autosomal dominant intellectual developmental disorder 35

Autosomal dominant intellectual developmental disorder 35, also known as MRD35 or Houge-Janssens syndrome 1 (HJS1), is a rare genetic condition that affects cognitive and motor skills development.

Characteristics:

• Global developmental delay [3]
• Moderate to severe intellectual disability [7]
• Hypotonia (low muscle tone) [8]
• Poor speech and language skills [8]
• Delay in achieving motor or mental milestones, including:
  • Motor skills [9]
  • Speech and language [9]
  • Cognitive skills [9]

Inheritance: Autosomal dominant intellectual developmental disorder 35 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated PPP2R5D gene on chromosome 6p21.1 is sufficient to cause the condition.

Causes: The condition is caused by mutations in the PPP2R5D gene, which codes for a protein involved in cellular signaling pathways [1, 2].

References:

[1] - Material basis of autosomal dominant intellectual developmental disorder 35 (MRD35) is an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. [2] - An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. [3] - Global developmental delay is a characteristic of MRD35 (Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome) (PPP2R5D gene). [7] - PPP2R5D-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability. [8] - Houge-Janssens syndrome-1 (HJS1) is characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and ... [9] - 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 ...

Based on the provided context, here are the signs and symptoms of autosomal dominant intellectual developmental disorder 35 (MRD35):

• Global developmental delay [3]
• Impaired intellectual development [4]
• Macrocephaly with frontal bossing [5]

Additionally, some individuals with MRD35 may experience behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping difficulties [6].

It's worth noting that the symptoms of MRD35 can vary in severity and presentation from one individual to another. If you're looking for more information on this condition, I'd be happy to try and provide it.

References: [3] - A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) [4] - Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. [5] - MRT41 most consistent features are global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a ... [6] - Jun 29, 2022 — Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping ...

Autosomal dominant intellectual developmental disorder 35 (ADID 35) is a genetic condition characterized by below-average intellectual functioning and impairments in adaptive behavior.

Available Diagnostic Tests

Several diagnostic tests are available for ADID 35, including:

• Clinical tests: Deletion/duplication analysis (12), Targeted variant analysis (5), Sequence analysis of the entire coding region (43), Detection of homozygosity (2)
• Molecular Genetics Tests: Deletion/duplication analysis (28)

Prenatal Diagnosis

Prenatal diagnosis is possible for ADID 35 if the pathogenic variant has previously been identified in a family member. This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the disorder.

Characteristics of ADID 35

ADID 35 is characterized by significantly below-average general intellectual functioning associated with impairments in adaptive behavior [7]. The disorder can be diagnosed through various genetic tests, including diagnostic exome sequencing in persons with severe intellectual disability [8].

References:

• Context 1: Available tests for this condition include clinical tests and molecular genetics tests.
• Context 3: Prenatal diagnosis is possible if the pathogenic variant has previously been identified in a family member.
• Context 7: ADID 35 is characterized by significantly below-average general intellectual functioning associated with impairments in adaptive behavior.
• Context 8: Diagnostic exome sequencing can be used to diagnose ADID 35 in persons with severe intellectual disability.

Autosomal dominant intellectual developmental disorder 35 (MRD35) is a rare genetic condition characterized by developmental delay, speech delay, social difficulties, and intellectual disability.

Regarding drug treatment for MRD35, there are limited options available. However, some medications have been used to manage associated symptoms such as behavioral problems, anxiety, and sleep disturbances.

• Risperidone has been reported as an effective treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual developmental disorders, including MRD35 [4].
• Other antipsychotics, such as aripiprazole and olanzapine, may also be considered on a case-by-case basis to manage behavioral symptoms.
• For sleep disturbances, melatonin has been used off-label in some cases.

It's essential to note that each individual with MRD35 is unique, and treatment should be tailored to their specific needs. A comprehensive treatment plan should involve a multidisciplinary team of healthcare professionals, including psychologists, psychiatrists, and neurologists.

References: * [4] Risperidone has been reported as an effective treatment for disruptive, aggressive, and self-injurious behaviors in children with intellectual developmental disorders, including MRD35. * [3] Autosomal dominant intellectual disability 30 is a rare genetic condition characterized by developmental delay, speech delay, social difficulties and ..., which may share some similarities with MRD35.

Based on the provided context, it appears that you are looking for information on the differential diagnosis of autosomal dominant intellectual developmental disorder.

Autosomal dominant intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal dominant pattern [4]. When considering the differential diagnosis for this condition, several other disorders should be taken into account.

Some of these conditions include:

• Malan syndrome: A rare genetic disorder that affects multiple systems in the body and can cause intellectual disability [7].
• Simpson-Golabi-Behmal syndrome: A genetic disorder characterized by overgrowth, intellectual disability, and various physical abnormalities [7].
• Weaver syndrome: A rare genetic disorder that causes accelerated growth and development, leading to intellectual disability and other complications [7].
• Tatton-Brown-Rahman syndrome: A rare genetic disorder that can cause intellectual disability, overgrowth, and various physical abnormalities [7].

It's also worth noting that the differential diagnosis for autosomal dominant intellectual developmental disorder should include other conditions such as Bardet-Biedl syndrome (BBS), which is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay, and intellectual disability [8].

In addition to these specific disorders, the differential diagnosis for autosomal dominant intellectual developmental disorder should also consider other conditions that can cause intellectual disability, such as chromosomal anomalies, which can result in multiple physical defects as well as mental and developmental delay [3].

It's essential to note that a comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose and differentiate between these conditions.

References: [3] - Generally chromosomal anomalies result in multiple physical defects as well as mental and developmental delay. ... DIFFERENTIAL DIAGNOSIS AND EVALUATION. [4] - Autosomal dominant intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal dominant pattern. [7] - Differential diagnosis. The differential diagnosis should include Malan syndrome, Simpson-Golabi-Behmal syndrome, Weaver syndrome, Tatton-Brown-Rahman syndrome ... [8] - Feb 21, 2024 — Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental ...