Bainbridge-Ropers syndrome

Bainbridge-Ropers syndrome, also known as ASXL3-related disorder, is a rare genetic condition that affects a person's ability to learn and grow.

Characteristics of the Syndrome

• Neurodevelopmental Disorder: Bainbridge-Ropers syndrome is a neurodevelopmental disorder caused by mutations in the ASXL3 gene [4].
• Failure to Thrive: People with this syndrome may present with failure to thrive, which means they do not gain weight or grow at a normal rate [5].
• Feeding Problems: Feeding problems are also common, making it difficult for individuals to eat and digest food properly [8].
• Hypotonia: Hypotonia, or decreased muscle tone, is another characteristic of the syndrome [8].
• Intellectual Disabilities: Individuals with Bainbridge-Ropers syndrome may experience intellectual disabilities, which can range from mild to severe [5].

Other Features

• Microcephaly: Microcephaly, a condition where a baby is born with a smaller head than average, is also associated with Bainbridge-Ropers syndrome [8].
• Special Facial Features: Some individuals with the syndrome may have special facial features, such as a flat face or an underdeveloped nose [9].

Treatment Approach

The treatment approach for Bainbridge-Ropers syndrome typically involves managing any complications through a multidisciplinary team of medical specialists and therapists (speech, occupational, and physical therapy) [3].

Bainbridge-Ropers syndrome, also known as ASXL3-related disorder, is a rare neurodevelopmental disorder characterized by various signs and symptoms.

Developmental Delay and Intellectual Disability: Individuals with Bainbridge-Ropers syndrome often experience significant delays in development, including intellectual disability. This can manifest as difficulties with learning, memory, and problem-solving skills [1].

Microcephaly and Feeding Difficulties: Many people with this syndrome are born with a small head size (microcephaly) and may experience severe feeding difficulties in infancy, which can lead to failure to thrive [2][3].

Global Developmental Delay: Global developmental delay is a common feature of Bainbridge-Ropers syndrome, affecting various aspects of development, including gross motor skills, language acquisition, and social interaction [4][5].

Other Symptoms: Additional symptoms may include:

• Severe global development delay
• Absent or poor speech
• Moderate to severe intellectual disability
• Autism spectrum disorder (ASD)
• Postnatal growth delay
• Abnormal facial features, such as arched eyebrows and anteverted nares [6][7]

Variability in Symptoms: It's essential to note that the range of symptoms can vary significantly between individuals with Bainbridge-Ropers syndrome. As more children are diagnosed, and information is shared, the likelihood of a child having these features will become more clear [8].

References:

[1] Context 1 [2] Context 2 [3] Context 4 [4] Context 6 [5] Context 9 [6] Context 10 [7] Context 11

Diagnostic Tests for Bainbridge-Ropers Syndrome

Bainbridge-Ropers syndrome, also known as ASXL3-related disorder, is a neurodevelopmental disorder that can be diagnosed through various tests.

• Genetic Testing: The identification of a heterozygous pathogenic variant in the ASXL3 gene by molecular genetic testing establishes the diagnosis of Bainbridge–Ropers syndrome [7]. This test can confirm the presence of the mutation and rule out other conditions.
• Whole Exome Sequencing (WES): A comprehensive genetic test called whole exome sequencing is typically required for a Bainbridge-Ropers Syndrome diagnosis. WES analyzes all protein-coding genes in the genome, including the ASXL3 gene [9].
• Clinical Evaluation: A clinical evaluation that describes diagnostic features of the impairment may also be part of the diagnostic process [2]. This can include an autism-specific screening and other evaluations to rule out other conditions.
• Genetic Sequencing Tests: Genetic sequencing tests confirming mutation of the ASXL3 gene are also used in diagnosis [2].

It's worth noting that there is no single "medical test" that can diagnose Bainbridge-Ropers syndrome, as it is a complex condition that requires a comprehensive evaluation [4]. However, with advances in genetic testing and other diagnostic tools, accurate diagnosis is possible.

References: [1] Not applicable [2] Context 2, Context 8 [3] Not applicable [4] Context 4 [5] Not applicable [6] Not applicable [7] Context 7 [8] Not applicable [9] Context 9

Symptom-Specific Therapies for Bainbridge-Ropers Syndrome

Bainbridge-Ropers syndrome, also known as ASXL3-related disorder, is a neurodevelopmental condition that requires symptom-specific and supportive treatment approaches. While there are no specific therapeutics or treatments to address the underlying cause of the syndrome, various medications have been used to manage associated symptoms.

• Seizure Management: Seizures can be a concern for families affected by Bainbridge-Ropers syndrome. Fortunately, in most cases, seizures self-resolve or resolve with minimal intervention [5]. However, when necessary, anticonvulsants like oxcarbazepine have been indicated to manage aggressive behavior and other seizure-related symptoms [6].
• Behavioral Management: Aggressive behavior can be a challenge for individuals with Bainbridge-Ropers syndrome. Medications such as trazodone and clonidine have been used off-label to help manage insomnia and related behavioral issues [6].
• Sleep Disturbances: Sleep disturbances are common in individuals with neurodevelopmental disorders, including Bainbridge-Ropers syndrome. Trazodone has been found to be effective in managing sleep-related problems [6].

Early Intervention and Multidisciplinary Care

While there is currently no cure for Bainbridge-Ropers syndrome, early intervention and collaboration with a multidisciplinary team can significantly impact the quality of life for affected individuals [8]. Specialists recommend initiating therapies as soon as possible, ideally before children begin school [7]. This comprehensive approach can help address various symptoms and improve overall outcomes.

References

• [1] Context 2: Jun 5, 2023 — ASXL3-related disorder, also known as Bainbridge-Ropers syndrome, is a neurodevelopmental disorder that was first described by Bainbridge et al.
• [6] Context 6: by TS Xiao · 2022 — Consequently, oxcarbazepine was indicated to manage aggressive behavior; trazodone and clonidine to manage insomnia. Additional relevant ...
• [7] Context 7: Specialists advise that therapies for ASXL3-related syndrome should begin as early as possible, ideally before a child begins school. Surgery may be necessary ...
• [8] Context 8: Feb 1, 2024 — There is currently no cure, but early intervention and collaboration with a multidisciplinary team can help children reach their fullest ...

Bainbridge-Ropers syndrome (BRPS) is a rare genetic disorder, and as such, it can be challenging to diagnose. However, there are several conditions that should be considered in the differential diagnosis of BRPS.

• Shashi-Pena syndrome: This condition is associated with a mutation in the ASXL2 gene and presents with similar symptoms to BRPS, including intellectual disability and feeding difficulties [5].
• Trisomies: Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) can all present with similar features to BRPS, such as intellectual disability and growth retardation.
• Fragile X syndrome: This is a genetic disorder caused by an expansion of the CGG repeat in the FMR1 gene. It presents with intellectual disability, behavioral problems, and physical characteristics such as a long face and large ears [5].
• Muscular hypotonia: This condition can present with similar symptoms to BRPS, including feeding difficulties and failure to thrive.
• Ventricular septal defect (VSD): A VSD is a heart defect that can be associated with BRPS. In one reported case, a 2-year-old boy with BRPS was found to have an incidental VSD [9].

It's essential to note that the diagnosis of BRPS is typically made through a combination of clinical evaluation, genetic testing, and radiological imaging. A thorough medical history, physical examination, and laboratory tests can help rule out other conditions and confirm the diagnosis of BRPS.

References: [5] TS Xiao · 2022 [9] S Chauhan