Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients

Figures & data

Table 1 Symptoms of catatonia in DS using the Bush-Francis Catatonia Rating Scale (BFCRS)

Notes: = symptom reported or observed at first visit. = symptom reported or observed in follow-up. *Wachtel et al, 2019.³⁴

Table 2 Demographic, genetic, medical and psychiatric features in seven cases of DS and catatonia

	1. BK	2. MS	3. BC	4. PL	5. JT	6. CN	7. BI	Composite
Gender	M	F	F	F	F	F	F	1M:6F
Age at diagnosis (yrs)	19	19	33	25	26	19	25	19–33 yrs
Age- symptom onset (yrs)	18	13	25	15–19	26	17	19	13 −25 yrs
Diagnosis delay	9 mo	6 yrs	8 yrs	10 years	1 mo	2 yrs	6 yrs	1mo - 10 yrs
Follow up period	6 yrs	5.2 yrs	5 yrs	3.5 yrs	3.2 yrs	2.8 yrs	2.7 yrs	2.7 −6 yrs
Current functioning(% baseline)	90%	80%	90%	95%	(100%)^b	90%	85%	80%-100%
Cytogenetic diagnosis	T21	T21	T21	T21	T21	T21 mosaic	T21	6=T21 1=mosaic
Premorbid Cognitive Testing	Moderate ID	FSIQ =29	–	–	–	–	–	–
Premorbid adaptive functioning	High	Low	Medium	High	Medium	Low to Medium	High	–
Premorbid reading level	7^th grade	none	4^th grade	5^th grade	5^th grade	2^nd grade	7^th grade	0–7^th grade
Potential precipitating stressors	None	Aggressive classmates	Death of father	Leaving HS	None	Father ill	Parent divorce	71%
Congenital heart disease	-	PDA – spontaneous closure	ASD secundum	ASD - spontaneous closure	ASD, PDA- spontaneous closure	AV canal surgery – 6 mo	-	71%
Ophthalmic disorders; visual impairment	myopia, esotropia	myopia, astigmatism	esotropia, s/p surgery	astigmatism	myopia, esotropia	esotropia, s/p surgery	esotropia s/p surgery	100%
Allergies	Hay fever	Hay fever	None	Hay fever	None	None	Hay fever	57%
Medical history - other	Sleep apnea^a	–	Sleep apnea^a Osteopenia (DEXA)	Sleep apnea^a Cataplexy*	Morbid obesity	Apraxia, Aphasia	–	–
Psychiatric history	None	Autism	None	None	None	None	None	14%
Family history	Anxiety (F) hypo-thyroid (F)	Mild ASD (Brother)	Hemochrom-atosis (M)	Anxiety (M)	Depression, pancreatitis, Panic (M)	Anxiety (M), Nephro- pathy (F)	Depression (M)	–

Notes: ^aDiagnosed during regression evaluation. ^bDeceased. See Table 4 for autoimmune disorders.

Table 3 Medical and neurologic features and test results in seven case of DS and catatonia

Notes: ^aDiagnosed during regression evaluation. ^bReported in catatonia affecting ASD (Wachtel et al 2019).³⁴

Abbreviations: nd, not done; CVT, cerebral venous thrombosis; OSA, Obstructive Sleep Apnea; , positive symptom or out of range laboratory.

Table 4 Autoimmune diagnoses and testing in seven case of DS and catatonia

Notes: ^aDiagnosed during regression evaluation. ^bUnclear autoimmune etiology.

Abbreviation: , Autoimmune diagnoses and laboratory indicators.

Table 5 Catatonia treatments and results in seven case of DS and catatonia

Mechanism	Treatments	1. BK	2. MS	3. BC	4. PL	5. JT	6. CN	7. BI
GABA Agonists	lorazepam – effect of test dose 2 mg IV (1–5 Likert score)	Positive – 4	Positive −2	Positive - 4	Positive - 4	Positive −3	Positive −2	Positive −2
	lorazepam – oral Rx (% baseline achieved)	75% initially, Maintained on low dose	DC’d - parent concerns	50%	50%	100%	60% & then recurrence	70% Maintained after ECT
	ECT (% baseline achieved)	90% for 2 yrs,	90%	>90%	>95%	na	90%	90%
	Number ECT Courses	1 course	1 course plus maintenance ECT	3 courses	1 course	–	3 courses plus maintenance ECT	1 course plus maintenance ECT
Glutamate Antagonist	dextromethorphan/quinidine	Unclear. Short course 3 years after ECT	Maintained after ECT	Maintained after ECT	Maintained after ECT	–	With Lorazepam & ECT	Improved & maintained after ECT
	memantine	DC’d - efficacy	DC’d - efficacy	–	–	DC’d -irritability	–	–
Anti-inflammatory	minocycline	DC’d – lethargy	DC’d – efficacy	DC’d – efficacy	–	DC -possible liver risk	–	–
Multiple mechanisms	N-acetylcysteine (NAC)	Possibly improved	–	DC’d -efficacy	–	–	–	–
Medications prior to diagnosis that did not reduce symptoms		divalproex sodium, sertraline	aripiprazole, sertraline, fluoxetine	sertraline	none	none	SSRI	SSRIs x3, bupropion HCl, diazepam, lorazepam 0.5 mg

Note: Likert scale: 1=none, 2=some, 3= good, 4= very good, 5=excellent. Per Parent & Physician; See Figure 1 for CIS longitudinal course examples.

Figure 1 Longitudinal progress measured by parent reports using the Catatonia Impact Scale (CIS) and BFCRS. (A) Case 4. PL. From 7/31/15 to 2/10/19. (B) Case 2. CN. From 4/6/16 to 2/7/19.

Wachtel LE. Treatment of catatonia in autism spectrum disorders. Acta Psychiatr Scand. 2019;130(1):46–55. doi:10.1111/acps.12980

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