Stocco Dos Santos type X-linked intellectual disability

Stocco Dos Santos Type X-Linked Intellectual Disability

Stocco Dos Santos type X-linked intellectual disability is a rare genetic disorder that affects the development of the brain, leading to severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis, and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present.

Characteristics:

• Severe intellectual deficit
• Hyperactivity
• Language delay or no speech
• Congenital hip luxation (partial hip dislocation)
• Short stature
• Kyphosis (curvature of the spine)
• Recurrent respiratory infections
• Aggressive behavior
• Frequent epileptic seizures

Causes:

• The syndrome is caused by mutations in the SHROOM4 gene, which affects brain development.
• Transmission is X-linked, meaning it is inherited from an affected mother to her son.

Prevalence:

• Very rare, with only a few reported cases worldwide.

Symptoms typically begin in childhood, and some babies may be born with a partial hip dislocation. The syndrome has been described in four boys from the same family.

References:

[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13]

Note: The numbers in square brackets refer to the search results provided in the context.

Severe Intellectual Deficit: Individuals with Stocco Dos Santos type X-linked intellectual disability typically experience severe intellectual deficit, which can range from mild to profound impairment [1][2].

• Hyperactivity: Many individuals with this condition exhibit hyperactivity, which can manifest as excessive restlessness, impulsivity, and difficulty sustaining attention [1].
• Language Delay: Language development is often delayed or impaired in individuals with Stocco Dos Santos type X-linked intellectual disability [1][3].
• Congenital Hip Luxation: A significant proportion of affected individuals are born with congenital hip luxation (dislocation), which can lead to mobility issues and chronic pain [4][5].
• Short Stature: Individuals with this condition often experience short stature, which can be a result of growth hormone deficiency or other underlying factors [6][7].
• Kyphosis: Kyphosis, a curvature of the spine, is another common feature of Stocco Dos Santos type X-linked intellectual disability [1].
• Recurrent Respiratory Infections: Affected individuals are prone to recurrent respiratory infections, which can be life-threatening in some cases [1][8].
• Aggressive Behavior and Epileptic Seizures: Some individuals with this condition may exhibit aggressive behavior and experience frequent epileptic seizures [1].

It's essential to note that the severity and presentation of these symptoms can vary significantly among affected individuals.

Available Diagnostic Tests for Stocco Dos Santos Type X-linked Intellectual Disability

There are several diagnostic tests available to identify Stocco Dos Santos type X-linked intellectual disability, a genetic disorder characterized by severe intellectual deficit, hyperactivity, language delay, and other physical and behavioral symptoms.

• Clinical Molecular Genetics Test: This test uses sequence analysis of the entire coding region, bi-directional Sanger Sequence Analysis, or Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection to identify mutations in the SHROOM4 gene. This test is offered by various genetic laboratories, including CGC Genetics and LifeLabs Genetics [11][14].
• 106 Gene Panel: A 106 gene panel that includes assessment of non-coding variants is recommended for patients with a clinical suspicion of X-linked intellectual disability, including Stocco Dos Santos type [5].
• Sequence Analysis of the Entire Coding Region: This test involves analyzing the entire coding region of the SHROOM4 gene to identify mutations. It is offered by various genetic laboratories, including CGC Genetics and LifeLabs Genetics.

Important Considerations

When considering diagnostic testing for Stocco Dos Santos type X-linked intellectual disability, it's essential to consult with a qualified healthcare provider or genetic counselor who can provide guidance on the most appropriate test(s) based on individual circumstances. They can also help interpret results and provide information on next steps [10].

References:

[5] A 106 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of X-linked intellectual disability. [11] Clinical Molecular Genetics test for X-linked intellectual disability, Stocco dos Santos type and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by CGC Genetics. [14] Clinical Molecular Genetics test for X-linked intellectual disability, Stocco dos Santos type and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) with CNV detection included offered by LifeLabs Genetics.

Based on the provided context, it appears that there is limited information available on the specific drug treatment for Stocco Dos Santos type X-linked intellectual disability.

However, I can provide some general information on the management and treatment of this condition. According to various sources [1, 2, 3], Stocco Dos Santos syndrome is a rare genetic disorder characterized by severe intellectual deficit, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis, and recurrent respiratory infections.

While there are no specific drugs mentioned in the context that target this condition directly, it's likely that treatment would involve a multidisciplinary approach to manage various symptoms. This may include:

• Medications for managing hyperactivity, aggression, and seizures [4]
• Physical therapy and orthopedic interventions for congenital hip luxation and kyphosis
• Speech and language therapy for language delay
• Respiratory care for recurrent respiratory infections

It's essential to note that the management of Stocco Dos Santos syndrome would require a comprehensive approach, taking into account the individual's specific needs and symptoms. A healthcare professional or a geneticist specializing in rare disorders should be consulted for personalized guidance.

References:

[1] Context 2 [2] Context 3 [4] Context 5