A child with severe speech impairment

• Age: 4 years and 5 months
• Sex: Female
• Handedness: Right-handed

Chief Complaint & Clinical Presentation

The patient is a 4.5-year-old female presenting with severe expressive language delay, mild generalized hypotonia, and features consistent with Attention-Deficit/Hyperactivity Disorder (ADHD).

• Language Profile: There is a significant dissociation between receptive and expressive language skills. The child’s receptive language (speech comprehension) is relatively age-appropriate. However, expressive language is severely impaired. Her current expressive vocabulary is limited to approximately 20 words. Progression has been remarkably slow, with the acquisition of these 20 words spanning over a 6-month period.

• Speech Production: The patient exhibits profound difficulty in coordinating the speech articulators to execute motor commands and formulate new words, highly suggestive of Childhood Apraxia of Speech (CAS).

• Neuromotor Examination: On physical examination, the child is diffusely hypotonic ("floppy body").

Behavioral Profile

Marked symptoms of hyperactivity, impulsivity, and severe attention deficit are reported. Predominantly Hyperactivity.

EEG

Patient 5y/o female with global developmental and speech delays.

• Onset of missing developmental milestones at 4 months and continued global delay.
• Began speaking a few words and then lost all verbal communication shortly after 1st year.
• Initial diagnosis of ASD. Many typical indicators of autism spectrum, however patient is very social and affectionate. Neurologist ruled out ASD.
• Clear MRI for brain damage et al.
• Recently completed extensive genetic testing with NO abnormalities found.
• Patient has seizures and takes Onfi.
• Patient GI complaints and frequent diarrhea.
• Patient unable to speak.
• Frequent sleep disturbance.
• Difficulty communicating and following simple tasks, potty training, utensils, following simple directions.
• Largely arrested cognitive development since age 3.
• Limited coordination.

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