Catatonia Treatment in Down Syndrome Regressive Disorder with Repeated Vineland Assessment: a Case Report

To the Editor:

In this Letter to the Editor, we examine a case of Down Syndrome Regressive Disorder (DSRD) and evaluate outpatient management through the Vineland Adaptive Behavior Scales – 3^rd edition (VABS). Consent for publication was obtained from the patient’s family. To our knowledge, this is the first case reported in the literature of an improvement in Vineland scores following outpatient treatment of catatonia in DSRD.

Individuals with Down Syndrome (DS) are at risk for developing DSRD – a recently characterized disorder in which individuals develop symptoms including catatonia, mutism, encephalopathy, insomnia, and an acute regression in their ability to perform daily tasks (Hauptman et al., 2023; Jakubowicz et al., 2023). In this report, the patient was evaluated via the VABS, a standardized measure to evaluate adaptive behavior skills required for self-sufficiency across three main domains: Communication, Daily Living Skills, and Socialization (Sparrow et al., 2016). Patients are scored across these domains on a scale of 0–2, ranging from a behavior that does not occur (0), sometimes occurs (1), or usually occurs (2), the aggregate of which forms the composite score.

As outlined in Table 1, this study reports a female patient with DS who exhibited drastic behavioral changes, many of were criteria for probable DSRD, including social withdrawal, decreased oral intake, and catatonia (Santoro et al., 2022). She received Applied Behavioral Analysis (ABA) therapy and sertraline, but symptoms continued to worsen. Interventions during this period included increasing sertraline dose and as needed clonazepam prescription.

Table 1.

Description of symptoms exhibited by patient, intervention used, Vineland Adaptive Behavior Scale administration, and Bush-Francis Catatonia Rating Scale (BFCRS) score across time.

Timeline of Treatment	Age of Patient	Symptom/Diagnosis	Intervention	Behavioral Testing and BFCRS Score	Additional Support/Appointments
Month 1	14	Behavioral changes: Mannerisms Perseveration Psychotic symptoms Reduced social engagement Recurrent self-injury	Discussions with pediatrician
Month 4	15	New onset autistic behaviors	IEP Re-evaluation
Month 5	15		ABA Therapy
Month 7	15	Anxiety Needed prompting to eat and drink	Sertraline 50mg/day Discussions with pediatrician		Referred to Rheumatology and Neurology
Month 8	15	Posturing Reduced eye contact
Month 9	15	Catatonic negativism Manneristic self-injury	NAC 1000mg 2x/day Hydroxychloroquine (HCQ) 200mg/day		Rheumatology appointment – abnormal autoimmune serology (elevated anti-double stranded DNA and anti-SCL70 antibody with positive SSA, SSB, and Smith antibodies)
Month 10	15	Anxiety	Sertraline 75mg/day
Month 12	15	Anxiety Lesions on skin from self-injury	Sertraline 100mg/day Continue HCQ		Rheumatology and Neurology appointments
Month 14	16	Panic episodes Catatonic negativism	Clonazepam 0.5mg as needed
Month 16	16	Facial lesions Impetigo	Continue on NAC and sertraline		Dermatology appointment
Month 18	16	Atopic dermatitis	Dupixent 200mg every 14 days
Month 21	16	Catatonic negativism			Purchased stroller to assist with transportation
Month 37	17	Diagnosed with DSRD	Lorazepam 1mg 3x/day		Down Syndrome Clinic
Month 38	18			Vineland Administered
Month 40	18	Atopic dermatitis	Dupixent 300mg every 14 days
Month 41	18		Prednisone course: 40mg daily for 7 days, 20mg daily for 7 days, 10mg daily for 7 days, 0.5mg daily for 7 days		Referred to catatonia specialty clinic by Rheumatology and Down Syndrome Clinic
Month 42	18	DRSD/Catatonia	Lorazepam 1.25mg 3x/day Continue sertraline and NAC	9	MEND Clinic Diagnoses: ASD, Catatonia, unspecified anxiety disorder
Month 43	18	DRSD/Catatonia Autoimmune encephalitis	Lorazepam 1.5mg 3x/day IVIG infusions every 4 weeks, continued through November 2025	3
Month 45	18		IVIG ongoing	2
Month 47	18		IVIG ongoing	3
Month 48	18		Began including iron infusion in IVIG Infusion sessions	8
Month 50	19	Anxiety DSRD/Catatonia	Sertraline 150mg/day Lorazepam 2mg 3x/day	Vineland Administered	Growth Scale Value (GSV) scores show improvements compared to previously administered Vineland across Receptive, Expressive, Written, Domestic, Community, and Interpersonal Relationships subdomains. She demonstrated improvements across a variety of skills, including attention, reading and writing, preparing food, cleaning spaces, and maintaining friendships. She also showed improved understanding of safety, the use of technology, others’ opinions, and her right to vote.
Month 51	19		IVIG ongoing	2

