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intellectual developmental disorder with autistic features and language delay, with or without seizures

Description

Intellectual Developmental Disorder with Autistic Features and Language Delay (IDDALDS)

IDDALDS is a neurodevelopmental disorder characterized by intellectual disability, autistic features, and language delay, which may occur with or without seizures. This condition affects individuals' cognitive, social, and communication skills.

  • Key Features:
    • Intellectual Disability: Individuals with IDDALDS often experience significant delays in cognitive development, affecting their learning, problem-solving, and adaptive behaviors [1][3].
    • Autistic Features: People with IDDALDS may exhibit autistic traits, such as difficulties with social interactions, verbal and nonverbal communication, and repetitive behaviors [2][6].
    • Language Delay: Individuals with IDDALDS often experience significant delays in language development, which can impact their ability to communicate effectively [1][4].
    • Seizures: Some individuals with IDDALDS may experience seizures, although this is not a universal feature of the condition [5].

IDDALDS is considered an autosomal dominant neurodevelopmental disorder, meaning that it is inherited in an autosomal dominant pattern. This means that a single copy of the mutated gene is sufficient to cause the condition.

References:

[1] Context 1 [2] Context 6 [3] Context 3 [4] Context 5 [5] Context 5 [6] Context 6

Additional Characteristics

  • Seizures
  • Intellectual Disability
  • Language Delay
  • Autistic Features

Signs and Symptoms

Intellectual Developmental Disorder with Autistic Features and Language Delay

Individuals with intellectual developmental disorder with autistic features and language delay (IDDALDS) may exhibit a range of signs and symptoms. These can vary in severity and impact daily life.

  • Noticeable delays: Delays are often observed, particularly in speech development [2]. This can be one of the first signs of a developmental problem.
  • Language delay: Delayed language development is a common symptom, which may affect communication skills [5].
  • Autistic features: Individuals with IDDALDS may display autistic features, such as:
    • Limited eye contact and body language [6]
    • Repetitive motions or speech
  • Seizures: Some individuals with IDDALDS may experience seizures, which can be a significant concern.
  • Intellectual disability: IDDALDS is characterized by intellectual developmental disorder, which can impact learning and reasoning abilities [9].
  • Social difficulties: Individuals with IDDALDS may face challenges in social interactions, empathy, and social judgment.

It's essential to note that each individual with IDDALDS is unique, and the severity of symptoms can vary. Early diagnosis and intervention are crucial for providing appropriate support and therapies.

References: [1] - Not applicable (context does not contain relevant information) [2] - Context 2 [5] - Context 5 [6] - Context 6 [9] - Context 9

Additional Symptoms

  • Seizures
  • Intellectual disability
  • Social difficulties
  • Autistic features
  • Language delay
  • Noticeable delays

Diagnostic Tests

Diagnostic Tests for Intellectual Developmental Disorder with Autistic Features and Language Delay

Intellectual developmental disorder (IDD) with autistic features and language delay is a complex condition that requires comprehensive diagnostic testing. The following tests are commonly used to diagnose IDD with autistic features and language delay:

  • Developmental Screening Tools: These tools assess various aspects of development, including cognitive, motor, language, and social skills. Examples include the Bayley Scales of Infant Development (BSID) [10], the Mullen Scales of Early Learning (MSEL) [11], and the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) [12].
  • Clinical Assessments: Trained professionals, such as psychologists or psychiatrists, conduct comprehensive clinical assessments to evaluate an individual's cognitive, social, and emotional functioning. These assessments may include interviews with the individual and their caregivers, behavioral observations, and review of medical history.
  • Neuropsychological Tests: Neuropsychological tests assess specific aspects of cognition, such as attention, memory, executive functions, and language processing. Examples include the Wechsler Adult Intelligence Scale (WAIS) [13] and the Stanford-Binet Intelligence Scale (SB5) [14].
  • Imaging Studies: Imaging studies, such as magnetic resonance imaging (MRI), may be used to rule out other conditions that could be causing symptoms of IDD with autistic features and language delay.
  • Genetic Testing: Genetic testing may be conducted to identify genetic mutations associated with IDD with autistic features and language delay.

It's essential to note that a comprehensive diagnostic evaluation involves a multidisciplinary team, including psychologists, psychiatrists, neurologists, speech-language pathologists, occupational therapists, and other professionals. A thorough diagnosis requires a combination of these tests and assessments to accurately identify the underlying condition.

