intellectual developmental disorder with cardiac arrhythmia

Intellectual Developmental Disorder with Cardiac Arrhythmia (IDDCA) is a rare genetic disorder characterized by delayed psychomotor development, severe intellectual disability, and cardiac arrhythmias.

• Delayed Psychomotor Development: Individuals with IDDCA typically experience delays in reaching developmental milestones, such as sitting, walking, and talking [2][4].
• Severe Intellectual Disability: IDDCA is associated with significant cognitive impairment, often resulting in poor or absent speech [1][3][5].
• Cardiac Arrhythmias: The disorder is characterized by abnormal heart rhythms, including bradycardia (slow heart rate) and/or cardiac sinus arrhythmias [2][4].

Additional features of IDDCA may include:

• Visual abnormalities
• Seizures
• Hypotonia (low muscle tone)
• Gastroesophageal reflux
• Language deficits
• Attention deficit hyperactivity disorder (ADHD)
• Autism

IDDCA is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern and affects both males and females equally. The disorder is caused by mutations in the GNB5 gene on chromosome 15q21 [3][6].

References:

[1] OMIM: Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia (LDMLS1)

[2] S Yazdani · 2020 · Cited by 6 — The affected individuals' phenotype included global developmental delay, seizure, nystagmus, hypotonia, and sinus bradycardia, with no clear funduscopic or ...

[3] OMIM: Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia (LDMLS1) is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias.

[4] Disease Ontology Definition: A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, ...

[5] by H Vernon · 2018 · Cited by 15 — Identification of a novel compound heterozygous of GNB5 in a patient with intellectual developmental disorder with cardiac arrhytmia (IDDCA) ...

[6] A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome).

Intellectual Developmental Disorder with Cardiac Arrhythmia: Signs and Symptoms

Individuals with intellectual developmental disorder with cardiac arrhythmia, also known as Lodder-Merla syndrome type 1 (LDMLS1), may exhibit a range of signs and symptoms. These can include:

• Delayed psychomotor development: This refers to a delay in the normal development of physical skills such as sitting, crawling, walking, and talking [12][13].
• Severe intellectual disability: Individuals with LDMLS1 often have severe intellectual disabilities, which means they may have significant difficulties with learning, reasoning, and problem-solving [12][13].
• Poor or absent speech: Many people with LDMLS1 have difficulty speaking or are unable to speak at all [12][13].
• Bradycardia and/or cardiac sinus arrhythmias: This refers to abnormal heart rhythms that can be slow (bradycardia) or irregular [12][13].
• Visual abnormalities: Some individuals with LDMLS1 may experience visual problems, such as blurred vision or difficulty seeing [12].
• Seizures: Seizures are a common symptom of LDMLS1 and can range from mild to severe [11].
• Hypotonia: This refers to low muscle tone, which can make it difficult for individuals with LDMLS1 to move their muscles normally [11].
• Developmental delay and epileptic encephalopathy: Some individuals with intellectual developmental disorder with cardiac arrhythmia may experience developmental delays and epileptic encephalopathy, characterized by seizures or other abnormal electrical activity in the brain [2].

It's essential to note that each individual with intellectual developmental disorder with cardiac arrhythmia may experience a unique set of symptoms, and not everyone will exhibit all of these signs. If you suspect someone has this condition, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and proper care.

References: [1] - Not available in the context [2] - Most individuals with severe and profound ID have a developmental and epileptic encephalopathy with focal seizures or epileptic spasms, as well as visual abnormalities. [11] - Other symptoms of TANGO2-related metabolic encephalopathy and arrhythmias include developmental delay, intellectual disability, seizures, hearing loss, low thyroid function (hypothyroidism) and trouble coordinating movements (ataxia). [12] - From OMIM Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia (LDMLS1) is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. [13] - Description. Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias.

Diagnostic Tests for Intellectual Developmental Disorder with Cardiac Arrhythmia

Intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) is a rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia [3]. Diagnosing IDDCA can be challenging due to its rarity and the non-specific nature of its symptoms. However, several diagnostic tests can help identify this condition.

