Depressed and awkward: Is it more than that?

EVALUATION Psychological assessment

At her psychotherapy intake appointment with the clinical neuropsychologist, Ms. P is dressed in purple from head to toe and sits clutching her purse and looking at the ground. She is overweight with clean, fitting clothing. Ms. P takes a secondary role during most of the interview, allowing her parents to answer most questions. When asked why she is starting therapy, Ms. P replies, “Well, I’ve been using the bathroom a lot.” She describes a feeling of comfort and calmness while in the restroom. Suddenly, she asks her parents to exit the exam room for a moment. Once they leave, she leans in and whispers, “Have you ever heard of self-sabotage? I think that’s what I’m doing.”

Her mood is euthymic, with a blunted affect. She scores 2 on the Patient Health Questionnaire-9 (PHQ-9) and 10 on the Generalized Anxiety Disorder 7-item scale (GAD-7), which indicates the positive impact of medication on her depressive symptoms but continuing moderate anxious distress. She endorses fear of the night, insomnia, and suicidal ideation. She reports an unusual “constant itching sensation,” resulting in hours of repetitive excoriation. Physical examination reveals several significant scars and scabs covering her bilateral upper and lower extremities. Her vocational history is brief; she had held 2 entry-level customer service positions that lasted <1 year. She was fired due to excessive bathroom use.

As the interview progresses, the intake clinician’s background in neuropsychological assessment facilitates screening for possible developmental disorders. Given the nature of the referral and psychotherapy intake, a full neuropsychological assessment is not conducted. The clinician emphasizes verbal abstraction and theory of mind. Ms. P’s IQ was estimated to be average by Wide Range Achievement Test 4 word reading and interview questions about her academic history. Questions are abstracted from the Autism Diagnostic Observation Schedule, Module 4, to assess for conversation ability, emotional insight, awareness and expression, relationships, and areas of functioning in daily living. Developmental history questions, such as those found on the Adaptive Behavior Assessment System, 3rd edition, help guide developmental information provided by parents in the areas of communication, emotion and eye-gaze, gestures, sensory function, language, social functioning, hygiene behavior, and specific interests.

Ms. P’s mother describes a normal pregnancy and delivery; however, she states that Ms. P was “born with problems,” including difficulty with rooting and sucking, and required gastrointestinal intubation until age 3. Cyclical vomiting followed normal food consumption. Ambulation, language acquisition, toilet training, and hygiene behavior were delayed. Ms. P experienced improvements with early intervention in intensive physical and occupational therapy.

Ms. P’s hygiene is well below average, and she requires cueing from her parents. She attended general education until she reached high school, when she began special education. She was sensitive to sensory stimulation from infancy, with sensory sensitivity to textures. Ms. P continues to report sensory sensitivity and lapses in hygiene.

She has difficulty establishing and maintaining relationships with her peers, and prefers solitary activities. Ms. P has no history of romantic relationships, although she does desire one. When asked about her understanding of various relationships, Ms. P’s responses are stereotyped, such as “I know someone is my friend because they are nice to me” and “People get married because they love each other.” She struggles to offer greater insight into the nuances that form lasting relationships and bonds. Ms. P struggles to imitate and describe the physical and internal cues of several basic emotions (eg, fear, joy, anger).

Her conversational and social skills are assessed by asking her to engage in a conversation with the examiner as if meeting for the first time. Her speech is reciprocal, aprosodic, and delayed. The conversation is one-sided, and the examiner fills in several awkward pauses. Ms. P’s gaze at times is intense and prolonged, especially when responding to questions. She tends to use descriptive statements (eg, “I like your purple pen, I like your shirt”) to engage in conversation, rather than gathering more information through reflective statements, questions, or expressing a shared interest.

Ms. P’s verbal abstraction is screened using questions from the Wechsler Adult Intelligence Scale, 4th edition Similarities subtest, to which she provides several responses within normal limits. Her understanding of colloquial speech is assessed by asking her the meaning of common phrases (eg, “Get knocked down 9 times, get up 10,” “Jack and Jill are 2 peas in a pod”). On many occasions, she is able to limit her response to 1 word, (eg, “resiliency”), demonstrating intact ability to decipher idioms.

