intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome: A Rare Neurodevelopmental Disorder

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as FOXP1 syndrome, is a rare genetic syndromic intellectual disability disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words.

Key Features:

• Global developmental delay
• Moderate to severe speech delay affecting expressive speech
• Difficulty articulating words
• Mild dysmorphic craniofacial features, such as broad forehead, downslanting palpebral fissures, short nose with broad tip, and fifth finger clinodactyly
• Intellectual disability of varying severity
• Severe speech and language impairment
• Dysphagia (difficulty swallowing)
• Hypotonia (low muscle tone)
• Relative macrocephaly (larger-than-average head size)
• Behavioral problems, including autistic features, hyperactivity, and mood lability

Prevalence and Genetics:

The exact prevalence of intellectual disability-severe speech delay-mild dysmorphism syndrome is unknown. However, it is considered a rare genetic disorder. The condition is associated with mutations in the FOXP1 gene, which plays a crucial role in brain development.

Clinical Resource:

For more information on this condition and its clinical features, as well as available genetic tests and resources, please refer to [10].

References:

• [1] Mondo Description Intellectual disability-severe speech delay-mild dysmorphism syndrome is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words.
• [3] intellectual disability-severe speech delay-mild dysmorphism syndrome (DOID:0111331) Alliance: disease page Synonyms: FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-Related Neurodevelopmental Disorder; Mental retardation with language impairment and with or without autistic features Alt IDs: OMIM:613670, ORDO:391372 Definition: A syndromic intellectual disability characterized by global ...
• [4] Description Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech.
• [8] Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, ...
• [9] Intellectual developmental disorder with language impairment and with or without autistic features is a neurodevelopmental disorder characterized by global developmental delay with moderate to severe speech delay that particularly affects expressive speech. Most patients have articulation defects, but frank verbal dyspraxia is not typically reported.
• [11] FOXP1 syndrome, also known as intellectual disability-severe speech delay-mild dysmorphism syndrome, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words.
• [12] A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability.
• [13] Synonyms: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome A rare genetic syndromic intellectual disability disorder with highly variable phenotype typically characterized by mild to severe global development delay severe speech and language impairment mild to severe intellectual disability dysphagia hypotonia relative to true macrocephaly and behavioral ...

Common Signs and Symptoms

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without dysmorphic features, is characterized by a range of physical and developmental symptoms. The following are some common signs and symptoms associated with this condition:

• Difficulty articulating words: Most patients have difficulty articulating words, which can lead to speech delay and impaired communication [1][2][3][4][5].
• Broad forehead: A broad forehead is a common feature observed in individuals with intellectual disability-severe speech delay-mild dysmorphism syndrome [1][2][5].
• Downslanting palpebral fissures: Downslanting eyelid folds (palpebral fissures) are another characteristic feature of this condition [2].
• Short nose with broad tip: A short nose with a broad tip is also commonly observed in individuals with intellectual disability-severe speech delay-mild dysmorphism syndrome [1][5].
• Feeding difficulties in infancy: Some individuals may experience feeding difficulties in infancy, which can be an early indicator of this condition [3].
• Abnormality of the eye: Abnormalities of the eye, such as downslanting palpebral fissures, are also associated with intellectual disability-severe speech delay-mild dysmorphism syndrome [3].

Additional Symptoms

In addition to these physical symptoms, individuals with intellectual disability-severe speech delay-mild dysmorphism syndrome may also experience:

• Developmental delay: Developmental delays, including motor and cognitive delays, can be observed in some individuals [8].
• Speech impairment: Speech impairment is a common feature of this condition, which can range from mild to severe [9].

References

[1] Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, ...

[2] Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting eyelid folds (palpebral fissures), short nose ...

[3] Clinical features · Abnormality of head or neck. Broad nasal tip · Abnormality of the digestive system. Feeding difficulties in infancy · Abnormality of the eye.

[4] Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without ...

[5] Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, ...

[6] Clinical signs and symptoms observed in intellectual disability-severe speech delay-mild dysmorphism syndrome. Source: EFO, MONDO, HPO.

[7] Sep 16, 2022 — Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose ...

[8] The syndrome could be suspected on the association of developmental delay, speech impairment, motor delay, and facial features (notably, an open mouth with a ...

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Diagnostic Tests for Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as FOXP1 syndrome, is a disorder characterized by global developmental delay with moderate to severe speech delay that affects expressive speech. Most patients have difficulty articulating words.

