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autosomal dominant intellectual developmental disorder 38

Description

Autosomal dominant intellectual developmental disorder 38 (ADID 38) is a rare genetic condition characterized by significantly below average general intellectual functioning, impairments in adaptive behavior, and severe intellectual disability.

Key Features:

  • Intellectual Disability: Individuals with ADID 38 have significant difficulties with cognitive functions, such as learning, memory, and problem-solving [1].
  • Adaptive Behavior Impairment: They may also experience impairments in adaptive behaviors, including daily living skills, social interactions, and communication [2].
  • Severe Intellectual Disability: The condition is associated with severe intellectual disability, which can manifest as significant delays in speech, language, and motor development [3].

Clinical Features:

  • Depressed nasal bridge
  • Downslanted palpebral fissures
  • Downturned corners of mouth
  • Epicanthus
  • Everted lower lip vermilion
  • Full cheeks

These physical features may be present in individuals with ADID 38, although they are not universal [4].

Genetic Cause:

ADID 38 is caused by a heterozygous mutation in the EEF1A2 gene on chromosome 20q13.33 [5]. This genetic mutation affects the production of a protein essential for proper brain development and function.

Prevalence:

The prevalence of ADID 38 is estimated to be very low, likely less than 0.05% [6].

It's essential to note that each individual with ADID 38 may experience a unique set of symptoms and challenges. A comprehensive diagnosis by a qualified healthcare professional is necessary for an accurate understanding of the condition.

References:

[1] Context #1 [2] Context #4 [3] Context #8 [4] Context #3 [5] Context #15 [6] Context #11

Additional Characteristics

  • Depressed nasal bridge
  • Epicanthus
  • Downslanted palpebral fissures
  • Full cheeks
  • Intellectual Disability: Individuals with ADID 38 have significant difficulties with cognitive functions, such as learning, memory, and problem-solving.
  • Adaptive Behavior Impairment: They may also experience impairments in adaptive behaviors, including daily living skills, social interactions, and communication.
  • Severe Intellectual Disability: The condition is associated with severe intellectual disability, which can manifest as significant delays in speech, language, and motor development.
  • Downturned corners of mouth
  • Everted lower lip vermilion
  • ADID 38 is caused by a heterozygous mutation in the EEF1A2 gene on chromosome 20q13.33.
  • The prevalence of ADID 38 is estimated to be very low, likely less than 0.05%
  • Autosomal dominant intellectual developmental disorder 38 (ADID 38) is a rare genetic condition characterized by significantly below average general intellectual functioning, impairments in adaptive behavior, and severe intellectual disability.

Signs and Symptoms

Based on the available information, here are the signs and symptoms associated with Autosomal Dominant Intellectual Developmental Disorder 38 (ADID38):

  • Global Developmental Delay: ADID38 is characterized by a significant delay in the development of motor skills, speech, and language [1].
  • Impaired Intellectual Development: Individuals with ADID38 experience impaired intellectual development, which can manifest as mild to moderate intellectual disability or learning problems [3][9].
  • Behavioral Abnormalities: Some individuals may exhibit behavioral abnormalities, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) [6].

It's worth noting that the symptoms of ADID38 can vary in severity and presentation. However, these signs and symptoms are commonly associated with this condition.

References: [1] - Context result 3 [3] - Context result 4 [6] - Context result 6 [9] - Context result 9

Additional Symptoms

  • Impaired Intellectual Development
  • Global Developmental Delay
  • Behavioral Abnormalities

Diagnostic Tests

Autosomal dominant intellectual developmental disorder 38, also known as intellectual disability exome sequencing, involves a comprehensive genetic testing approach to diagnose the condition.

