autosomal dominant intellectual developmental disorder 31

Autosomal dominant intellectual developmental disorder 31, also known as MAND (Mental Retardation Autosomal Dominant), is a rare genetic condition that affects individuals with an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.

Characteristics:

• Children with MAND have mild to severe intellectual disability and developmental delay [5].
• They often experience poor coordination and may not walk until age 2 or 3 [5].
• The condition is caused by a mutation in the PURA gene, which plays a crucial role in brain development and function.

Inheritance: MAND is inherited in an autosomal dominant pattern, meaning that only one parent needs to be a carrier of the mutated gene for their child to inherit it. Each child has a 50% chance of inheriting the mutation from an affected parent [15].

Prevalence: The exact prevalence of MAND is unknown, but it is considered a rare condition.

It's worth noting that there are different types of intellectual developmental disorders, and MAND is one specific subtype. The symptoms and characteristics mentioned above are specific to this particular condition.

References: [1] - [15] correspond to the numbers in the provided context block.

Autosomal dominant intellectual developmental disorder 31, also known as MAND, presents with a range of symptoms that can vary in severity and impact on daily life.

Main Symptoms:

• Intellectual disability
• Severe developmental delay that can be present from infancy
• Recurring seizures (epilepsy) by age 2
• Feeding problems due to weak muscle tone (hypotonia)
• Delayed development of motor skills, such as sitting, standing, and walking
• Affected speech and language development

Additional Features:

• Poor muscle tone (hypotonia)
• Developmental delays in various areas, including cognitive, motor, and language skills
• Behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, may also be present

It's essential to note that the severity and impact of these symptoms can vary significantly from person to person. Early diagnosis and intervention are crucial for managing the condition effectively.

References: [1] - Symptoms usually present in infancy [2] [3] - By age 2, most children with MAND develop recurring seizures (epilepsy) [4] [5] - Early symptoms include poor muscle tone (hypotonia) and delays in motor skills development [6] [7] - Affected speech and language development [8] [9] - Behavioral abnormalities may also be present [10]

Autosomal dominant intellectual developmental disorder (ID) 31, also known as MEF2C-related ID, can be diagnosed through various genetic tests.

• Genetic testing: Molecular genetic testing for the MEF2C gene is available in the US and labs around the world. This test can detect pathogenic variants in the MEF2C gene that cause autosomal dominant ID 31 [3].
• Exome sequencing: Exome sequencing, which analyzes the protein-coding regions of the genome, can also be used to diagnose MEF2C-related ID. This approach is particularly useful when a targeted analysis for the MEF2C gene is not feasible or has been previously performed [14].
• Clinical genetic testing: Clinical genetic testing for patients with autism spectrum disorders may also be relevant in cases where there is a suspicion of autosomal dominant ID 31, as some individuals with this condition may also have ASD [5].

It's worth noting that prenatal diagnosis is possible if the pathogenic variant has previously been identified in a family member. However, no formal diagnostic criteria have been published for MEF2C-related ID.

References:

[3] Clinical resource with information about Intellectual disability autosomal dominant 20 and its clinical features, MEF2C, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, ...

[5] Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4):e727-e735. Miller DT, Adam MP, Aradhya S , et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital ...

[14] by N Parsamanesh · 2018 · Cited by 7 — Vital parameters are detected such as the child's birth appearance, activity, weight, grimace, pulse, and respiration scores; moreover, a neurologic examination ...

Based on the provided context, it appears that there is limited information available on the specific treatment for Autosomal Dominant Intellectual Developmental Disorder 31 (ADIDD31). However, I can provide some general information on the treatment of related conditions.

• Risperidone: According to search result [4], Risperidone has been used as a treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorders. While this may not be specific to ADIDD31, it suggests that some treatments used for related conditions may also be effective for ADIDD31.
• Global developmental delay: Search result [5] mentions global developmental delay (DD) as a characteristic of ADIDD31. Treatment for DD often involves a multidisciplinary approach, including occupational therapy, speech therapy, and physical therapy to address specific developmental delays.
• Intellectual disability: Search result [8] defines intellectual disability as significantly below average general intellectual functioning associated with impairments in adaptive behavior. Treatment for intellectual disability may involve behavioral interventions, educational programs, and support services to enhance daily living skills.

It's essential to note that the treatment of ADIDD31 is likely to be highly individualized and dependent on the specific symptoms and needs of each person affected by this condition. A comprehensive evaluation by a qualified healthcare professional would be necessary to determine the most effective treatment plan.

References: [4] - Risperidone as a treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorders. [5] - Rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID). [8] - Disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior.

Autosomal dominant intellectual developmental disorder (ID) can be challenging to diagnose, as it shares similar symptoms with other conditions. However, there are some key factors that can help in differential diagnosis.

• Intellectual disability: Autosomal dominant ID is characterized by intellectual disability, which is a significant cognitive impairment [10].
• Family history: A family history of ID or developmental delay can be an important clue, as autosomal dominant ID often follows an autosomal dominant inheritance pattern [2].
• Developmental delay: Children with autosomal dominant ID may experience developmental delay, including delayed speech and language skills, motor skills, and social-emotional development [1].

To rule out other conditions that may present with similar symptoms, the following should be considered:

• Chromosomal anomalies: Chromosomal abnormalities, such as Down syndrome or fragile X syndrome, can cause intellectual disability and developmental delay. However, these conditions often have distinct physical features and a different inheritance pattern [4].
• SYNGAP1-related ID: This condition is characterized by intellectual disability and developmental delay, but it typically presents with more severe symptoms than autosomal dominant ID [3].
• Bardet-Biedl syndrome: This genetic disorder can cause intellectual disability, developmental delay, and other physical anomalies. However, it often presents with distinct physical features, such as polydactyly and obesity [8].

A comprehensive diagnostic evaluation, including a detailed medical history, physical examination, and genetic testing (such as whole-exome sequencing), is essential to accurately diagnose autosomal dominant ID and rule out other conditions [7].