autosomal dominant intellectual developmental disorder 47

Autosomal Dominant Intellectual Developmental Disorder 47 (ADID47) is a rare genetic condition that affects cognitive and motor development in children.

Characteristics:

• Global developmental delay, which means a delay in achieving milestones in various domains such as motor skills, speech and language, and cognitive abilities [1].
• Intellectual disability, which can range from mild to severe [2].
• Hypotonia (low muscle tone) is often present, leading to delayed walking or other motor skills [3].

Causes:

• ADID47 is caused by a mutation in the KANSL1 gene, which is responsible for encoding a protein involved in brain development and function [4].

Symptoms:

• Delayed speech and language development
• Cognitive impairment, including difficulties with learning and memory
• Motor skills delays, such as delayed walking or other physical abilities
• Hypotonia (low muscle tone)

It's essential to note that every individual with ADID47 may experience a unique set of symptoms and challenges. Early diagnosis and intervention can significantly impact the quality of life for individuals with this condition.

References:

[1] - 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 ... (Search Result 2) [2] - A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior. (Search Result 6) [3] - Autosomal dominant 56 is a form of intellectual disability characterized by global developmental delay, intellectual disability, hypotonia, delayed walking, ... (Search Result 3) [4] - Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient ... (Search Result 8)

Based on the available information, here are the signs and symptoms of autosomal dominant intellectual developmental disorder 47 (MRD47):

• Global developmental delay: MRD47 is characterized by global developmental delay, which means that affected individuals may experience delays in various aspects of development, such as cognitive, motor, and language skills [1].
• Impaired intellectual development: Individuals with MRD47 may have impaired intellectual development, which can manifest as mild to moderate intellectual disability or learning problems [9].
• Unique personality characteristics: Some people with MRD47 may exhibit unique personality characteristics, although the specific nature of these traits is not well-defined in the available information.
• Behavioral abnormalities: Behavioral abnormalities, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), have been reported in some individuals with MRD47 [6].
• Language delay: Language development may be delayed or impaired in individuals with MRD47.
• Special schooling needs: Some people with MRD47 may require special schooling due to their developmental delays and intellectual impairments.

It's essential to note that the specific signs and symptoms of MRD47 can vary widely among affected individuals, and not everyone will exhibit all of these characteristics. If you have any further questions or would like more information on this topic, please don't hesitate to ask!

Based on the available information, diagnostic tests for autosomal dominant intellectual developmental disorder 47 (also known as Intellectual Developmental Disorder, Autosomal Dominant 47) may include:

• Genetic testing: This can involve chromosomal microarray analysis, testing for fragile X syndrome, karyotype analysis, and metabolic testing [4].
• Exome sequencing: The intellectual disability exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with non-syndromic intellectual disability [9].
• Clinical evaluation: A comprehensive clinical evaluation by a qualified healthcare professional is essential to diagnose autosomal dominant intellectual developmental disorder 47. This may involve assessing the individual's cognitive and adaptive functioning, as well as their medical history.

It's worth noting that prenatal diagnosis is possible where the pathogenic variant has previously been identified in a family member [2]. However, this should only be considered under the guidance of a qualified healthcare professional.

References: [4] P Pivalizza · Cited by 16 — [9] by N Parsamanesh · 2018 · Cited by 7 —

Autosomal dominant intellectual developmental disorder (ID) 47, also known as ADID 47, is a rare genetic condition characterized by intellectual disability and other developmental delays.

Treatment Options

While there is no cure for ADID 47, various treatment options can help manage its symptoms. According to the search results, one of the well-documented treatments for disruptive, aggressive, and self-injurious behaviors in children with ID is Risperidone [4]. This medication has been shown to be effective in reducing these behaviors in children with intellectual development disorder.

Other Interventions

In addition to Risperidone, other interventions may also be beneficial in managing the symptoms of ADID 47. These can include:

• Genetic counseling: To inform parents and caregivers about the risk of passing on the condition to future generations [1].
• Speech and language therapy: To help individuals with ID develop communication skills and improve their ability to interact with others.
• Occupational therapy: To help individuals with ID develop daily living skills, such as dressing, grooming, and feeding themselves.
• Physical therapy: To help individuals with ID develop physical skills, such as walking, running, and other motor activities.

Prenatal Diagnosis

In some cases, prenatal diagnosis may be possible if the pathogenic variant has previously been identified in a family member [6]. This can provide valuable information for parents-to-be who are at risk of passing on the condition to their child.

It's essential to note that each individual with ADID 47 is unique and may require a tailored treatment plan. A comprehensive evaluation by a multidisciplinary team, including geneticists, psychologists, speech therapists, occupational therapists, and other specialists, can help determine the most effective course of action for each person.

References:

[1] H El Mouhi (2023) - [Context 1] [4] Risperidone treatment for disruptive behaviors in children with ID [Context 4] [6] Prenatal diagnosis for ADID 47 [Context 6]

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

Some of the disorders that should be considered in the differential diagnosis of ADIDD include:

• Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and developmental disabilities, often accompanied by speech difficulties and epilepsy [7].
• Cohen syndrome: A rare genetic disorder marked by multi-systemic involvement, causing developmental delays, intellectual disabilities, microcephaly, and other physical abnormalities [9].
• Bardet-Biedl syndrome (BBS): A genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delays, and intellectual disability [10].

It's also worth noting that the differential diagnosis for ADIDD can be extensive, especially in cases where there is no clear family history of the condition. Prenatal diagnosis may be possible if the pathogenic variant has been identified in a previous pregnancy or in a family member [4].