  • Clinical tests: Various clinical tests are available for diagnosing autosomal dominant intellectual developmental disorder 38. These include:
    • Deletion/duplication analysis (12) [1]
    • Chromosomal microarray analysis [2]
    • Testing for fragile X syndrome [2]
    • Karyotype analysis [2]
    • Metabolic testing [3]
  • Genetic tests: Genetic tests are also available to diagnose autosomal dominant intellectual developmental disorder 38. These include:
    • Diagnostic exome sequencing in persons with severe intellectual disability [4]
    • Intellectual disability exome, which involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic intellectual disability [5]

It's worth noting that prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member. The disorder is autosomal dominant, meaning that only one copy of the mutated gene is needed to cause the condition.

References: [1] - Deletion/duplication analysis (12) [2] - Rationale for genetic testing, Chromosomal microarray analysis, Testing for fragile X syndrome, Karyotype analysis [3] - Metabolic testing [4] - Diagnostic exome sequencing in persons with severe intellectual disability [5] - Intellectual disability exome

Additional Diagnostic Tests

  • Metabolic testing
  • duplication analysis
  • Karyotype analysis
  • Chromosomal microarray analysis
  • Testing for fragile X syndrome
  • Diagnostic exome sequencing in persons with severe intellectual disability
  • Intellectual disability exome

Treatment

Based on the search results, it appears that there is limited information available on the specific drug treatment for Autosomal Dominant Intellectual Developmental Disorder (ADIDD) 38.

However, I can provide some general information on the topic. According to a summary [3], ADIDDs are a group of genetic disorders characterized by intellectual disability and developmental delay. While there may not be specific information available on the treatment of ADIDD 38, research suggests that various medications may be used to manage symptoms associated with these conditions.

Some studies have investigated the use of risperidone [5] as a treatment for disruptive behaviors in children with intellectual disabilities, including those with ADIDDs. However, it is essential to note that this information is not specific to ADIDD 38 and should be interpreted with caution.

Additionally, Orphanet [6] provides a summary on various conditions, including some forms of intellectual disability, which may include information on diagnosis, care, and treatment options. However, I couldn't find any specific information on the drug treatment for ADIDD 38 within this resource.

It's also worth noting that MBD5-associated neurodevelopmental disorder (MAND) [8] is a condition that affects neurological and physical development, but it's not directly related to ADIDD 38.

In summary, while there may be some general information available on the treatment of intellectual disabilities, I couldn't find any specific information on the drug treatment for Autosomal Dominant Intellectual Developmental Disorder 38. If you're looking for more detailed information, I recommend consulting a medical professional or searching for peer-reviewed articles on this topic.

References: [3] - ADNP syndrome, also called Helsmoortel-Van Der Aa syndrome, is a genetic disorder that affects brain development and can lead to a wide range of challenges. [5] - Risperidone is a well-documented treatment of disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorder with good ... [6] - Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the ... [8] - Sep 1, 2018 — MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.

Recommended Medications

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Differential Diagnosis

The differential diagnosis for autosomal dominant intellectual developmental disorder (ADIDD) involves considering various other conditions that can present with similar symptoms.

  • Other autosomal dominant disorders, such as achondroplasia, some forms of amelogenesis imperfecta, and Marfan syndrome, should be ruled out [3].
  • The differential diagnosis also includes all other syndromes associated with neurodevelopmental disorder, seizure, obesity, and behavioral disturbances [6].
  • Disorders like Cohen syndrome, which is a rare genetic disorder marked by multi-systemic involvement, causing developmental delays, intellectual disabilities, microcephaly, and other symptoms, should be considered in the differential diagnosis [9].

It's essential to note that the differential diagnosis for ADIDD can be extensive, and a comprehensive evaluation by a healthcare professional is necessary to accurately diagnose and rule out other conditions.

Additional Differential Diagnoses

  • Autosomal dominant disorders (achondroplasia, amelogenesis imperfecta, Marfan syndrome)
  • Other syndromes associated with neurodevelopmental disorder, seizure, obesity, and behavioral disturbances
  • Cohen syndrome

Additional Information

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