Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Maximino, Luciana Paula; Ducati, Luis Gustavo; Abramides, Dagma Venturini Marques; Corrêa, Camila de Castro; Garcia, Patrícia Fernandes; Fernandes, Adriano Yacubian

doi:10.1590/0004-282X20170171

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Article • Arq. Neuro-Psiquiatr. 75 (12) • Dec 2017 • https://doi.org/10.1590/0004-282X20170171 copy

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Craniossinostoses sindrômicas: habilidades neuropsicolinguísticas e análise por imagem do sistema nervoso central

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Objective:

To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities.

Methods:

Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests.

Results:

Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients.

Conclusion:

Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

Keywords:
acrocephalosyndactylia; craniofacial dysostosis; central nervous system; neuropsychology; language

Variable	Apert syndrome - 8 patients	Crouzon syndrome - 10 patients
Mean	23 years and 5 months	15 years and 2 months
Standard deviation	54.59 months	46.33 months
Minimum	14 years and 9 months	6 years and 4 months
Maximum	31 years and 3 months	20 years and 9 months

Language components	Expressive	Receptive
Phonology	Production of speech sounds	Hearing, sound discrimination and processing
Syntax	Utilization of grammatical structures of language	Understanding of grammatical structures of language
Semantics	Utilization of vocabulary, meaning and concept	Understanding of vocabulary, meaning and concept
Pragmatics	Functional utilization of language as communication means, coherent responses, maintenance of topic	Understanding of language

Instrument	Objective	Composition of instrument	Parameters
Behavioral observation of language¹⁸18. Hage SRV, Pereira TC, Zorzi JL. [Behavioral Observation Protocol: reference values for a quantitative analysis]. Rev CEFAC. 2012;14(4):677-90. Portuguese. https://doi.org/10.1590/S1516-18462012005000068 https://doi.org/10.1590/S1516-1846201200...	Receptive and expressive language	Spontaneous and semi-directed conversation	Observation of communication resources used by the individual Result: adequate or altered
Peabody picture vocabulary test²⁰20. Dunn LM, Padilla ER, Lugo DE, Dunn LM. Teste de vocabulário por imagens Peabody. Circle Pines: American Guidance Service, 1986.	Lexical development in the receptive domain	The areas included: people, actions, qualities, body parts, time, nature, places, objectives, animals, tools and instruments and mathematical terms	Result: upper high; lower high; upper medium; lower medium; upper low; lower low
School achievement test²¹21. Stein LM. Teste de desempenho escolar: manual para aplicação e interpretação. São Paulo: Casa do Psicólogo; 1994.	Reading, arithmetics and writing	Reading: decoding of 70 isolated words Writing: writing their own name and 34 words presented as dictation Arithmetics: resolution of 35 arithmetic operations, written and orally Performed only on literate individuals	Result: low, medium or high, according to the educational level presented
Token test²²22. De Renzi E, Faglioni P. Normative data and screening power of a shortened version of the Token Test. Cortex. 1978;14(1):41-9. https://doi.org/10.1016/S0010-9452(78)80006-9 https://doi.org/10.1016/S0010-9452(78)80...	Understanding ability at the receptive level	36 commands, gradually increasing the complexity of the test, involving 20 symbols, differentiated by shape, size and color	Gross score, which will be adjusted to the score corrected according to the educational level Result: upper medium, medium, normal, mild diffculty, moderate diffculty, severe diffculty and very severe diffculty

Patient	Gender	Years	Syndrome	PPVT		Token test		School achievement test
Patient	Gender	Years	Syndrome	Score	Classification	Score	Classification	Score	Classification
1	M	26y1m	AS	67	Lower low	27.56	Mild difficulty	87	Low
2	F	18y1m	AS	116	Upper medium	34.56	Upper medium	137	Superior
3	M	19y9m	AS	97	Medium	35.56	Medium	121	Low
4	F	25y	AS	113	Upper medium	31.6	Medium	112	Low
5	F	16y1m	AS	47	Lower low	28.32	Mild difficulty	110	Low
6	M	12y1m	AS	72	Upper low	30.54	Medium	85	Low
7	F	18y1m	AS	83	Upper low	30.76	Medium	113	Low
8	F	21y1m	AS	43	Lower low	17.76	Moderate difficulty	70	Low
9	M	16y5m	CS	54	Lower low	17.5	Moderate difficulty	35	Low
10	F	12y	CS	101	Medium	34.46	Upper medium	123	Medium
11	M	17y4m	CS	86	Lower medium	31.06	Medium	126	Medium
12	M	12y8m	CS	87	Lower medium	29.26	Medium	111	Low
13	M	5y3m	CS	58	Lower low	14.46	Severe difficulty	28	Low
14	M	15y3m	CS	106	Upper medium	35.13	Upper medium	95	Low
15	M	12y	CS	88	Medium	31.86	Medium	131	High
16	M	16y3m	CS	85	Lower medium	34.36	Upper medium	124	High
17	M	10y9m	CS	97	Medium	37.46	Upper medium	118	Medium
18	M	8y4m	CS	72	Upper low	28.76	Medium	71	Low

