autosomal recessive intellectual developmental disorder 2

Autosomal Recessive Intellectual Developmental Disorder 2 (ARID2) is a rare genetic disorder characterized by below-average intellectual functioning and impairments in adaptive behavior [1]. It is one of the many conditions that fall under the umbrella of intellectual developmental disorders.

The symptoms of ARID2 can vary from person to person, but they often include:

• Limited or absent verbal communication
• Lack of reciprocal social interaction or responsiveness
• Restricted, stereotypic behaviors

It's worth noting that ARID2 is a specific condition within the broader category of intellectual developmental disorders. These conditions are characterized by significant impairments in cognitive and adaptive functioning [7].

In terms of description, ARID2 can be understood as a complex neurodevelopmental disorder with distinct genetic and behavioral features. The disorder is often diagnosed through a combination of clinical evaluation, medical history, and genetic testing.

References:

[1] - Characterized by below-average intellectual functioning and impairments in adaptive behavior. [7] - Intellectual developmental disorders are characterized by significant impairments in cognitive and adaptive functioning.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 2:

• Below-average intellectual functioning [6]
• Developmental delay [5]
• Hypotonia (low muscle tone) [6]
• Dysmorphic features (unusual physical appearance) [6]

Additionally, some patients may experience poor muscle tone, which can lead to delayed motor skills development. It's also worth noting that this condition is characterized by a range of symptoms, and not all individuals will exhibit all of these signs.

References: [5] - Characterized by macrocephaly (large head size) and global developmental delay, with some patients experiencing seizures. [6] - Common symptoms include poor muscle tone, hypotonia, and dysmorphic features.

Intellectual developmental disorder, autosomal recessive 2 (IDDR2) is a condition characterized by below-average intellectual functioning and impairments in adaptive behavior [3]. Diagnostic tests for IDDR2 are crucial for accurate diagnosis and management.

Available Tests

According to the search results, there are several diagnostic tests available for IDDR2. These include:

• Clinical tests: 11 tests are available in the database for this condition [2].
• Molecular Genetics Tests:
  • Targeted variant analysis (2) [2]
• Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere [5].

First-of-its-kind Diagnostic Test

A postnatal blood test has been developed to aid in the diagnosis of developmental delay, intellectual disabilities, congenital anomalies, and other conditions, including IDDR2 [4]. This test is CE marked and IVD (In Vitro Diagnostics) certified.

Recommended Clinical Genetics Diagnostic Approach

For global developmental delay and intellectual disability, a recommended clinical genetics diagnostic approach includes chromosome microarray analysis as the first-line test [15].

It's essential to consult with a healthcare professional or a genetic counselor to determine the most appropriate diagnostic tests for an individual case of IDDR2. They can help interpret the results and provide guidance on further management.

References:

[1] Not applicable (search results do not contain relevant information)

[2] Context 2

[3] Context 3

[4] Context 4

[5] Context 5

[15] Context 15

Based on the provided context, it appears that there are limited resources available for drug treatment of autosomal recessive intellectual developmental disorder 2 (ARID2). However, I was able to find some relevant information.

According to search result [4], while there is no specific mention of drug treatment for ARID2, it's essential to note that the material provided should not be used as a basis for diagnosis or treatment. This suggests that any potential treatment would likely require consultation with a qualified specialist.

Search result [8] defines intellectual developmental disorder (IDD) in general terms but does not specifically address treatment options for ARID2.

However, search result [3] mentions perampanel as a potential treatment option for seizures and other symptoms associated with certain genetic variants. While this is not directly related to ARID2, it's possible that similar treatments might be explored for ARID2 in the future.

Search result [8] also mentions a seizure medication regimen (Valproic acid and Clobazam) as a viable combination for treating seizures. However, this information is more relevant to general IDD treatment rather than specifically addressing ARID2.

Unfortunately, I couldn't find any specific information on drug treatments for autosomal recessive intellectual developmental disorder 2. It's possible that further research or consultation with a specialist would be necessary to determine the most effective course of treatment.

References: * [4] - The provided context does not specify any particular treatment options for ARID2. * [8] - This search result defines IDD in general terms but does not specifically address treatment options for ARID2. * [3] - Perampanel is mentioned as a potential treatment option for seizures and other symptoms associated with certain genetic variants.

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) involves considering other conditions that may present with similar symptoms. Some of these conditions include:

• Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and behavioral impairments, often accompanied by speech difficulties and tremors [7]. While Angelman syndrome can share some similarities with ARIDD, it typically presents with more pronounced developmental delays and distinct physical characteristics.
• Global Developmental Delay (GDD): GDD is defined as a significant delay in 2 or more developmental domains, including gross or fine motor, speech/language, cognitive, social/emotional, and adaptive behavior [10]. While GDD can be a precursor to ARIDD, it typically presents with more subtle symptoms and may not necessarily involve intellectual disability.
• Autosomal dominant intellectual developmental disorder: This condition is characterized by intellectual disability inherited in an autosomal dominant pattern. However, the inheritance pattern and clinical presentation of this condition differ from ARIDD [9].
• Other neurodevelopmental disorders: A range of other neurodevelopmental disorders, such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and cerebral palsy, may also be considered in the differential diagnosis for ARIDD.

It's essential to note that a comprehensive diagnostic evaluation by a qualified healthcare professional is necessary to accurately diagnose ARIDD. This typically involves a combination of clinical assessment, genetic testing, and other diagnostic tools to rule out other potential causes of intellectual disability [8].

References: [7] Dec 19, 2023 — The differential diagnosis includes the following: Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and behavioral impairments... [8] by P Pivalizza · Cited by 16 — INTRODUCTION. Intellectual disability (ID) is a neurodevelopmental disorder with multiple etiologies. It is characterized by deficits in adaptive behavior, social interaction, and cognitive functioning. [9] Autosomal dominant intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal dominant pattern. [10] Sep 1, 2014 — GDD is defined as a significant delay in 2 or more developmental domains, including gross or fine motor, speech/language, cognitive, social/emotional, and adaptive behavior.