The first VABS was administered one month after her diagnosis of DSRD, when the patient was 18 years old. In this first test, she received an adaptive behavior composite score of 60, in which her domain standard scores were 65, 47, and 58 for communication, daily living skills, and socialization categories, respectively. In the year following her diagnosis, treatment approaches included a lorazepam prescription, increased sertraline dose, a prednisone course, and a workup for autoimmune causes. The patient underwent a lumbar puncture, which was within normal limits and negative for N-methyl-D-aspartate antibodies. She began intravenous immunoglobin (IVIG) infusions for presumed autoimmune encephalitis and directly for DSRD symptoms given the emerging literature on the use of IVIG in DSRD (Santoro et al., 2024). She responded well to these collective treatments with no notable side effects, as demonstrated by improvements in both VABS score and Bush Francis Catatonia Rating Scale (BFCRS) (Table 1).

The second VABS was administered one year after the first. During this assessment, she received a composite score of 72, with communication, daily living skills, and socialization scores of 80, 67, and 73, respectively. Growth Scale Value scores showed improvement across several subdomains, as discussed in Table 1. As some papers have shown that young adult DS patients have an average composite score ranging from 50–60 (Hamburg et al., 2019), this patient’s improvement with treatments was notable. Additionally, parents noted that the patient returned to dressing and bathing herself again. Specific catatonia symptoms which improved included posturing, impulsivity, stereotypes, mannerisms, verbal output, stupor/hypoactivity, and eye contact. Per family report, the patient is near her baseline and thus, no repeat VABS is planned at this time. Given her clinical improvements, electroconvulsive therapy was also not pursued.

Recent literature highlights the possibly high prevalence of catatonia symptoms in DSRD; thus, it is imperative to understand the efficacy of treatment options for catatonia in this population (Jakubowicz et al., 2023; Smith et al., 2024). We report, for the first time, an improvement in VABS scores following long-term outpatient care for a patient with catatonia and DSRD. While we cannot differentiate whether lorazepam or IVIG was the primary effective intervention, we demonstrate here the value in using the VABS as a measure of treatment efficacy. Further, while other assessments may evaluate intellectual ability or diagnostic criteria, the VABS provides a comprehensive reflection of a patient’s functional ability – an aspect that is essential to patient clinical outcomes, and one that is not apparent through routine clinical assessment. When possible, we recommend the use of repeat standardized assessment measures of overall functionality, similar to the VABS, in the outpatient setting. This case report highlights the utility of the VABS specifically in the longitudinal assessment of clinical improvements in the treatment of catatonia in children with neurodevelopmental disorders.

Abbreviations:

VABS

Vineland Adaptative Behavior Scales

DSRD

Down Syndrome Regressive Disorder

DS

Down Syndrome

ABA

Applied Behavioral Analysis

IVIG

Intravenous Immunoglobin

BFCRS

Bush Francis Catatonia Rating Scale