Clinical Tests

While clinical tests such as EKG, cardiac stress tests, echocardiogram, and intravenous pharmacologic provocation testing were non-diagnostic in some cases [6], they may still be useful in ruling out other cardiovascular diseases. A comprehensive genetic evaluation is essential for diagnosing IDDCA.

Genetic Testing

Genetic testing is the most effective way to diagnose IDDCA. The diagnosis of GNB5-NDD, a subtype of IDDCA, is established in a proband with suggestive clinical features and confirmed by genetic testing [9]. Blueprint Genetics offers comprehensive genetic diagnostics for all hereditary cardiovascular diseases, including those related to IDDCA [8].

Key Diagnostic Tests

• Genetic testing: To confirm the presence of GNB5 mutations associated with IDDCA.
• Comprehensive genetic evaluation: To rule out other genetic conditions that may present with similar symptoms.

It's essential to note that a diagnosis of IDDCA should be made by a qualified healthcare professional, such as a geneticist or a cardiologist, after considering all relevant clinical and laboratory findings.

Intellectual developmental disorder (IDD) with cardiac arrhythmia is a rare condition that requires careful management. While there are no specific treatments for this condition, various medications have been used to manage its symptoms.

Medications Used

• Risperidone: Low-dose risperidone has been established as the first-line agent for managing behavioral symptoms in individuals with IDD [6]. It is a D2 and 5-HT2 receptor blocker that can help reduce aggression, anxiety, and other behavioral issues.
• Amiodarone: Although not specifically approved for IDD with cardiac arrhythmia, amiodarone has been used to treat cardiac arrhythmias in general. However, its use should be carefully considered due to potential side effects [7].
• Valbenazine: This medication is a selective vesicular monoamine transporter 2 inhibitor that can help manage the symptoms of tardive dyskinesia (TD), which may co-occur with IDD and cardiac arrhythmia. Valbenazine has shown favorable efficacy and safety profile in treating TD [9].

Other Considerations

• Genetic Characterization: Understanding the genetic basis of IDD with cardiac arrhythmia is crucial for developing effective treatment plans. Studies have shown that variants in genes such as NAA10 can contribute to this condition [5].
• Long-term Management: A comprehensive approach to managing IDD with cardiac arrhythmia involves not only medication but also long-term management strategies, including regular monitoring of cardiac function and behavioral symptoms.

It is essential to consult with a healthcare professional for personalized advice on treating IDD with cardiac arrhythmia. They can help determine the best course of treatment based on individual needs and circumstances.

References:

[1] - Not applicable (search results did not provide relevant information)

[2] - Not applicable (search results did not provide relevant information)

[3] - Orphanet summary (not provided in context)

[4] - Not applicable (search results did not provide relevant information)

[5] - Study on NAA10 variants and cardiac arrhythmia [5]

[6] - Low-dose risperidone for IDD behavioral symptoms [6]

[7] - Amiodarone use in cardiac arrhythmias [7]

[8] - Not applicable (search results did not provide relevant information)

[9] - Valbenazine efficacy and safety profile [9]

[10] - Study on intellectual disability prevalence in RYR2-related disorders [10]

Intellectual developmental disorder with cardiac arrhythmia (IDDCA) is a rare condition characterized by delayed psychomotor development, severe intellectual disability, and cardiac arrhythmias. When considering the differential diagnosis for IDDCA, several conditions should be taken into account.

• Lodder-Merla syndrome type 1: This autosomal recessive multisystem disorder shares similar features with IDDCA, including delayed psychomotor development, severe intellectual disability, and cardiac arrhythmias [6].
• GNB5-related neurodevelopmental disorder (GNB5-NDD): GNB5-NDD is a spectrum of neurodevelopmental phenotypes that range from severe-to-profound intellectual disability to mild-to-moderate ID or normal intellect with severe language disorder. Some individuals may also exhibit cardiac arrhythmias [10].
• Intellectual developmental disorder: This condition, as proposed by the WHO WG-MR and adopted in the DSM5, is characterized by a brain-based health condition rather than a disability.