Catatonia in Down syndrome; a treatable cause of regression

Figures & data

Table 1 Demographic features in six cases with Down syndrome and catatonia

Demographic	Case 1 (NK)	Case 2 (CU)	Case 3 (SH)	Case 4 (BN)	Published case*	Published case*
Sex	F	F	M	M	F	F
Age at diagnosis, years	15	16	16	18	16	14
Onset, prior todiagnosis	>6 months	2.5 years	2.5 years	7 months	5 months	Subacute
IQ	Mild ID	Moderate ID	Moderate ID	Moderate ID	Borderline ID	Severe ID
BFCRS scores
At diagnosis	13	6	15	18
Most recent	0	5**	8	2
Final psychiatric diagnosis	CatatoniaNOS, mood disorder	CatatoniaNOS, mood disorder	Catatonia NOS, bipolar NOS	Catatonia NOS, possible mood disorder	Catatonia NOS, mood disorder	Catatonia NOS, pervasive developmental disorder NOS, mood disorder
Family historyof mood disorder	Depression	Depression, bipolar	No	No	Bipolar	MDD

Notes:

* Data from Jap and Ghaziuddin.²²

** Score has slowly increased since the cessation of ECT 7 months earlier; however, ECT has not been resumed since symptoms are relatively unimpairing at this time.

Abbreviations: BFCRS, Bush-Francis Catatonia Rating Scale;¹³ ECT, electroconvulsive therapy; ID, intellectual disability; IQ, intelligence quotient; MDD, major depressive disorder; NOS, not otherwise specified.

Table 2 Presenting symptoms in six cases with Down syndrome and catatonia

Symptom	Case 1 (NK)	Case 2 (CU)	Case 3 (SH)	Case 4 (BN)	Published case*	Published case*
Motor activity	Reduced	Reduced	Mixed	Reduced	Reduced	Reduced
Mood	Labile	Labile	Silly, irritable	Perplexed	Labile	Irritable
Anxiety/depression	±	No	No	±	Yes	No
Psychosis	No	Unclear	No	No	Yes	No
Aggression	No	No	Yes	No	No	SIB
Cognition	Impaired	Impaired	Impaired	Impaired	Impaired	Impaired
Stereotyped behaviors	Yes	Yes	Yes	Yes	Yes	Yes
Unusual movements	Yes	Yes	Yes	Yes	Yes	Yes
Decline in ADL	Yes	Yes	Yes	Yes	Yes	Yes

Notes:

* Data from Jap and Ghaziuddin.²² ±, possible.

Abbreviations: ADL, activities of daily living; SIB, self-injurious behaviors.

Table 3 Medical findings in six cases with Down syndrome and catatonia

Investigations	Case 1 (NK)	Case 2 (CU)	Case 3 (SH)	Case 4 (BN)	Published case*	Published case*
EEG	Negative	Negative	Negative	Negative	Negative	Negative
MRI brain scan	Negative	Negative	Negative	Negative	Negative (benign cyst)	Negative
Infection	No	UTI	No	No	No	No
Metabolic	No	No	No	No	No	No
Autoimmune	Mycoplasma and EBV Ab	Possible Hashimoto’s encephalopathy at age 13	Hypo-thyroid	Alopecia areata, Raynaud’s**, DNase Ab, Anti-streptolysin O Ab	–
Other	AV canal repair	–	Mild right side cerebral palsy, constipation	Mild obstructive sleep apnea	–	Obstructive sleep apnea, pervasive developmental disorder

Notes:

* Data from Jap and Ghaziuddin.²²

** Mild symptoms, father also affected.

Abbreviations: Ab, antibodies; AV, atrioventricular; EBV, Epstein–Barr virus; EEG, electroencephalography; MRI, magnetic resonance imaging; UTI, urinary-tract infection.

Table 4 Treatment response in six cases with Down syndrome and catatonia

Treatment	Case 1 (NK)	Case 2 (CU)	Case 3 (SH)	Case 4 (BN)	Publishedcase*	Published case*
Antidepressant	Citalopram	No	Fluoxetine	Citalopram	Yes	Yes
response	No change	–	Worsening	No change	Equivocal	Equivocal
Antipsychotic	No	No	Yes	No	Yes	No
response	–	–	Worsening	–	Worsening	–
Antiepileptic or MS**	Ethosuximide	No	Lithium	Yes	Yes	No
response	No change	–	No change	No change	Unknown	–
Stimulant	Yes	No	No	No	No	Unknown
response	No change	–	–	–	–	–
Lorazepam	Yes	Yes	Yes	Yes	Yes	Yes
Maximum dose/day (mg)	12.0	22.0	11.0	20.0	3.0	1.5
response	Partial	Partial	No	Improved	Partial	Improved
ECT received	Yes	Yes	Yes	Yes	Yes	No
response	Remissiona	Remission	Remissiona	Improvinga	Remission	–
Overall functioning (% of baseline recovery)	100	100	80–90	~90	100	Partial
Able to attend school or work	Yes	Yes	Yes	Ongoing therapy	Yes	Yes
Social behavior improved	Yes	Yes	Yes	Yes	Yes	Yes
Abnormal movements persist	No; but recur when ECT stopped	No	No; but recur when ECT stopped	Yes	No	Mild/gagging
Time since diagnosis	3 years	3 years	3 years	19 months	5 years	5 years
Follow-up	Ongoing	Ongoing	Ongoing	Ongoing	4 years	1 year then lost to follow-up

Notes:

* Data from Jap and Ghaziuddin;²²

** antiepileptic or mood stabilizer;

a ongoing ECT to maintain remission.

Abbreviations: ECT, electroconvulsive therapy; MS, mood stabilizer.

JapSNGhaziuddinNCatatonia among adolescents with Down syndrome: a review and 2 case reportsJ ECT201127433433721673586

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BushGFinkMPetridesGDowlingACatatonia. I. Rating scale and standardized examinationActa Psychiatr Scand19969321291368686483

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