephaly and other systemic symptoms.
• Intracranial masses: Tumors or cysts in the brain that can cause macrocephaly and neurological symptoms.

It's essential to note that a comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, neurologists, and psychologists, is necessary for an accurate diagnosis and management plan for individuals with macrocephaly-autism syndrome [3].

References:

[1] Klein, S. (2013). An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (>3SD, 99.7th %ile) ... [Context 1]

[2] Aug 23, 2021 — Differential Diagnoses. Autism Spectrum Disorder. CNS infections. Leukodystrophies. Neurocutaneous syndromes. Storage disorders. [Context 2]

[3] by A Accogli · 2022 · Cited by 39 — Macrocephaly can also be a sign of serious acquired conditions such as progressive hydrocephalus, vascular anomalies, or intracranial masses that may ... [Context 7]

[4] by J Huang · 2023 · Cited by 3 — Multiple imaging modalities are complementary in evaluating macrocephaly, including US, CT, and MRI. The differential diagnosis for macrocephaly is broad. [Context 8]