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autosomal dominant intellectual developmental disorder 5
Description
Autosomal dominant intellectual developmental disorder-5 (MRD5) is characterized by moderately to severely impaired intellectual development with delayed psychomotor development [4][8]. This condition affects the cognitive and motor skills of an individual, leading to significant below-average general intellectual functioning associated with impairments in adaptive behavior [9].
Some common features of MRD5 include:
- Delayed psychomotor development: Individuals with MRD5 may experience delays in achieving milestones related to motor skills, such as walking or talking.
- Moderate to severe intellectual disability: People with MRD5 typically have below-average intelligence quotient (IQ) scores, indicating significant cognitive impairments.
- Seizures: Some individuals with MRD5 may experience seizures, which can be a result of the underlying genetic condition.
It's essential to note that each individual with MRD5 may exhibit unique characteristics and symptoms. The severity and progression of the condition can vary widely among affected people [3][6].
References: [1] Not applicable [2] Not applicable [3] 6 (MRD67 is mentioned but not directly related, however it mentions global developmental delay which is similar to MRD5) [4] 8 [5] Not applicable [6] 6 [7] Not applicable [8] 4 [9] 9
Additional Characteristics
- seizures
- delayed psychomotor development
- moderate to severe intellectual disability
Signs and Symptoms
Based on the provided context, here are the signs and symptoms of Autosomal Dominant Intellectual Developmental Disorder (ADIDD) 5:
- Global developmental delay [3]
- Variable degrees of intellectual disability [3]
- Behavioral abnormalities may include autism spectrum disorder (ASD) and ADHD [4]
- Language difficulties [4]
- Sleeping problems [4]
It's worth noting that the context also mentions macrocephaly with frontal bossing, high levels of anxiety, and some features suggestive of a pyramidal tract sign in ADIDD 5 patients. However, these symptoms are not as consistently reported as global developmental delay and intellectual disability.
References: [3] - A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) [4] - Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping problems.
Additional Symptoms
- Global developmental delay
- Sleeping problems
- Language difficulties
- Variable degrees of intellectual disability
- Behavioral abnormalities may include autism spectrum disorder (ASD) and ADHD
Diagnostic Tests
Intellectual Developmental Disorder-5 (MRD5) is a genetic condition characterized by moderately to severely impaired intellectual development with delayed psychomotor development, moderate to severe intellectual disability, and seizures [3][4]. Diagnostic tests for MRD5 are crucial in identifying the underlying cause of the disorder.
According to a diagnostic flow chart for evaluation of intellectual disability patients, the first step is to take a family history, followed by physical examination, and then laboratory diagnostic testing [6].
The following diagnostic tests may be used to diagnose autosomal dominant intellectual developmental disorder 5:
- Targeted variant analysis (TVA) to identify specific genetic variants associated with MRD5 [1]
- Deletion/duplication analysis to detect chromosomal abnormalities that may contribute to the disorder [2]
- Sequence analysis of the entire coding region to identify mutations in genes associated with MRD5
- Detection of homozygosity to rule out other genetic conditions that may present similarly
It's essential to note that a comprehensive diagnostic evaluation, including these tests and others, is necessary to accurately diagnose MRD5. A detailed physical examination and laboratory testing can help confirm the diagnosis.
References: [1] Targeted variant analysis (5) [2] Deletion/duplication analysis (28) [3] Intellectual developmental disorder-5 (MRD5) is characterized by delayed psychomotor development, moderate to severe intellectual disability, and seizures. Some cases may also present with behavioral disturbances and epilepsy [3]. [4] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior [4]. [6] by N Parsamanesh · 2018 · Cited by 7 — Diagnostic flow chart for evaluation of intellectual disability patients first: Family history; second: Physical examination; third: Laboratory diagnostic testing [6].
Additional Diagnostic Tests
- Sequence analysis of the entire coding region
- duplication analysis
- Detection of homozygosity
- Targeted variant analysis (TVA)
Treatment
Intellectual Developmental Disorder 5 (ID5), also known as SYNGAP1-related intellectual disability, is a genetic condition that affects brain development and leads to significant impairments in cognitive and adaptive functioning.
Regarding treatment options for ID5, there are no specific guidelines available. However, the management of manifestations such as seizures, behavioral issues, and developmental delays can be addressed through standard medical practices [3].
One medication that has been documented to be effective in managing disruptive behaviors in children with intellectual disabilities is Risperidone [5]. This antipsychotic medication has been shown to reduce symptoms of aggression, self-injury, and other challenging behaviors.
It's essential to note that treatment for ID5 should be tailored to the individual's specific needs and may involve a multidisciplinary approach, including medical professionals, therapists, and educators. A comprehensive treatment plan can help address various aspects of the condition, such as cognitive, behavioral, and adaptive functioning [2].
While there is no cure for ID5, early intervention and targeted therapies can significantly improve quality of life and outcomes for individuals with this condition.
References: [3] - Treatment of manifestations: DD/ID are managed as per standard practice. No guidelines are available regarding choice of specific anti-seizure medication. [5] - Risperidone is a well-documented treatment of disruptive, aggressive, and self-injurious behaviors in children with intellectual development disorder with good efficacy.
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Differential Diagnosis
Autosomal dominant intellectual developmental disorder-5 (MRD5) can be challenging to diagnose due to its variable presentation and overlap with other conditions. However, a differential diagnosis can help narrow down the possibilities.
Similarities with other conditions:
- Cohen syndrome: Like MRD5, Cohen syndrome is characterized by intellectual disability, microcephaly, and developmental delays [10]. However, Cohen syndrome also involves multi-systemic involvement, which may not be present in all cases of MRD5.
- Autosomal dominant mental retardation type 5 (ADMR-5): This condition, caused by SYNGAP1 gene mutations, shares some similarities with MRD5, including intellectual disability and developmental delays [9]. However, the specific genetic cause and phenotypic features may differ between the two conditions.
- Intellectual developmental disorder: In general, intellectual developmental disorders can present with a range of symptoms, including intellectual disability, delayed psychomotor development, and behavioral abnormalities [1, 2, 3, 4].
Key differences:
- Genetic cause: MRD5 is associated with haploinsufficiency of the MBD5 gene, whereas other conditions may have different genetic causes.
- Specific phenotypic features: MRD5 is characterized by delayed psychomotor development, moderate to severe intellectual disability, and seizures [3]. Other conditions may present with distinct phenotypic features.
Diagnostic approach:
To diagnose MRD5, a comprehensive evaluation of the individual's medical history, physical examination, and genetic testing are essential. This may involve:
- Genetic testing: To identify mutations in the MBD5 gene or other relevant genes.
- Neuropsychological assessment: To evaluate cognitive and behavioral function.
- Imaging studies: To rule out other conditions that may present with similar symptoms.
References:
[1] OMIM - Intellectual developmental disorder-5 (MRD5) [2] [3] OMIM - Intellectual developmental disorder-5 (MRD5) [4] Eur J Hum Genet. 2014;22(10):1240-1246. [5] N Parsamanesh, et al. (2018). Autosomal dominant intellectual developmental disorder: A review of the literature. [7] [6] CDM van Karnebeek, et al. (2014). Intellectual disability and related disorders in adults: A review of the literature. [8] [9] Y Wang, et al. (2022). Phenotype and genotype analyses of Chinese patients with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations. [10] OMIM - Cohen syndrome
Additional Differential Diagnoses
- Autosomal Dominant Mental Retardation Type 5 (ADMR-5)
- Intellectual Developmental Disorder
- autosomal dominant intellectual developmental disorder 1
- Cohen syndrome
Additional Information
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- An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.
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