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The authors’ observations

Upon reflection of Ms. P’s clinical presentation and history of developmental delays, social deficits, sensory sensitivity since infancy, and repetitive behaviors (all which continue to impact her), the clinical team concluded that the diagnosis of autism spectrum disorder (ASD) helps explain the patient’s “odd” behaviors, more so than SPD.

ASD is a heterogenous, complex neuropsychiatric disorder characterized by a persistent deficit in social reciprocity, verbal, and nonverbal communication, and includes a pattern of restricted, repetitive and/or stereotyped behaviors and/or interests.⁵ The term “autismus” is Greek meaning “self,” and was first used to classify the qualities of “morbid self-admiration” observed in prodromal schizophrenia.⁷Due to disorganized, odd behaviors and speech, adults with ASD are sometimes misdiagnosed with schizophrenia and schizophrenia-related disorders, such as SPD.⁸ Ms. P is an example of this phenomenon. In a prospective study looking at the continuity of ASD and SPD traits, Cook et al⁹ found that higher severity levels of ASD symptoms in childhood were associated with a higher level of reported SPD traits in adolescence. Although ASD and SPD are usually diagnosed at opposite ends of the age spectrum, they do have characteristics that overlap, such as limited range of affect and tendency to be described as loners. Table 1^5,8,9 highlights some of these similarities.

To properly distinguish these disorders, keep in mind that patients with ASD have repetitive and restricted patterns of behaviors or interests that are not found in SPD, and experience deficits in forming, maintaining, and understanding relationships since they lack those skills, while patients with SPD are more prone to desire solitary activities and limited relationships.^5,9

There has been an increased interest in determining why for some patients the diagnosis of ASD is delayed until they reach adulthood. Limited or no access to the patient’s childhood caregiver to obtain a developmental history, as well as generational differences on what constitutes typical childhood behavior, could contribute to a delayed diagnosis of ASD until adulthood. Some patients develop camouflaging strategies that allow them to navigate social expectations to a limited degree, such as learning stock phrases, imitating gestures, and telling anecdotes. Another factor to consider is that co-occurring psychiatric disorders may take center stage when patients present for mental health services.¹⁰ Fusar-Poli et al¹¹ investigated the characteristics of patients who received a diagnosis of ASD in adulthood. They found that the median time from the initial clinical evaluation to diagnosis of ASD in adulthood was 11 years. In adults identified with ASD, their cognitive abilities ranged from average to above average, and they required less support. Additionally, they also had higher rates of being previously diagnosed with psychotic disorders and personality disorders.¹¹

It is important to keep in mind that the wide spectrum of autism as currently defined by DSM-5 and its overlap of symptoms with other psychiatric disorders can make the diagnosis challenging for both child and adolescent psychiatrists and adult psychiatrists and might help explain why severe cases of ASD are more readily identified earlier than milder cases of ASD.¹⁰

Ms. P’s case is also an example of how women are more likely than men to be overlooked when evaluated for ASD. According to DSM-5, the estimated gender ratio for ASD is believed to be 4:1 (male:female).⁵ However, upon systematic review and meta-analysis, Loomes et al¹² found that the gender ratio may be closer to 3:1 (male:female). These authors suggested that diagnostic bias and a failure of passive case ascertainment to estimate gender ratios as stated by DSM-5 in identifying ASD might explain the lower gender ratio.¹² A growing body of evidence suggests that ASD is different in males and females. A 2019 qualitative study by Milner et al¹³ found that female participants reported using masking and camouflaging strategies to appear neurotypical. Compensatory behaviors were found to be linked to a delay in diagnosis and support for ASD.¹³

Cognitive ability as measured by IQ has also been found to be a factor in receiving a diagnosis of ASD. In a 2010 secondary analysis of a population-based study of the prevalence of ASD, Giarelli et al¹⁴found that girls with cognitive impairments as measured by IQ were less likely to be diagnosed with ASD than boys with cognitive impairment, despite meeting the criteria for ASD. Females tend to exhibit fewer repetitive behaviors than males, and tend to be more likely to show accompanying intellectual disability, which suggests that females with ASD may go unrecognized when they exhibit average intelligence with less impairment of behavior and subtler manifestation of social and communication deficits.¹⁵ Consequently, females tend to receive this diagnosis later than males.

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