A 22-month-old toddler is brought in at the recommendation of her pediatrician because she orients infrequently when her name is called. She has difficulty in pointing to objects when her mother names them. Furthermore, she is preoccupied with squares, focusing on square objects in her environment.
The toddler seems to be demonstrating early signs of autism. The early signs of autism are reduction in eye gaze, shared joint attention, social smiling, orientation to name, and coordination of different modes of communication. Early signs also include delayed babbling and development of gestures. These children may have an unusual tone of voice, demonstrate reduced imitation of actions, and be less likely to engage in imaginative play. Sensory and motor findings include visual fixation on objects, under- or overreaction to sounds, repetitive motor behaviors, and delayed fine and gross motor skills. ADHD is characterized by a pattern of inattention and/or hyperactivity that interferes with function or development. Stereotypic movement disorder refers to repetitive and purposeless motor behavior, early in development, that can often be self-injurious. Language disorder is a disorder of communication, in which the child has persistent difficulties in acquiring and using language across a variety of modalities. Specific learning disorder requires persistence of learning disability in a particular subject (e.g., arithmetic, reading, writing) for 6 months despite provision of additional help. This diagnosis is typically given in school-aged children.
2. By what age can a diagnosis of ASD be made reliably?
A. Autism can reliably be diagnosed at six months
B. Autism can reliably be diagnosed at nine months
C. Autism can reliable be diagnosed at 12 months
D. Autism can reliably be diagnosed by age two
E. Early diagnosis is futile since there are no interventions appropriate for children less than 4 years of age.
Many children demonstrate signs of autism as early as 12 months, and the disorder can reliably be diagnosed by 2 years of age. Early diagnosis can provide clarity to families. Early interventions are recommended because they offer optimal benefit for the child and his or her family, particularly because the brain is remarkably plastic in the first 3 years of life. Evidence suggests that integrated developmental and behavioral interventions can improve developmental quotients, functioning, and language skills in children who are 2 years old.
3. The toddler’s parents tell you that their daughter had been doing well until she was 10 months old and that she has been progressively deteriorating over the course of a year. The pediatrician has noted a deceleration in her head circumference, failure to grow, and a loss of previously acquired motor milestones. Prenatal, perinatal, and developmental history prior to 10 months of age did not raise any concerns. What is the likely diagnosis?
A. ASD associated with Rett syndrome
B. Childhood-onset fluency disorder
C. Developmental coordination disorder
D. Specific learning disorder
E. Tourette’s syndrome
About 10% of cases of autism occur in the context of known genetic conditions such as Rett syndrome, fragile X syndrome, Down syndrome, Angelman syndrome, Prader–Willi syndrome, Williams syndrome, neurofibromatosis type 1, tuberous sclerosis, and phenylketonuria. When this occurs, it should be coded as ASD associated with the relevant neurodevelopmental condition. Rett syndrome is characterized by profound cognitive impairment, poor communication skills, stereotypic hand movements, and pervasive growth failure beginning between ages 6 and 18 months after a period of apparently normal development including acquisition of fine motor skills and language. Childhood-onset fluency disorder is characterized by disturbances in normal fluency and time patterning of speech that manifest as repetition of sounds or syllables, prolongation of sounds, broken words, pauses in speech, word substitutions to avoid problematic words, and repetition of monosyllabic whole words such as I, you, we, and so forth. Developmental coordination disorder is a motor disorder in which the acquisition and execution of motor skills is impaired. A child with a specific learning disorder has persistent difficulties with learning and using academic skills. Domains that are impaired include reading, written expression, and mathematics. Tourette’s Syndrome requires both vocal and motor tics for at least a year.
Rett syndrome was removed from DSM-5 because it has a clear genetic basis. It is X-linked dominant. It is caused by mutations in the methyl-CpG binding protein 2 or MECP2. This condition is fatal in males by the age of 2.
National Institute of Neurological Disorders and Stroke, US National Institutes of Health. ( ). Rett syndrome fact sheet. Retrieved from http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
5. Which of the following is TRUE about medication management of ASD?
A. Lorazepam is recommended for insomnia.
B. SSRIs eliminate repetitive behaviors.
C. Melatonin reduces aggression.
D. Valproic acid eliminates repetitive behaviors.
E. Atypical antipsychotics are effective at treating irritability and aggression.
Atypical antipsychotics such as risperidone and aripiprazole are efficacious for irritability and aggression. Evidence to date does not support the use of SSRIs for repetitive behaviors or aggression in ASD. Stimulants have been shown to be effective at treating ADHD-like symptoms, and melatonin has a positive effect on initial insomnia (but not aggression).
Current best practice for preschool-aged children with ASD includes a focus on improving language, cognitive, and adaptive skills using applied behavior analysis (ABA) techniques. ABA involves empirically derived learning to produce changes in behavior that describes antecedents behavior, the behaviors themselves, and their consequences. To date there is no evidence to support the use of cognitive therapy, dialectical behavior therapy, psychodynamic psychotherapy, or existential psychotherapy in the treatment of ASD.
The most commonly occurring psychiatric comorbidities in ASD are ADHD, anxiety disorders, and depressive disorders.