J Neurol Res

Journal of Neurology Research, ISSN 1923-2845 print, 1923-2853 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Neurol Res and Elmer Press Inc

Journal website http://www.neurores.org

Original Article

Volume 3, Number 3-4, August 2013, pages 122-129

Autistic Symptoms in Late Diagnosed Phenylketonuric Children in Upper Egypt

**Table 1.** Demographic Data of Study Group
Variable	Frequency	Percent
Sex
Male	22	68.80%
Female	10	31.20%
Total	32	100%
Age
Range	3 - 8 years
Mean ± SD	5.46 y ± 1.44 y
Consanguinity	28/32	87.50%
Positive family history of PKU	21/32	65.62%
Classification according to Phe level at diagnosis
Mild PKU (Plasma Phe 360 - 600 µmol/L)	1	3.10%
Moderate PKU (Plasma Phe > 600 - 1,200 µmol/L)	11	34.40%
Classic PKU (Plasma Phe > 1,200 µmol/L)	20	62.50%
Total	32	100%

Table 1. Demographic Data of Study Group

Variable

Frequency

Percent

Sex

Male

68.80%

Female

31.20%

Total

100%

Age

Range

3 - 8 years

Mean ± SD

5.46 y ± 1.44 y

Consanguinity

28/32

87.50%

Positive family history of PKU

21/32

65.62%

Classification according to Phe level at diagnosis

Mild PKU (Plasma Phe 360 - 600 µmol/L)

3.10%

Moderate PKU (Plasma Phe > 600 - 1,200 µmol/L)

34.40%

Classic PKU (Plasma Phe > 1,200 µmol/L)

62.50%

Total

100%

**Table 2.** Clinical Data of Study Group
Variable	Frequency	Percent
Fair complexion	27	(84.37%)
Musty urine odor	23	(71.87%)
Epileptic seizures	7	(21.87%)
Microcephaly	29	(90.62%)
Skin lesions	14	(43.75%)

Table 2. Clinical Data of Study Group

Variable

Frequency

Percent

Fair complexion

(84.37%)

Musty urine odor

(71.87%)

Epileptic seizures

(21.87%)

Microcephaly

(90.62%)

Skin lesions

(43.75%)

**Table 3.** Neuro- Radiological Complication
Variable	Frequency	Percent
*Hyperreflexia	3	(9.4%)
*MRI abnormality	28	(87.5%)
*Tremor	4	(12.5%)

Table 3. Neuro- Radiological Complication

Variable

Frequency

Percent

*Hyperreflexia

(9.4%)

*MRI abnormality

(87.5%)

*Tremor

(12.5%)

**Table 4.** Details for All Cases in the Study
Case	Sex	Age (Y)	FSIQ	Mean Phe Level µmol/L	Type of Pku	Cars Scores	Neuro-Radiological Complications
1	M	3.5	70	517	Mild	18	MRI findings
2	M	4	42	1,651	Classic	45	Epilepsy, MRI findings
3	F	5	43	1,304	Classic	36	MRI findings
4	M	4.5	57	1,022	Moderate	20	Epilepsy, Tremor, MRI findings
5	M	6	32	1,404	Classic	21	-
6	M	7	36	1,203	Classic	15	Epilepsy, MRI findings
7	F	3.5	61	1,009	Moderate	24	Tremor, MRI findings
8	F	8	46	1,478	Classic	21	MRI findings
9	M	6.5	48	1,674	Classic	30	MRI findings
10	F	3.5	62	892	Moderate	30	MRI findings
11	M	8	45	1,702	Classic	32	MRI findings
12	F	5	40	1,652	Classic	15	Hyperreflexia, MRI findings
13	M	5	34	1,508	Classic	16	-
14	M	4	58	1,773	Classic	15	Epilepsy, MRI findings
15	M	5	64	738	Moderate	21	MRI findings
16	M	8	51	907	Moderate	39	Epilepsy
17	M	3	64	911	Moderate	15	MRI findings
18	M	4	62	1,033	Moderate	27	MRI findings
19	F	4.5	41	1,266	Classic	33	Hyperreflexia, MRI findings
20	M	5	58	1,004	Moderate	35	MRI findings
21	F	6	45	1,515	Classic	15	MRI findings
22	M	6	39	1,300	Classic	15	Tremor, MRI findings
23	M	5.5	46	1,722	Classic	18	MRI findings
24	M	7.5	47	1,611	Classic	18	MRI findings
25	M	6	59	1,009	Moderate	19	MRI findings
26	M	7	43	1,453	Classic	19	MRI findings
27	F	7	48	1,702	Classic	16	Tremor, MRI findings
28	M	5	72	942	Moderate	15	MRI findings
29	M	5	67	1,611	Classic	18	MRI findings
30	F	6	54	1,569	Classic	16	Epilepsy, MRI findings
31	M	4	55	1,619	Classic	19	Epilepsy, hyperreflexia
32	F	7	65	760	Moderate	26	MRI findings

Table 4. Details for All Cases in the Study

Case

Sex

Age (Y)

FSIQ

Mean Phe Level µmol/L

Type of Pku

Cars Scores

Neuro-Radiological Complications

3.5

517

Mild

MRI findings

1,651

Classic

Epilepsy, MRI findings

1,304

Classic

MRI findings

4.5

1,022

Moderate

Epilepsy, Tremor, MRI findings

1,404

Classic

1,203

Classic

Epilepsy, MRI findings

3.5

1,009

Moderate

Tremor, MRI findings

1,478

Classic

MRI findings

6.5

1,674

Classic

MRI findings

3.5

892

Moderate

MRI findings

1,702

Classic

MRI findings

1,652

Classic

Hyperreflexia, MRI findings

1,508

Classic

1,773

Classic

Epilepsy, MRI findings

738

Moderate

MRI findings

907

Moderate

Epilepsy

911

Moderate

MRI findings

1,033

Moderate

MRI findings

4.5

1,266

Classic

Hyperreflexia, MRI findings

1,004

Moderate

MRI findings

1,515

Classic

MRI findings

1,300

Classic

Tremor, MRI findings

5.5

1,722

Classic

MRI findings

7.5

1,611

Classic

MRI findings

1,009

Moderate

MRI findings

1,453

Classic

MRI findings

1,702

Classic

Tremor, MRI findings

942

Moderate

MRI findings

1,611

Classic

MRI findings

1,569

Classic

Epilepsy, MRI findings

1,619

Classic

Epilepsy, hyperreflexia

760

Moderate

MRI findings

**Table 5.** IQ Scores and Autistic Scores Among PKU Cases
Variable	Frequency	Percent
IQ scores
Range	32 - 72
Mean ± SD	51.71 ± 10.94
-mild and borderline	16	50.00%
-moderate	14	43.75%
-severe	2	6.25%
Total	32	100%
CARS scores
> 36.5 (severely autistic)	2	(6.25%)
≥ 30 - 36.5 (mild/moderate Autistic)	6	(18.75%)
< 30 (not autistic)	24	(75%)
Total	32	100%

Table 5. IQ Scores and Autistic Scores Among PKU Cases

Variable

Frequency

Percent

IQ scores

Range

32 - 72

Mean ± SD

51.71 ± 10.94

-mild and borderline

50.00%

-moderate

43.75%

-severe

6.25%

Total

100%

CARS scores

> 36.5 (severely autistic)

(6.25%)

≥ 30 - 36.5 (mild/moderate Autistic)

(18.75%)

< 30 (not autistic)

(75%)

Total

100%