autosomal dominant intellectual developmental disorder

Autosomal dominant intellectual developmental disorders are a group of genetic conditions that affect cognitive and adaptive functioning, leading to significant below-average general intellectual functioning associated with impairments in adaptive behavior.

Characteristics:

• Global developmental delay (GDD) is a common feature, characterized by delays in achieving motor or mental milestones [1].
• Intellectual disability is often present, ranging from mild to severe [2][6].
• Hypotonia (low muscle tone), delayed walking, and speech delay are also commonly observed [5].
• Autistic features may be present in some cases [4].

Types:

• Autosomal dominant intellectual developmental disorder-66 (MRD66) is characterized by global developmental delay with mildly to moderately impaired cognitive functioning [2].
• Autosomal dominant intellectual developmental disorder-72 (MRD72) is associated with predominant speech delay, autistic features, and variable degrees of intellectual disability [4].

Genetic basis:

• Autosomal dominant disorders are genetic conditions in which only one copy of a mutated gene is needed to cause the disease [7].
• Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and impaired adaptive behavior [8].

References:

[1] Context 1 [2] Context 2 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8

Autosomal dominant intellectual developmental disorder, also known as MRD42, is a rare genetic neurodevelopmental disorder characterized by global developmental delay and impaired intellectual development.

Early symptoms include:

• Poor muscle tone (hypotonia) [3]
• Delays in the development of motor skills such as sitting, standing, and walking [3]
• Affected speech and language development [3]

These early symptoms can be indicative of a broader range of developmental issues. In addition to these physical symptoms, individuals with autosomal dominant intellectual developmental disorder may also experience:

• Global developmental delay: This refers to a significant delay in the achievement of motor or mental milestones, including cognitive skills [1]
• Impaired intellectual development: Individuals with this condition may experience difficulties with learning and everyday abilities necessary for independent living [6]

It's essential to note that each individual with autosomal dominant intellectual developmental disorder may exhibit unique symptoms and characteristics. A comprehensive evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.

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

Autosomal dominant intellectual developmental disorder, also known as Intellectual Developmental Disorder (IDD), can be diagnosed through various clinical and genetic tests.

Clinical Tests

• Prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member [4].
• A neurologic examination can detect vital parameters such as birth appearance, activity, weight, grimace, pulse, and respiration scores [7].

Genetic Tests

• Molecular Genetics Tests are available for IDD, including deletion/duplication analysis [1].
• Chromosomal microarray analysis is a type of genetic testing that can identify copy number variations associated with IDD [3].
• Testing for fragile X syndrome is also recommended, as it is a common cause of IDD [3].
• Karyotype analysis and metabolic testing may also be performed to rule out other conditions [3].

Exome Sequencing

• Diagnostic exome sequencing involves the analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including IDD [8].
• The intellectual disability exome includes analysis of genes such as those involved in synaptic function and neuronal development.

These tests can help diagnose autosomal dominant intellectual developmental disorder and provide valuable information for genetic counseling and family planning.

Based on the search results, it appears that there are some relevant information available about the drug treatment for autosomal dominant intellectual developmental disorders.

Risperidone is a well-documented treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorder [4]. However, it's essential to note that risperidone may not be suitable for everyone, and its effectiveness can vary depending on the individual case.

Unfortunately, there isn't much information available about specific drug treatments for autosomal dominant intellectual developmental disorders. It seems that most of the search results are related to general intellectual disability or other neurodevelopmental disorders.

However, it's worth noting that some medications may be used off-label to treat symptoms associated with autosomal dominant intellectual developmental disorders, such as behavioral problems or sleep disturbances [3].

If you're looking for more information on drug treatment options for autosomal dominant intellectual developmental disorders, I would recommend consulting a medical professional or a specialist in the field. They can provide personalized advice and guidance based on the latest research and clinical experience.

References:

• Risperidone is a well-documented treatment of disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorder [4].
• Some medications may be used off-label to treat symptoms associated with autosomal dominant intellectual developmental disorders, such as behavioral problems or sleep disturbances [3].

Autosomal dominant intellectual developmental disorders have a broad differential diagnosis, which means that they can be confused with other conditions that also present