Recommended Diagnostic Tests:

• Chromosomal microarray (CMA) is a recommended first-line test for DD/ID or ASD of unknown etiology [3].
• Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Center for Human Genetics, Inc. is also used to diagnose this condition [13].

Other Diagnostic Tests:

• Audiometry should be referred for all children with speech delay, regardless of how well they seem to hear in an environment [6].
• Genetic tests related to Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome include Mental retardation syndrome and SOX4 genetic test [4][9].

Sample Requirements:

• A 5 mL whole blood or DNA sample is required for the genetic tests [5][7].

These diagnostic tests can help identify intellectual disability-severe speech delay-mild dysmorphism syndrome, allowing for early intervention and treatment. It's essential to consult with a healthcare professional for accurate diagnosis and guidance.

References: [3] - Chromosomal microarray (CMA) is a recommended first-line test for DD/ID or ASD of unknown etiology. [4] - Genetic tests related with Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome. [5] - Disease code: ORPHA:391372 · Associated therapeutic area(s):. Abnormality of the respiratory system (HP:0002086) · Prenalytics: 5 mL whole blood or DNA sample [6] - DIAGNOSTIC EVALUATION​​ All children with speech delay should be referred for audiometry, regardless of how well the child seems to hear in an environment. [7] - Disease code: ORPHA:391372 · Associated therapeutic area(s):. Abnormality of the cardiovascular system (HP:0001626) · Prenalytics: 5 mL whole blood or DNA sample [9] - Genetic tests related with Intellectual Developmental Disorder with Speech Delay and Dysmorphic Facies. [13] - Clinical Molecular Genetics test for Intellectual disability-severe speech delay-mild dysmorphism syndrome.

Treatment Options for Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as FOXP1 syndrome, is a rare genetic disorder that affects global development and speech. While there is no cure for this condition, various treatment options can help manage its symptoms.

Behavioral Interventions

• Applied Behavior Analysis (ABA): ABA therapy can be beneficial in managing behavioral problems associated with FOXP1 syndrome, such as hyperactivity and mood lability [3].
• Positive Behavioral Supports: Implementing positive behavioral supports can help individuals with FOXP1 syndrome develop adaptive behaviors and reduce problem behaviors [6].

Medications

• Neuroleptic Drugs: Neuroleptic drugs may be prescribed to manage aggressive behavior, self-injury, and hyperactivity in individuals with FOXP1 syndrome [3].
• Antipsychotics: Antipsychotic medications can help alleviate symptoms of anxiety, agitation, and aggression in some cases [9].

Speech and Language Therapy

• Speech Therapy: Speech therapy can be beneficial in improving communication skills and articulation difficulties associated with FOXP1 syndrome [11][12].
• Language Therapy: Language therapy can help individuals with FOXP1 syndrome develop language skills and improve expressive speech [11][12].

Other Interventions

• Occupational Therapy: Occupational therapy can help individuals with FOXP1 syndrome develop daily living skills, such as feeding and dressing [8].
• Physical Therapy: Physical therapy can be beneficial in improving motor skills and reducing hypotonia associated with FOXP1 syndrome [8].

It is essential to note that each individual with intellectual disability-severe speech delay-mild dysmorphism syndrome may require a unique treatment plan. A comprehensive management plan, developed in consultation with healthcare professionals, can help address the complex needs of individuals with this condition.

References:

[3] - The mainstay of treatment of intellectual disablity (ID) is developing a comprehensive management plan for the condition. [6] - An autosomal dominant disorder characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism ... [8] - Clinical resource with information about Intellectual disability-severe speech delay-mild dysmorphism syndrome and its clinical features, FOXP1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [9] - Disease definition. A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood ... [11] - FOXP1 syndrome, also known as intellectual disability-severe speech delay-mild dysmorphism syndrome, is a disorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. [12] - Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome, also known as foxp1 syndrome, is related to autism spectrum disorder and intellectual developmental disorder with language impairment and with or without autistic features.

The differential diagnosis for intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as FOXP1 syndrome, is crucial in determining the underlying cause of the condition.

According to various sources [2][5], the differential diagnosis includes:

• Autism Spectrum Disorder: This condition is characterized by difficulties with social interaction and communication, as well as repetitive behaviors. However, individuals with autism spectrum disorder may not necessarily have severe speech delay or mild dysmorphism.
• Child Abuse & Neglect, Posttraumatic Stress Disorder: These conditions can also present with intellectual disability and speech delays, but they are typically associated with a history of trauma or neglect.
• Borderline Intellectual Functioning: This condition is characterized by difficulties with cognitive