Table 1

Clinical features of patients with FOXG1 mutations

	Patient 1 (1091)	Score	Patient 2 (RTT00967)	Score	Patient 3 (RTT01158)	Score	Patient 4 (60718368)	Score	Patient 5 Ariani et al3	Score	Patient 6 Ariani et al3	Score
Age/sex	13 y 2 m/female		8 y/female		3 y/female		3 y 2 m/female		22 y/female		7 y/female
Inheritance	Parents not available (NA)		De novo		Parents' DNA requested		De novo		De novo		De novo
Mutation	c.681C>G; p.N227K		c.643T>C; p.F215L		c.551_552insC; p.S185fsX454		c.624C>G; p.Y208X		c.765G>A; p.W255X		c.969delC; p.S323fsX325
OFC at birth	NA		34 cm 50–75th cnt		32.5 cm 3–10th cnt		33.5 cm 25–50th cnt		34 cm 50th cnt		34 cm 50th cnt
Weight at birth	3900 g 90th cnt		3300 g 50–75th cnt		2800 g 10th cnt		3150 g 50th cnt		3150 g 25–50th cnt		3350 g 50th cnt
Length at birth	NA		49 cm 50th cnt		48 cm 50th cnt		50 cm 50th cnt		49 cm 50th cnt		50 cm 50th cnt
Perinatal signs	NA		Inconsolable crying		Hypotonia, psychomotor retardation		Sleepiness, cries only if hungry		Inconsolable crying		Inconsolable crying
Age of regression	6 months	2	6 months	2	3 months	2	3 months	2	3 months	2	3 months	2
Present OFC	46 cm −6 SD	2	48 cm −2.24 SD	2	43 cm −5 SD	2	42 cm −5 SD	2	49 cm −4 SD	2	47 cm −3.7 SD	2
Present weight	NA		NA		13.4 kg 3rd cnt	1	10 kg <5th cnt	2	38 kg <5th cntBMI 19.1	2	18.5 kg <5th cntBMI 15.3	2
Present height	NA		NA		97 cm 75th cnt	0	87 cm <3rd cnt	2	141 cm <<5th cnt	2	110 cm <5th cnt	2
Hand stereotypy	NA		Intermittent: hand to mouth, washing	1	Intermittent	1	Constant: hand to mouth	2	Constant: clapping, hand to mouth	1	Constant: clapping, hand to mouth	2
Age of stereotypy onset	NA		NA		NA		12 months		NA		12 months
Jerky movements	NA		Yes		Yes		Occasional		Yes		Yes
Rocking	Yes		NA		Absent		No		Yes		No
Voluntary hand use	NA		Poor	1	Absent	2	Poor	1	Absent	2	Absent	2
Sitting	NA		15 months	0	Not acquired	2	No sitting alone	2	Not acquired	2	10 months	1
Walking	Not acquired	2	Not acquired	2	Not acquired	2	Not acquired	2	Not acquired	2	Not acquired	2
Age at walk	Never		Never	2	Never	2	Never	2	Never	2	Never	2
Speech	Not acquired	2	Not acquired	2	Not acquired	2	Not acquired	2	Not acquired	2	Not acquired	2
Age of increasing words	Never	2	Never	2	Never	2	Never	2	Never	2	Never	2
Level of speech	Absent	2	Absent	2	Absent	2	Absent	2	Absent	2	Absent	2
Level of phrases	Absent	2	Absent	2	Absent	2	Absent	2	Absent	2	Absent	2
Epilepsy	Not controlled by therapy	2	No epilepsy	0	Recurrent status epilepticus controlled by treatment	1	No epilepsy (3 years)	0	Not controlled by therapy	2	Controlled by therapy	1
Seizure onset	NA		Never		17 months		Never (3 years)		14 years		30 months
Sleep disturbances	NA		Yes		Yes, severe		No		Yes		Yes
Eye contact	NA		Poor		Poor		Good at 12 months		Poor		Poor
Gastro-intestinal disturbances	NA		Moderate constipation	1	Severe, reflux and constipation	2	Constipation	1	Constipation	1	Constipation	1
Breathing disorders	NA		No	0	No	0	Apnoeas	1	Sporadic hyperventilation episodes	1	Prolonged inspirations	1
Cold extremities	NA		Yes	1	No	0	No	0	Mild	1	Mild	1
Tongue protruding movements	NA		Yes		No		Yes		Yes		Yes
Bruxism	Yes		No		Yes		Yes, teeth chattering		Yes		Teeth beating/teeth-chattering
Sialorrhea	NA		No		Yes		Yes		Yes		Yes
Pain threshold	NA		Normal		Normal		High				High
Joint rigidity	NA		No		No		No		Yes, large and small joints		Small joints
Strabismus	NA		Yes		Yes		Yes		Yes		Yes
Sphincter control	NA		No	2	Absent	2	Absent	2	Absent	2	Absent	2
Genu valgu	NA		NA		No	0	Absent		Severe	2	Absent	0
Pes planus	NA		Absent	0	NA		Mild	1	NA		NA
Scoliosis	Severe	2	No	0	No	0	Absent	0	Severe	2	Absent	0
Kyphosis	NA		No	0	Yes	1	Severe	2	Severe	2	Absent	0
Corpus callosum thinning at brain MRI	NA		No		Yes		Yes		Yes, mild		Yes, mild
Total score		–		–		28		32		38		31