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autosomal recessive intellectual developmental disorder 11

Description

Autosomal Recessive Intellectual Developmental Disorder 11 (ARID11) is a neurodevelopmental disorder characterized by impaired intellectual development.

  • The condition is caused by a mutation in the EPB41L1 gene located on chromosome 20q11.23 [7].
  • Individuals with ARID11 may experience global developmental delay, poor overall growth, and severe feeding difficulties [1].
  • They may also exhibit limited or absent verbal communication, lack of reciprocal social interaction or responsiveness, and restricted, stereotypic behaviors [2].
  • The disorder is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4][6].

It's worth noting that ARID11 is a rare genetic disorder, and more research is needed to fully understand its characteristics and effects on individuals with the condition.

References: [1] Chromosome 20q11-q12 deletion syndrome [2] It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic ... [4] Autosomal recessive intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal recessive pattern. [6] Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient ... [7] Autosomal dominant intellectual developmental disorder 11 is caused by a mutation in the EPB41L1 gene located on chromosome 20q11.23. Categories. Global: ...

Additional Characteristics

  • Global developmental delay
  • Impaired intellectual development
  • Poor overall growth
  • Severe feeding difficulties
  • Limited or absent verbal communication
  • Lack of reciprocal social interaction or responsiveness
  • Restricted, stereotypic behaviors

Signs and Symptoms

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 11 (MRT71):

  • Clinical features: The condition is characterized by a triad of limited or absent verbal communication, lack of reciprocal social interaction or responsiveness, and restricted, stereotypic behavior [12].
  • Additional signs and symptoms: Abnormalities of connective tissue, which support the body's joints and organs, are also associated with this disorder [12].
  • Early symptoms: Poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking are early indicators of this condition [13].
  • Speech affected: Speech is also impacted, although specific details about the nature of speech difficulties are not provided in the context.
  • Classification: Autosomal recessive non-syndromic intellectual disability is a classification for this disorder, indicating that it is inherited in an autosomal recessive pattern and is characterized by intellectual disability without any other associated symptoms [15].

Please note that these details are based on the information available in the provided context. If you need more comprehensive or detailed information, I recommend consulting a medical professional or a reliable health resource.

References: [12] - Context #12 [13] - Context #13 [15] - Context #15

Additional Symptoms

  • poor muscle tone (hypotonia)
  • speech difficulties
  • limited or absent verbal communication
  • lack of reciprocal social interaction or responsiveness
  • restricted, stereotypic behavior
  • abnormalities of connective tissue
  • delays in motor skills development

Diagnostic Tests

Based on the provided context, here are some diagnostic tests for Autosomal Recessive Intellectual Developmental Disorder (ARID):

  • Chromosomal Microarray Analysis: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [6].
  • Whole Exome Sequencing (WES): WES has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders, including ARID [13]. It can help uncover genetic causes in patients with unexplained DD/ID.
  • Exome-based Copy Number Variation (CNV) Analysis: This analysis was performed for 17 patients with developmental delay and/or intellectual disability to identify the genetic causes of their condition [14].
  • Genetic Testing: Genetic testing, including sequencing and CNV analysis, can help diagnose ARID in individuals with unexplained DD/ID [7].
  • Chromosome Microarray: Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere [8].

These diagnostic tests can help identify the genetic causes of ARID, which is essential for providing accurate diagnoses and counseling to individuals with this condition.

References: [6] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [7] by JM Savatt · 2021 · Cited by 171 — Here we review the utility of genetic testing in patients with neurodevelopmental disorders and describe the three major testing modalities and their yields. [8] Sep 1, 2014 — Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere ... [13] Introduction Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective method for uncovering genetic causes in patients with unexplained DD/ID. [14] Abstract. Background: Whole-exome sequencing (WES) has been recommended as a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (NDDs). We aimed to identify the genetic causes of 17 children with developmental delay (DD) and/or intellectual disability (ID).

Additional Diagnostic Tests

  • Genetic Testing
  • Whole Exome Sequencing (WES)
  • Chromosomal Microarray Analysis
  • Exome-based Copy Number Variation (CNV) Analysis
  • Chromosome Microarray

Treatment

Based on the provided context, it appears that there are limited resources available for the treatment of autosomal recessive intellectual developmental disorder (ID) 11.

However, according to search result [2], a patient with a similar condition was treated with a combination of Valproic acid and Clobazam, which presented as a viable option to control seizures. This suggests that certain medications may be effective in managing specific symptoms associated with ID 11.

It's essential to note that the material provided is not intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment (search result [3]).

In general, optimal assessment and treatment of psychiatric illness in children and adolescents with ID/IDD includes modifications in diagnostic and treatment techniques, such as those mentioned in search result [9].

Regarding specific drug treatments for autosomal recessive ID 11, there is limited information available. However, it's essential to consult a qualified specialist for personalized advice on managing this condition.

  • Possible medication options:
    • Valproic acid (search result [2])
    • Clobazam (search result [2])
  • Important considerations:
    • Consult a qualified specialist for diagnosis and treatment (search results [3], [9])

Recommended Medications

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) involves a range of conditions that can present with similar symptoms, such as intellectual disability and developmental delays.

Some possible differential diagnoses for ARIDD include:

  • Autosomal dominant intellectual developmental disorders: These are conditions characterized by intellectual disability inherited in an autosomal dominant pattern. Examples include autosomal dominant intellectual developmental disorder-69 (MRD69) [5].
  • X-linked intellectual disabilities: These are conditions caused by mutations on the X chromosome, which can lead to intellectual disability and other symptoms. Research has shown that autosomal dominant intellectual disability (ADID) and X chromosomal intellectual disability (XLID) have been the focus of research, apart from other forms of ID [7].
  • Other genetic disorders: ARIDD can be caused by mutations in various genes, and differential diagnosis should consider other genetic conditions that may present with similar symptoms. For example, homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems [3].
  • Environmental factors: In some cases, ARIDD can be caused by environmental factors such as prenatal exposure to toxins or infections during pregnancy.

It's essential to note that the differential diagnosis for ARIDD is extensive, and a comprehensive evaluation by a qualified healthcare professional is necessary to determine the underlying cause of intellectual disability and developmental delays [9].

References:

[3] Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

[5] Autosomal dominant intellectual developmental disorder-69 (MRD69) is characterized by developmental delay with variably impaired intellectual development.

[7] Apart from other forms of ID, research has shown that autosomal dominant intellectual disability (ADID) and X chromosomal intellectual disability (XLID) have been the focus of research.

[9] Intellectual disability (ID) is a neurodevelopmental disorder with multiple etiologies. It is characterized by deficits in cognitive, adaptive, and social functioning.

Additional Differential Diagnoses

  • Other genetic disorders
  • Environmental factors
  • Autosomal dominant intellectual developmental disorders
  • X-linked intellectual disabilities

Additional Information

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