neurodevelopmental disorder with spasticity and poor growth

Neurodevelopmental Disorder with Spasticity and Poor Growth (NEDSG)

NEDSG, also known as Neurodevelopmental Disorder with Spasticity and Poor Growth, is a rare autosomal recessive disorder characterized by severe early-onset encephalopathy [1]. It is a complex condition that affects multiple aspects of development.

Key Features:

• Severe Early-Onset Encephalopathy: NEDSG is marked by severe brain dysfunction from birth or early infancy [4].
• Axial Hypotonia: Affected individuals often exhibit axial hypotonia, which refers to weak muscles in the trunk and limbs [5].
• Delayed Psychomotor Development: Children with NEDSG may experience delayed psychomotor development, including delays in sitting, standing, and walking [6].
• Poor Feeding and Failure to Thrive: Infants with NEDSG often have difficulty feeding and may fail to thrive due to poor growth and weight gain [7].
• Peripheral Spasticity with Hyperreflexia: As the condition progresses, individuals may develop peripheral spasticity (stiffness) accompanied by hyperreflexia (increased reflexes) [5].

Genetic Basis: NEDSG is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition [2, 8]. The causal genes associated with NEDSG include UFC1 [8].

References:

[1] Context result 1 [2] Context result 2 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

Common Signs and Symptoms

Neurodevelopmental disorder with spasticity and poor growth (NEDSG) is characterized by several distinct signs and symptoms, which can vary in severity and progression. Some of the common symptoms include:

• Poor overall growth: Affected individuals may experience stunted growth and development, leading to a lower-than-average height and weight.
• Spasticity: This condition is marked by progressive spasticity, particularly in the lower limbs, which can lead to gait difficulties and mobility issues.
• Neurodevelopmental delay: Individuals with NEDSG often exhibit significant delays in cognitive and motor development, including impaired intellectual development.
• Microcephaly: Some affected individuals may experience progressive microcephaly, a condition characterized by a smaller-than-average head size.
• Axial hypotonia: This symptom is marked by weak or floppy muscles in the trunk and limbs.

Additional Symptoms

Other common symptoms associated with NEDSG include:

• Neurodevelopmental delay: As mentioned earlier, individuals with this condition often experience significant delays in cognitive and motor development.
• Seizures: Some affected individuals may be prone to seizures, which can further exacerbate their overall health and well-being.
• Reflux: Gastroesophageal reflux (GERD) is a common symptom in individuals with NEDSG, leading to discomfort and digestive issues.

References

These symptoms are based on information from various sources, including:

1. Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. [1]
2. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. The disorder is progressive. Some ... [3][6]
3. ... neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. [4]
4. Neurodevelopmental disorder with spasticity and poor growth - Ontology Report - Rat Genome Database. [7]

Based on the available information, it appears that diagnostic tests for neurodevelopmental disorder with spasticity and poor growth (NEDSG) are not explicitly mentioned in the search results.

However, based on the context provided, it can be inferred that a diagnosis of NEDSG is likely to involve a combination of clinical evaluation and genetic testing. Here's what can be gathered from the available information:

• Clinical studies have been conducted to identify the disorder (1).
• Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity (2, 6). This suggests that a clinical evaluation may involve assessing these symptoms.
• A genetics test guide is available for NEDSG (4, 5), which implies that genetic testing may be a part of the diagnostic process.

It's also worth noting that Rett syndrome, another neurodevelopmental disorder, has similar symptoms such as poor growth and difficulty gaining weight. Diagnostic tests for Rett syndrome include genetic testing to confirm the diagnosis (9).

Therefore, it can be inferred that diagnostic tests for NEDSG may involve a combination of clinical evaluation and genetic testing.

• Clinical evaluation: assessing symptoms such as poor overall growth, progressive microcephaly, and axial hypotonia.
• Genetic testing: using a genetics test guide or other genetic testing methods to confirm the diagnosis.

Please note that this is not an exhaustive list, and actual diagnostic tests may vary depending on individual cases.

Based on the available information, it appears that there are several medications that can be used to treat the symptoms of a neurodevelopmental disorder characterized by spasticity and poor growth.

• Baclofen is mentioned as a treatment option for both spinal and cerebral spasticity [3][4]. It works better in treating spinal spasticity than cerebral spasticity, but should still be tried in both conditions.
• Dantrolene is another medication that can be used to directly reduce muscle tone [6].
• Benzodiazepines, Gabapentin, and nabiximols are also mentioned as treatments for spasticity, although they act on the central nervous system rather than directly reducing muscle tone [6].
• Tizanidine is another skeletal muscle relaxant that can be used to treat spasticity [7][9].

In addition to these medications, it's also important to address other aspects of care for individuals with this condition. This includes:

• Nutrition evaluations to address difficulties with weight gain and ensure proper nutrition [8].
• Management of reflux or constipation, which may be necessary in some cases [8].
• Skeletal muscle relaxants, such as baclofen or tizanidine, should be offered to individuals with generalized or diffuse spasticity after stroke, and monitored for effectiveness [9].

It's worth noting that the effectiveness of these treatments can vary from person to person, and a comprehensive treatment plan may involve a combination of medications and other interventions.

Based on the provided context, it appears that differential diagnosis for neurodevelopmental disorders with spasticity and poor growth is a complex topic.

Possible Causes

According to search result [3], other findings can include seizures, movement disorders (dyskinesia, spasticity, abnormal gait), vision and hearing impairment, congenital heart defects, and intellectual disability. Additionally, search result [2] mentions that truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors are common findings in neurodevelopmental disorders.

Differential Diagnosis

Search result [11] states that IRF2BPL-related disorder is clinically indistinguishable from many other inherited disorders with similar neurologic findings. This suggests that a differential diagnosis for neurodevelopmental disorders with spasticity and poor growth should consider various genetic and acquired causes, including:

• Metabolic and genetic disorders (search result [6])
• Vascular/ischemic causes (search result [9])
• Neurodevelopmental disorders such as cerebral palsy (search result [6])
• Genetic syndromes like CTNNB1 syndrome (search result [8])

Key Considerations

When considering differential diagnosis for neurodevelopmental disorders with spasticity and poor growth, it is essential to:

• Evaluate the presence of other symptoms such as seizures, vision and hearing impairment, congenital heart defects, and intellectual disability
• Consider various genetic and acquired causes, including metabolic and genetic disorders, vascular/ischemic causes, and neurodevelopmental disorders
• Perform molecular genetic testing to confirm or rule out specific conditions

References

[2] SKL Ho · 2022 · Cited by 12 [3] B Johnson-Kerner · 1993 · Cited by 27 [6] KW KRIGGER · 2006 · Cited by 1072 [8] CTNNB1 syndrome is an extremely rare genetic neurodevelopmental disorder caused by changes (pathogenic variants or mutations) in the CTNNB1 gene. [9] A genetic or presumed genetic etiology was identified in 68.9% of cases. Among acquired movement disorders, 45.1% were attributed to vascular/ischemic causes. [11] Differential Diagnosis. Because IRF2BPL-related disorder is clinically indistinguishable from many other inherited disorders with similar neurologic findings, diagnosing this condition on clinical grounds only without molecular genetic testing is not feasible.