References: [10] - Context 11 [11] - Context 10 [12] - Context 10 [13] - Context 13 [14] - Context 14

Additional Diagnostic Tests

  • Imaging Studies
  • Genetic Testing
  • Bayley Scales of Infant Development (BSID)
  • Mullen Scales of Early Learning (MSEL)
  • Wechsler Preschool and Primary Scale of Intelligence (WPPSI)
  • Clinical Assessments
  • Neuropsychological Tests
  • Wechsler Adult Intelligence Scale (WAIS)
  • Stanford-Binet Intelligence Scale (SB5)

Treatment

Treatment Options for Intellectual Developmental Disorder with Autistic Features and Language Delay

Intellectual developmental disorder (IDD) with autistic features and language delay is a complex condition that requires a comprehensive treatment approach. While there is no cure for IDD, various medications can help manage associated symptoms such as irritability, seizures, and behavioral issues.

  • Antipsychotic Medications: The FDA has approved the use of antipsychotic drugs like risperidone and aripiprazole to treat irritability associated with autism spectrum disorder (ASD), which is often comorbid with IDD [1]. These medications can help reduce symptoms of irritability, aggression, and anxiety.
  • Seizure Management: For individuals with IDD and seizures, anticonvulsant medications such as valproate and lamotrigine may be prescribed to control seizure activity [2].
  • Behavioral Interventions: Behavioral therapies like applied behavior analysis (ABA) and positive behavioral supports can help manage challenging behaviors associated with IDD.
  • Speech and Language Therapy: Speech and language therapy can be beneficial for individuals with IDD and language delay, helping to improve communication skills and reduce frustration.

It's essential to note that each individual with IDD is unique, and treatment plans should be tailored to their specific needs. A multidisciplinary team of healthcare professionals, including psychiatrists, psychologists, speech therapists, and occupational therapists, can work together to develop a comprehensive treatment plan.

References:

[1] FDA approval for risperidone and aripiprazole in treating irritability associated with ASD (2021) [Context 1]

[2] Management of seizures in individuals with IDD (no specific reference provided, but general knowledge on the topic)

Note: The above information is based on the context provided and may not be an exhaustive list of treatment options. It's always best to consult a healthcare professional for personalized advice.

Recommended Medications

  • Speech and Language Therapy
  • Antipsychotic Medications
  • Seizure Management (valproate, lamotrigine)

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

The differential diagnosis of intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS) involves distinguishing it from other neurodevelopmental disorders that may present with similar symptoms. According to the diagnostic criteria, IDDALDS is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum [10].

To differentiate IDDALDS from other conditions, clinicians must be aware of the following:

  • Autism Spectrum Disorder (ASD): While IDDALDS shares some features with ASD, such as language delay and autistic behaviors, it is distinguished by the presence of intellectual developmental disorder. Practitioners should be familiar with the diagnostic criteria for ASD and how co-occurring conditions may manifest in the context of ASD [12].
  • Intellectual Disability (ID): The differential diagnosis between IDDALDS and ID can be challenging, as some core features of ASD related to social communication and language skills may overlap with those of ID. However, IDDALDS is characterized by global developmental delay, variable intellectual disability, and impaired speech development [7].
  • TANC2-related disorders: These are categorized as a neurodevelopmental syndrome with associated psychiatric findings, which can be distinguished from IDDALDS by the presence of specific genetic mutations [3].

To accurately diagnose IDDALDS, clinicians should consider the following:

  • Global developmental delay: A significant delay in multiple areas of development, including cognitive, language, and motor skills.
  • Variable intellectual disability: Intellectual functioning that varies across individuals with IDDALDS.
  • Impaired speech development: Language difficulties that are not solely due to hearing or speech disorders.
  • Behavioral abnormalities: Autistic behaviors and other behavioral issues that are not solely due to ID.

By considering these factors, clinicians can accurately diagnose IDDALDS and provide appropriate treatment and support for individuals with this condition.

Additional Differential Diagnoses

Additional Information

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DOID:0081430
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MIM:618906
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IDDALDS
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intellectual developmental disorder with autistic features and language delay, with or without seizures
IAO_0000115
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23.
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http://purl.obolibrary.org/obo/DOID_0060307
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t361512

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