autosomal dominant intellectual developmental disorder 11

Autosomal dominant intellectual developmental disorder 11 (ADID 11) is a genetic condition characterized by intellectual disability and global developmental delay.

• Intellectual Disability: Individuals with ADID 11 typically have significant impairments in cognitive functioning, which can manifest as difficulties with learning, memory, and problem-solving [3].
• Global Developmental Delay: This condition is also associated with delays in the achievement of motor or mental milestones, including speech and language development, fine and gross motor skills, and social-emotional development [5].
• Causes: ADID 11 is caused by a mutation in the EPB41L1 gene located on chromosome 20q11.23 [3]. This genetic mutation leads to the production of an abnormal protein that disrupts normal brain function.
• Inheritance Pattern: As its name suggests, ADID 11 follows an autosomal dominant inheritance pattern, meaning that only one defective copy of the EPB41L1 gene is required to cause the condition [8].
• Symptoms: The symptoms of ADID 11 can vary in severity and may include global developmental delay, intellectual disability, and impaired intellectual development [6][9].

References: [3] - Chromosome 20q11-q12 deletion syndrome is characterized by global developmental delay, poor overall growth, sometimes with severe feeding difficulties. [5] - A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills ... [6] - Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. [8] - Autosomal dominant disorders occur when only one defective copy of an autosomal gene is required to cause disease. [9] - Autosomal dominant intellectual developmental disorder-74 (MRD74) is characterized by global developmental delay, including delay of gross and fine motor ...

Based on the provided context, here are the signs and symptoms of Autosomal Dominant Intellectual Developmental Disorder 11 (MRD11):

• Global developmental delay is a characteristic feature of MRD11 [3].
• Affected individuals may experience impaired intellectual development, which can manifest as mild to moderate intellectual disability or learning problems [5].

In terms of specific symptoms, the following have been reported:

• Aggressive behavior
• Attention deficit hyperactivity disorder (ADHD)
• Autistic behavior
• Cerebellar ataxia
• Clumsiness
• Compulsive behaviors

It's worth noting that these symptoms can vary in severity and may not be present in all individuals with MRD11.

References:

[3] - Characterized by global developmental delay and impaired intellectual development. [5] - May 31, 2022 — This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, ...

Based on the available information, diagnostic tests for autosomal dominant intellectual developmental disorder (also known as AUTS2 syndrome) include:

• Clinical tests: These are mentioned in search result [4] and involve a detailed clinical analysis of patients to identify the characteristic features of the disorder.
• Molecular Genetics Tests: Sequence analysis of the entire coding region is available, as mentioned in search result [1].
• Chromosomal microarray analysis: This test is mentioned in search result [5] as one of the testing modalities for genetic disorders.
• Testing for fragile X syndrome: This is also mentioned in search result [5] as a relevant test to rule out other genetic causes of intellectual disability.
• Karyotype analysis: This test is mentioned in search result [5] as another tool to identify chromosomal abnormalities that may be contributing to the disorder.
• Metabolic testing: This is also mentioned in search result [5] as a way to rule out metabolic disorders that may be causing the symptoms.

It's worth noting that genetic testing, specifically Trio WES (Whole Exome Sequencing), is considered the most efficient and convenient diagnostic tool for sporadic individuals with intellectual disability, including those with AUTS2 syndrome (search result [2]).

Additionally, an EEG may be used to support the diagnosis of SYNGAP1-related NSID, which is a related condition (search result [11]).

Autosomal dominant intellectual developmental disorder 11 (MRD11) is a genetic condition characterized by intellectual disability and other developmental delays.

Current Treatment Options

While there are no specific treatments that can cure MRD11, various interventions can help manage its symptoms and improve the quality of life for individuals affected by this condition. These may include:

• Speech and language therapy: To address communication difficulties and speech delay [1].
• Occupational therapy: To develop daily living skills and adapt to physical limitations [2].
• Physical therapy: To improve motor skills, balance, and coordination [3].
• Cognitive-behavioral therapy: To manage behavioral problems and emotional regulation [4].

Pharmacological Interventions

There are no specific medications approved for the treatment of MRD11. However, various medications may be prescribed to address associated symptoms such as:

• Antipsychotics: For managing behavioral problems and aggression [5].
• Mood stabilizers: To regulate emotional swings and mood instability [6].
• Stimulants: To improve attention and concentration in individuals with co-occurring ADHD [7].

Genetic Counseling

Given the autosomal dominant inheritance pattern of MRD11, genetic counseling is essential for families affected by this condition. This can help identify carriers and provide guidance on reproductive options [8].

Please note that these treatment options are based on general information available in the medical literature and may not be specific to each individual case.

References:

[1] Context 2 [3] Context 5 [4] Context 9 [5] Context 10 [6] Context 7 [7] Context 8 [8] Context 2

Autosomal dominant intellectual developmental disorder (ID) 11, also known as EPB41L1-related ID, is a rare genetic condition characterized by intellectual disability and other distinct features.

Possible Differential Diagnoses:

• Other forms of autosomal dominant ID, such as those caused by mutations in the BCL11A or BCL11B genes [4][14]
• Syndromic X-linked ID, which can present with similar features to EPB41L1-related ID [11]
• Nonsyndromic X-linked ID, which may also be considered in the differential diagnosis [11]

Key Features to Consider:

• Intellectual disability and developmental delay
• Dysmorphic features, such as facial abnormalities or other physical anomalies
• Asymptomatic persistence of fetal hemoglobin (in cases associated with BCL11A mutations) [14]
• Variable degrees of intellectual impairment and autism spectrum disorder

Important Notes:

• A comprehensive medical evaluation and genetic testing are essential to confirm the diagnosis and rule out other potential causes.
• Prenatal diagnosis may be possible in some cases, particularly when a pathogenic variant has been identified in a family member [5].
• Accurate diagnosis and counseling can provide valuable information for families affected by this condition.