Patients	Syndrome	TEST	VIQ	PIQ	FIQ	Final classification
1	AS	WAIS	71	74	71	Borderline
2	AS	WISC-III	100	108	104	Average
3	AS	WISC-III	65	71	65	Intellectual disability
4	AS	WAIS	78	68	70	Borderline
5	AS	WISC-III	75	73	72	Borderline
6	AS	Terman-Merril	-	-	84	Average
7	AS	WISC-III	74	86	78	Borderline
8	AS	WISC-III	48	51	47	Intellectual disability
9	CS	WISC-III	48	49	46	Intellectual disability
10	CS	WISC-III	95	93	93	Average
11	CS	WISC-III	80	72	74	Borderline
12	CS	WISC-III	91	98	93	Average
13	CS	WISC-III	57	61	56	Intellectual disability
14	CS	WISC-III	92	95	93	Average
15	CS	WISC-III	101	100	101	Average
16	CS	WISC-III	101	97	98	Average
17	CS	WISC-III	112	90	102	Average
18	CS	WISC-III	72	96	82	Average

Patients	Neuroimaging findings
Patients	Ventriculomegaly	Corpus callosum	Septum pellucidum	Arachnoid cyst	Chiari I	Encephalomalacia
1	-	-	-	-	-	-
2	-	-	-	-	-	-
3	-	Hypoplasia	-	-	-	-
4	-	-	Cavum	+	-	-
5	+	Hypoplasia	-	-	-	-
6	-	-	-	-	-	-
7	-	Hypoplasia	Hypoplasia	-	-	-
8	-	-	Hypoplasia	-	-	-
9	-	Hypoplasia	-	-	+	-
10	-	-	-	-	-	+
11	-	-	-	+	-	-
12	-	-	-	-	-	-
13	-	-	-	-	-	-
14	-	-	-	-	-	+
15	-	-	-	-	-	+
16	-	-	-	-	-	-
17	-	-	-	-	-	-
18	+	-	-	-	-	-

Patients	Syndrome	QI	PPVT	Token test	School achievement test	Speech-Language diagnosis
1	AS	71	Lower low	Mild difficulty	Low	Learning disabilities
2	AS	104	Upper medium	Upper medium	Superior	Normal
3	AS	65	Medium	Medium	Low	Learning disabilities
4	AS	70	Upper medium	Medium	Low	Learning disabilities
5	AS	72	Lower low	Mild difficulty	Low	Learning disabilities
6	AS	84	Upper low	Medium	Low	Learning disabilities
7	AS	78	Upper low	Medium	Low	Learning disabilities
8	AS	47	Lower low	Moderate difficulty	Low	Language impairment
9	CS	46	Lower low	Moderate difficulty	Low	Language impairment
10	CS	93	Medium	Upper medium	Medium	Normal
11	CS	74	Lower medium	Medium	Medium	Normal
12	CS	93	Lower medium	Medium	Low	Learning disabilities
13	CS	56	Lower low	Severe difficulty	Low	Language impairment
14	CS	93	Upper medium	Upper medium	Low	Learning disabilities
15	CS	101	Medium	Medium	High	Normal
16	CS	98	Lower medium	Upper medium	High	Normal
17	CS	102	Medium	Upper medium	Medium	Normal
18	CS	82	Upper low	Medium	Low	Learning disabilities

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[1] Correspondence: Luciana Paula Maximino; Al. Octávio Pinheiro Brisola, 9 / 75; 17012-901 Botucatu SP, Brasil; E-mail: lumaximino@uol.com.br